Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.1495959T>ACA2657646865TPOc.2007-30T>A (n.2007-30T>A)
c.1488-30T>A (n.1488-30T>A)
c.1836-30T>A (n.1836-30T>A)
c.1794-30T>A (n.1794-30T>A)
c.431-30T>A
n.424+1920T>A
c.429-30T>A (n.429-30T>A)
n.677+1920T>A
n.2008-30T>A
c.2043-30T>A (n.2043-30T>A)
c.1872-30T>A (n.1872-30T>A)
c.1524-30T>A (n.1524-30T>A)
gnomAD v4
2g.1495959T>CCA2657646866TPOc.2007-30T>C (n.2007-30T>C)
c.1488-30T>C (n.1488-30T>C)
c.1836-30T>C (n.1836-30T>C)
c.1794-30T>C (n.1794-30T>C)
c.431-30T>C
n.424+1920T>C
c.429-30T>C (n.429-30T>C)
n.677+1920T>C
n.2008-30T>C
c.2043-30T>C (n.2043-30T>C)
c.1872-30T>C (n.1872-30T>C)
c.1524-30T>C (n.1524-30T>C)
gnomAD v4
2g.1495959T>GCA2657646867TPOc.2007-30T>G (n.2007-30T>G)
c.1488-30T>G (n.1488-30T>G)
c.1836-30T>G (n.1836-30T>G)
c.1794-30T>G (n.1794-30T>G)
c.431-30T>G
n.424+1920T>G
c.429-30T>G (n.429-30T>G)
n.677+1920T>G
n.2008-30T>G
c.2043-30T>G (n.2043-30T>G)
c.1872-30T>G (n.1872-30T>G)
c.1524-30T>G (n.1524-30T>G)
gnomAD v4
2g.1495960G>ACA1026820993TPOc.2007-29G>A (n.2007-29G>A)
c.1488-29G>A (n.1488-29G>A)
c.1836-29G>A (n.1836-29G>A)
c.1794-29G>A (n.1794-29G>A)
c.431-29G>A
n.424+1921G>A
c.429-29G>A (n.429-29G>A)
n.677+1921G>A
n.2008-29G>A
c.2043-29G>A (n.2043-29G>A)
c.1872-29G>A (n.1872-29G>A)
c.1524-29G>A (n.1524-29G>A)
dbSNP gnomAD v3 gnomAD v4
2g.1495960G=CA1233577832TPOc.2007-29G= (n.2007-29G=)
c.1488-29G= (n.1488-29G=)
c.1836-29G= (n.1836-29G=)
c.1794-29G= (n.1794-29G=)
c.431-29G=
n.424+1921G=
c.429-29G= (n.429-29G=)
n.677+1921G=
n.2008-29G=
c.2043-29G= (n.2043-29G=)
c.1872-29G= (n.1872-29G=)
c.1524-29G= (n.1524-29G=)
2g.1495960G>TCA2657646868TPOc.2007-29G>T (n.2007-29G>T)
c.1488-29G>T (n.1488-29G>T)
c.1836-29G>T (n.1836-29G>T)
c.1794-29G>T (n.1794-29G>T)
c.431-29G>T
n.424+1921G>T
c.429-29G>T (n.429-29G>T)
n.677+1921G>T
n.2008-29G>T
c.2043-29G>T (n.2043-29G>T)
c.1872-29G>T (n.1872-29G>T)
c.1524-29G>T (n.1524-29G>T)
gnomAD v4
2g.1495962C=CA1233577833TPOc.2007-27C= (n.2007-27C=)
c.1488-27C= (n.1488-27C=)
c.1836-27C= (n.1836-27C=)
c.1794-27C= (n.1794-27C=)
c.431-27C=
n.424+1923C=
c.429-27C= (n.429-27C=)
n.677+1923C=
n.2008-27C=
c.2043-27C= (n.2043-27C=)
c.1872-27C= (n.1872-27C=)
c.1524-27C= (n.1524-27C=)
2g.1495962C>TCA1511927TPOc.2007-27C>T (n.2007-27C>T)
c.1488-27C>T (n.1488-27C>T)
c.1836-27C>T (n.1836-27C>T)
c.1794-27C>T (n.1794-27C>T)
c.431-27C>T
n.424+1923C>T
c.429-27C>T (n.429-27C>T)
n.677+1923C>T
n.2008-27C>T
c.2043-27C>T (n.2043-27C>T)
c.1872-27C>T (n.1872-27C>T)
c.1524-27C>T (n.1524-27C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1495963C>TCA2657646869TPOc.2007-26C>T (n.2007-26C>T)
c.1488-26C>T (n.1488-26C>T)
c.1836-26C>T (n.1836-26C>T)
c.1794-26C>T (n.1794-26C>T)
c.431-26C>T
n.424+1924C>T
c.429-26C>T (n.429-26C>T)
n.677+1924C>T
n.2008-26C>T
c.2043-26C>T (n.2043-26C>T)
c.1872-26C>T (n.1872-26C>T)
c.1524-26C>T (n.1524-26C>T)
gnomAD v4
2g.1495964T>CCA1511928TPOc.2007-25T>C (n.2007-25T>C)
c.1488-25T>C (n.1488-25T>C)
c.1836-25T>C (n.1836-25T>C)
c.1794-25T>C (n.1794-25T>C)
c.431-25T>C
n.424+1925T>C
c.429-25T>C (n.429-25T>C)
n.677+1925T>C
n.2008-25T>C
c.2043-25T>C (n.2043-25T>C)
c.1872-25T>C (n.1872-25T>C)
c.1524-25T>C (n.1524-25T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1495964T=CA1233577834TPOc.2007-25T= (n.2007-25T=)
c.1488-25T= (n.1488-25T=)
c.1836-25T= (n.1836-25T=)
c.1794-25T= (n.1794-25T=)
c.431-25T=
n.424+1925T=
c.429-25T= (n.429-25T=)
n.677+1925T=
n.2008-25T=
c.2043-25T= (n.2043-25T=)
c.1872-25T= (n.1872-25T=)
c.1524-25T= (n.1524-25T=)
2g.1495965T>ACA2657646870TPOc.2007-24T>A (n.2007-24T>A)
c.1488-24T>A (n.1488-24T>A)
c.1836-24T>A (n.1836-24T>A)
c.1794-24T>A (n.1794-24T>A)
c.431-24T>A
n.424+1926T>A
c.429-24T>A (n.429-24T>A)
n.677+1926T>A
n.2008-24T>A
c.2043-24T>A (n.2043-24T>A)
c.1872-24T>A (n.1872-24T>A)
c.1524-24T>A (n.1524-24T>A)
gnomAD v4
2g.1495965_1495969delinsTACTCCA1233577835TPOc.2007-24_2007-20delinsTACTC (n.2007-24_2007-20delinsTACTC)
c.1488-24_1488-20delinsTACTC (n.1488-24_1488-20delinsTACTC)
c.1836-24_1836-20delinsTACTC (n.1836-24_1836-20delinsTACTC)
c.1794-24_1794-20delinsTACTC (n.1794-24_1794-20delinsTACTC)
c.431-24_431-20delinsTACTC
n.424+1926_424+1930delinsTACTC
c.429-24_429-20delinsTACTC (n.429-24_429-20delinsTACTC)
n.677+1926_677+1930delinsTACTC
n.2008-24_2008-20delinsTACTC
c.2043-24_2043-20delinsTACTC (n.2043-24_2043-20delinsTACTC)
c.1872-24_1872-20delinsTACTC (n.1872-24_1872-20delinsTACTC)
c.1524-24_1524-20delinsTACTC (n.1524-24_1524-20delinsTACTC)
2g.1495969_1495972delCA758649097TPOc.2007-20_2007-17del (n.2007-20_2007-17del)
c.1488-20_1488-17del (n.1488-20_1488-17del)
c.1836-20_1836-17del (n.1836-20_1836-17del)
c.1794-20_1794-17del (n.1794-20_1794-17del)
c.431-20_431-17del
n.424+1930_424+1933del
c.429-20_429-17del (n.429-20_429-17del)
n.677+1930_677+1933del
n.2008-20_2008-17del
c.2043-20_2043-17del (n.2043-20_2043-17del)
c.1872-20_1872-17del (n.1872-20_1872-17del)
c.1524-20_1524-17del (n.1524-20_1524-17del)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.1495967C>ACA2748608152TPOc.2007-22C>A (n.2007-22C>A)
c.1488-22C>A (n.1488-22C>A)
c.1836-22C>A (n.1836-22C>A)
c.1794-22C>A (n.1794-22C>A)
c.431-22C>A
n.424+1928C>A
c.429-22C>A (n.429-22C>A)
n.677+1928C>A
n.2008-22C>A
c.2043-22C>A (n.2043-22C>A)
c.1872-22C>A (n.1872-22C>A)
c.1524-22C>A (n.1524-22C>A)
2g.1495967C=CA1233577836TPOc.2007-22C= (n.2007-22C=)
c.1488-22C= (n.1488-22C=)
c.1836-22C= (n.1836-22C=)
c.1794-22C= (n.1794-22C=)
c.431-22C=
n.424+1928C=
c.429-22C= (n.429-22C=)
n.677+1928C=
n.2008-22C=
c.2043-22C= (n.2043-22C=)
c.1872-22C= (n.1872-22C=)
c.1524-22C= (n.1524-22C=)
2g.1495967C>TCA1233577837TPOc.2007-22C>T (n.2007-22C>T)
c.1488-22C>T (n.1488-22C>T)
c.1836-22C>T (n.1836-22C>T)
c.1794-22C>T (n.1794-22C>T)
c.431-22C>T
n.424+1928C>T
c.429-22C>T (n.429-22C>T)
n.677+1928C>T
n.2008-22C>T
c.2043-22C>T (n.2043-22C>T)
c.1872-22C>T (n.1872-22C>T)
c.1524-22C>T (n.1524-22C>T)
dbSNP
2g.1495968T>ACA2748608153TPOc.2007-21T>A (n.2007-21T>A)
c.1488-21T>A (n.1488-21T>A)
c.1836-21T>A (n.1836-21T>A)
c.1794-21T>A (n.1794-21T>A)
c.431-21T>A
n.424+1929T>A
c.429-21T>A (n.429-21T>A)
n.677+1929T>A
n.2008-21T>A
c.2043-21T>A (n.2043-21T>A)
c.1872-21T>A (n.1872-21T>A)
c.1524-21T>A (n.1524-21T>A)
2g.1495969C>ACA2657646871TPOc.2007-20C>A (n.2007-20C>A)
c.1488-20C>A (n.1488-20C>A)
c.1836-20C>A (n.1836-20C>A)
c.1794-20C>A (n.1794-20C>A)
c.431-20C>A
n.424+1930C>A
c.429-20C>A (n.429-20C>A)
n.677+1930C>A
n.2008-20C>A
c.2043-20C>A (n.2043-20C>A)
c.1872-20C>A (n.1872-20C>A)
c.1524-20C>A (n.1524-20C>A)
gnomAD v4
2g.1495969C>TCA2657646872TPOc.2007-20C>T (n.2007-20C>T)
c.1488-20C>T (n.1488-20C>T)
c.1836-20C>T (n.1836-20C>T)
c.1794-20C>T (n.1794-20C>T)
c.431-20C>T
n.424+1930C>T
c.429-20C>T (n.429-20C>T)
n.677+1930C>T
n.2008-20C>T
c.2043-20C>T (n.2043-20C>T)
c.1872-20C>T (n.1872-20C>T)
c.1524-20C>T (n.1524-20C>T)
gnomAD v4
2g.1495970A>CCA2748608154TPOc.2007-19A>C (n.2007-19A>C)
c.1488-19A>C (n.1488-19A>C)
c.1836-19A>C (n.1836-19A>C)
c.1794-19A>C (n.1794-19A>C)
c.431-19A>C
n.424+1931A>C
c.429-19A>C (n.429-19A>C)
n.677+1931A>C
n.2008-19A>C
c.2043-19A>C (n.2043-19A>C)
c.1872-19A>C (n.1872-19A>C)
c.1524-19A>C (n.1524-19A>C)
2g.1495971C>ACA1511929TPOc.2007-18C>A (n.2007-18C>A)
c.1488-18C>A (n.1488-18C>A)
c.1836-18C>A (n.1836-18C>A)
c.1794-18C>A (n.1794-18C>A)
c.431-18C>A
n.424+1932C>A
c.429-18C>A (n.429-18C>A)
n.677+1932C>A
n.2008-18C>A
c.2043-18C>A (n.2043-18C>A)
c.1872-18C>A (n.1872-18C>A)
c.1524-18C>A (n.1524-18C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1495971C=CA1233577838TPOc.2007-18C= (n.2007-18C=)
c.1488-18C= (n.1488-18C=)
c.1836-18C= (n.1836-18C=)
c.1794-18C= (n.1794-18C=)
c.431-18C=
n.424+1932C=
c.429-18C= (n.429-18C=)
n.677+1932C=
n.2008-18C=
c.2043-18C= (n.2043-18C=)
c.1872-18C= (n.1872-18C=)
c.1524-18C= (n.1524-18C=)
2g.1495971C>TCA530451027TPOc.2007-18C>T (n.2007-18C>T)
c.1488-18C>T (n.1488-18C>T)
c.1836-18C>T (n.1836-18C>T)
c.1794-18C>T (n.1794-18C>T)
c.431-18C>T
n.424+1932C>T
c.429-18C>T (n.429-18C>T)
n.677+1932C>T
n.2008-18C>T
c.2043-18C>T (n.2043-18C>T)
c.1872-18C>T (n.1872-18C>T)
c.1524-18C>T (n.1524-18C>T)
dbSNP gnomAD v2 gnomAD v4
2g.1495972T>CCA1511930TPOc.2007-17T>C (n.2007-17T>C)
c.1488-17T>C (n.1488-17T>C)
c.1836-17T>C (n.1836-17T>C)
c.1794-17T>C (n.1794-17T>C)
c.431-17T>C
n.424+1933T>C
c.429-17T>C (n.429-17T>C)
n.677+1933T>C
n.2008-17T>C
c.2043-17T>C (n.2043-17T>C)
c.1872-17T>C (n.1872-17T>C)
c.1524-17T>C (n.1524-17T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1495972T=CA1233577839TPOc.2007-17T= (n.2007-17T=)
c.1488-17T= (n.1488-17T=)
c.1836-17T= (n.1836-17T=)
c.1794-17T= (n.1794-17T=)
c.431-17T=
n.424+1933T=
c.429-17T= (n.429-17T=)
n.677+1933T=
n.2008-17T=
c.2043-17T= (n.2043-17T=)
c.1872-17T= (n.1872-17T=)
c.1524-17T= (n.1524-17T=)
2g.1495973G>ACA41426784TPOc.2007-16G>A (n.2007-16G>A)
c.1488-16G>A (n.1488-16G>A)
c.1836-16G>A (n.1836-16G>A)
c.1794-16G>A (n.1794-16G>A)
c.431-16G>A
n.424+1934G>A
c.429-16G>A (n.429-16G>A)
n.677+1934G>A
n.2008-16G>A
c.2043-16G>A (n.2043-16G>A)
c.1872-16G>A (n.1872-16G>A)
c.1524-16G>A (n.1524-16G>A)
dbSNP gnomAD v3 gnomAD v4
2g.1495973G=CA1233577840TPOc.2007-16G= (n.2007-16G=)
c.1488-16G= (n.1488-16G=)
c.1836-16G= (n.1836-16G=)
c.1794-16G= (n.1794-16G=)
c.431-16G=
n.424+1934G=
c.429-16G= (n.429-16G=)
n.677+1934G=
n.2008-16G=
c.2043-16G= (n.2043-16G=)
c.1872-16G= (n.1872-16G=)
c.1524-16G= (n.1524-16G=)
2g.1495975C>GCA2657646873TPOc.2007-14C>G (n.2007-14C>G)
c.1488-14C>G (n.1488-14C>G)
c.1836-14C>G (n.1836-14C>G)
c.1794-14C>G (n.1794-14C>G)
c.431-14C>G
n.424+1936C>G
c.429-14C>G (n.429-14C>G)
n.677+1936C>G
n.2008-14C>G
c.2043-14C>G (n.2043-14C>G)
c.1872-14C>G (n.1872-14C>G)
c.1524-14C>G (n.1524-14C>G)
gnomAD v4
2g.1495975C>TCA2697547819TPOc.2007-14C>T (n.2007-14C>T)
c.1488-14C>T (n.1488-14C>T)
c.1836-14C>T (n.1836-14C>T)
c.1794-14C>T (n.1794-14C>T)
c.431-14C>T
n.424+1936C>T
c.429-14C>T (n.429-14C>T)
n.677+1936C>T
n.2008-14C>T
c.2043-14C>T (n.2043-14C>T)
c.1872-14C>T (n.1872-14C>T)
c.1524-14C>T (n.1524-14C>T)
ClinVar
2g.1495977C>ACA530451028TPOc.2007-12C>A (n.2007-12C>A)
c.1488-12C>A (n.1488-12C>A)
c.1836-12C>A (n.1836-12C>A)
c.1794-12C>A (n.1794-12C>A)
c.431-12C>A
n.424+1938C>A
c.429-12C>A (n.429-12C>A)
n.677+1938C>A
n.2008-12C>A
c.2043-12C>A (n.2043-12C>A)
c.1872-12C>A (n.1872-12C>A)
c.1524-12C>A (n.1524-12C>A)
gnomAD v2 gnomAD v4
2g.1495977C=CA1233577842TPOc.2007-12C= (n.2007-12C=)
c.1488-12C= (n.1488-12C=)
c.1836-12C= (n.1836-12C=)
c.1794-12C= (n.1794-12C=)
c.431-12C=
n.424+1938C=
c.429-12C= (n.429-12C=)
n.677+1938C=
n.2008-12C=
c.2043-12C= (n.2043-12C=)
c.1872-12C= (n.1872-12C=)
c.1524-12C= (n.1524-12C=)
2g.1495977C>TCA1511932TPOc.2007-12C>T (n.2007-12C>T)
c.1488-12C>T (n.1488-12C>T)
c.1836-12C>T (n.1836-12C>T)
c.1794-12C>T (n.1794-12C>T)
c.431-12C>T
n.424+1938C>T
c.429-12C>T (n.429-12C>T)
n.677+1938C>T
n.2008-12C>T
c.2043-12C>T (n.2043-12C>T)
c.1872-12C>T (n.1872-12C>T)
c.1524-12C>T (n.1524-12C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1495977_1495980delinsCCTTCA1233577841TPOc.2007-12_2007-9delinsCCTT (n.2007-12_2007-9delinsCCTT)
c.1488-12_1488-9delinsCCTT (n.1488-12_1488-9delinsCCTT)
c.1836-12_1836-9delinsCCTT (n.1836-12_1836-9delinsCCTT)
c.1794-12_1794-9delinsCCTT (n.1794-12_1794-9delinsCCTT)
c.431-12_431-9delinsCCTT
n.424+1938_424+1941delinsCCTT
c.429-12_429-9delinsCCTT (n.429-12_429-9delinsCCTT)
n.677+1938_677+1941delinsCCTT
n.2008-12_2008-9delinsCCTT
c.2043-12_2043-9delinsCCTT (n.2043-12_2043-9delinsCCTT)
c.1872-12_1872-9delinsCCTT (n.1872-12_1872-9delinsCCTT)
c.1524-12_1524-9delinsCCTT (n.1524-12_1524-9delinsCCTT)
2g.1495978C=CA1233577843TPOc.2007-11C= (n.2007-11C=)
c.1488-11C= (n.1488-11C=)
c.1836-11C= (n.1836-11C=)
c.1794-11C= (n.1794-11C=)
c.431-11C=
n.424+1939C=
c.429-11C= (n.429-11C=)
n.677+1939C=
n.2008-11C=
c.2043-11C= (n.2043-11C=)
c.1872-11C= (n.1872-11C=)
c.1524-11C= (n.1524-11C=)
2g.1495978C>TCA1026821017TPOc.2007-11C>T (n.2007-11C>T)
c.1488-11C>T (n.1488-11C>T)
c.1836-11C>T (n.1836-11C>T)
c.1794-11C>T (n.1794-11C>T)
c.431-11C>T
n.424+1939C>T
c.429-11C>T (n.429-11C>T)
n.677+1939C>T
n.2008-11C>T
c.2043-11C>T (n.2043-11C>T)
c.1872-11C>T (n.1872-11C>T)
c.1524-11C>T (n.1524-11C>T)
dbSNP gnomAD v3 gnomAD v4
2g.1495980_1495982delCA1511931TPOc.2007-9_2007-7del (n.2007-9_2007-7del)
c.1488-9_1488-7del (n.1488-9_1488-7del)
c.1836-9_1836-7del (n.1836-9_1836-7del)
c.1794-9_1794-7del (n.1794-9_1794-7del)
c.431-9_431-7del
n.424+1941_424+1943del
c.429-9_429-7del (n.429-9_429-7del)
n.677+1941_677+1943del
n.2008-9_2008-7del
c.2043-9_2043-7del (n.2043-9_2043-7del)
c.1872-9_1872-7del (n.1872-9_1872-7del)
c.1524-9_1524-7del (n.1524-9_1524-7del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1495979T>CCA2657646874TPOc.2007-10T>C (n.2007-10T>C)
c.1488-10T>C (n.1488-10T>C)
c.1836-10T>C (n.1836-10T>C)
c.1794-10T>C (n.1794-10T>C)
c.431-10T>C
n.424+1940T>C
c.429-10T>C (n.429-10T>C)
n.677+1940T>C
n.2008-10T>C
c.2043-10T>C (n.2043-10T>C)
c.1872-10T>C (n.1872-10T>C)
c.1524-10T>C (n.1524-10T>C)
gnomAD v4
2g.1495980T>CCA645533549TPOc.2007-9T>C (n.2007-9T>C)
c.1488-9T>C (n.1488-9T>C)
c.1836-9T>C (n.1836-9T>C)
c.1794-9T>C (n.1794-9T>C)
c.431-9T>C
n.424+1941T>C
c.429-9T>C (n.429-9T>C)
n.677+1941T>C
n.2008-9T>C
c.2043-9T>C (n.2043-9T>C)
c.1872-9T>C (n.1872-9T>C)
c.1524-9T>C (n.1524-9T>C)
dbSNP COSMIC COSMIC
2g.1495980T>GCA2657646875TPOc.2007-9T>G (n.2007-9T>G)
c.1488-9T>G (n.1488-9T>G)
c.1836-9T>G (n.1836-9T>G)
c.1794-9T>G (n.1794-9T>G)
c.431-9T>G
n.424+1941T>G
c.429-9T>G (n.429-9T>G)
n.677+1941T>G
n.2008-9T>G
c.2043-9T>G (n.2043-9T>G)
c.1872-9T>G (n.1872-9T>G)
c.1524-9T>G (n.1524-9T>G)
gnomAD v4
2g.1495980T=CA1233577844TPOc.2007-9T= (n.2007-9T=)
c.1488-9T= (n.1488-9T=)
c.1836-9T= (n.1836-9T=)
c.1794-9T= (n.1794-9T=)
c.431-9T=
n.424+1941T=
c.429-9T= (n.429-9T=)
n.677+1941T=
n.2008-9T=
c.2043-9T= (n.2043-9T=)
c.1872-9T= (n.1872-9T=)
c.1524-9T= (n.1524-9T=)
2g.1495984T>CCA1511933TPOc.2007-5T>C (n.2007-5T>C)
c.1488-5T>C (n.1488-5T>C)
c.1836-5T>C (n.1836-5T>C)
c.1794-5T>C (n.1794-5T>C)
c.431-5T>C
n.424+1945T>C
c.429-5T>C (n.429-5T>C)
n.677+1945T>C
n.2008-5T>C
c.2043-5T>C (n.2043-5T>C)
c.1872-5T>C (n.1872-5T>C)
c.1524-5T>C (n.1524-5T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1495984T=CA1233577845TPOc.2007-5T= (n.2007-5T=)
c.1488-5T= (n.1488-5T=)
c.1836-5T= (n.1836-5T=)
c.1794-5T= (n.1794-5T=)
c.431-5T=
n.424+1945T=
c.429-5T= (n.429-5T=)
n.677+1945T=
n.2008-5T=
c.2043-5T= (n.2043-5T=)
c.1872-5T= (n.1872-5T=)
c.1524-5T= (n.1524-5T=)
2g.1495985G>ACA2657646876TPOc.2007-4G>A (n.2007-4G>A)
c.1488-4G>A (n.1488-4G>A)
c.1836-4G>A (n.1836-4G>A)
c.1794-4G>A (n.1794-4G>A)
c.431-4G>A
n.424+1946G>A
c.429-4G>A (n.429-4G>A)
n.677+1946G>A
n.2008-4G>A
c.2043-4G>A (n.2043-4G>A)
c.1872-4G>A (n.1872-4G>A)
c.1524-4G>A (n.1524-4G>A)
gnomAD v4
2g.1495985G>CCA2657646877TPOc.2007-4G>C (n.2007-4G>C)
c.1488-4G>C (n.1488-4G>C)
c.1836-4G>C (n.1836-4G>C)
c.1794-4G>C (n.1794-4G>C)
c.431-4G>C
n.424+1946G>C
c.429-4G>C (n.429-4G>C)
n.677+1946G>C
n.2008-4G>C
c.2043-4G>C (n.2043-4G>C)
c.1872-4G>C (n.1872-4G>C)
c.1524-4G>C (n.1524-4G>C)
gnomAD v4
2g.1495985G>TCA2657646878TPOc.2007-4G>T (n.2007-4G>T)
c.1488-4G>T (n.1488-4G>T)
c.1836-4G>T (n.1836-4G>T)
c.1794-4G>T (n.1794-4G>T)
c.431-4G>T
n.424+1946G>T
c.429-4G>T (n.429-4G>T)
n.677+1946G>T
n.2008-4G>T
c.2043-4G>T (n.2043-4G>T)
c.1872-4G>T (n.1872-4G>T)
c.1524-4G>T (n.1524-4G>T)
gnomAD v4
2g.1495986G>CCA530451029TPOc.2007-3G>C (n.2007-3G>C)
c.1488-3G>C (n.1488-3G>C)
c.1836-3G>C (n.1836-3G>C)
c.1794-3G>C (n.1794-3G>C)
c.431-3G>C
n.424+1947G>C
c.429-3G>C (n.429-3G>C)
n.677+1947G>C
n.2008-3G>C
c.2043-3G>C (n.2043-3G>C)
c.1872-3G>C (n.1872-3G>C)
c.1524-3G>C (n.1524-3G>C)
dbSNP gnomAD v2 gnomAD v4
2g.1495986G=CA1233577846TPOc.2007-3G= (n.2007-3G=)
c.1488-3G= (n.1488-3G=)
c.1836-3G= (n.1836-3G=)
c.1794-3G= (n.1794-3G=)
c.431-3G=
n.424+1947G=
c.429-3G= (n.429-3G=)
n.677+1947G=
n.2008-3G=
c.2043-3G= (n.2043-3G=)
c.1872-3G= (n.1872-3G=)
c.1524-3G= (n.1524-3G=)
2g.1495987A>CCA345697563TPOc.2007-2A>C (n.2007-2A>C)
c.1488-2A>C (n.1488-2A>C)
c.1836-2A>C (n.1836-2A>C)
c.1794-2A>C (n.1794-2A>C)
c.431-2A>C
n.424+1948A>C
c.429-2A>C (n.429-2A>C)
n.677+1948A>C
n.2008-2A>C
c.2043-2A>C (n.2043-2A>C)
c.1872-2A>C (n.1872-2A>C)
c.1524-2A>C (n.1524-2A>C)
2g.1495987A>GCA345697565TPOc.2007-2A>G (n.2007-2A>G)
c.1488-2A>G (n.1488-2A>G)
c.1836-2A>G (n.1836-2A>G)
c.1794-2A>G (n.1794-2A>G)
c.431-2A>G
n.424+1948A>G
c.429-2A>G (n.429-2A>G)
n.677+1948A>G
n.2008-2A>G
c.2043-2A>G (n.2043-2A>G)
c.1872-2A>G (n.1872-2A>G)
c.1524-2A>G (n.1524-2A>G)
2g.1495987A>TCA345697564TPOc.2007-2A>T (n.2007-2A>T)
c.1488-2A>T (n.1488-2A>T)
c.1836-2A>T (n.1836-2A>T)
c.1794-2A>T (n.1794-2A>T)
c.431-2A>T
n.424+1948A>T
c.429-2A>T (n.429-2A>T)
n.677+1948A>T
n.2008-2A>T
c.2043-2A>T (n.2043-2A>T)
c.1872-2A>T (n.1872-2A>T)
c.1524-2A>T (n.1524-2A>T)
2g.1495988G>ACA345697566TPOc.2007-1G>A (n.2007-1G>A)
c.1488-1G>A (n.1488-1G>A)
c.1836-1G>A (n.1836-1G>A)
c.1794-1G>A (n.1794-1G>A)
c.431-1G>A
n.424+1949G>A
c.429-1G>A (n.429-1G>A)
n.677+1949G>A
n.2008-1G>A
c.2043-1G>A (n.2043-1G>A)
c.1872-1G>A (n.1872-1G>A)
c.1524-1G>A (n.1524-1G>A)
dbSNP gnomAD v4
2g.1495988G>CCA345697567TPOc.2007-1G>C (n.2007-1G>C)
c.1488-1G>C (n.1488-1G>C)
c.1836-1G>C (n.1836-1G>C)
c.1794-1G>C (n.1794-1G>C)
c.431-1G>C
n.424+1949G>C
c.429-1G>C (n.429-1G>C)
n.677+1949G>C
n.2008-1G>C
c.2043-1G>C (n.2043-1G>C)
c.1872-1G>C (n.1872-1G>C)
c.1524-1G>C (n.1524-1G>C)
2g.1495988G=CA1233577847TPOc.2007-1G= (n.2007-1G=)
c.1488-1G= (n.1488-1G=)
c.1836-1G= (n.1836-1G=)
c.1794-1G= (n.1794-1G=)
c.431-1G=
n.424+1949G=
c.429-1G= (n.429-1G=)
n.677+1949G=
n.2008-1G=
c.2043-1G= (n.2043-1G=)
c.1872-1G= (n.1872-1G=)
c.1524-1G= (n.1524-1G=)
2g.1495988G>TCA345697568TPOc.2007-1G>T (n.2007-1G>T)
c.1488-1G>T (n.1488-1G>T)
c.1836-1G>T (n.1836-1G>T)
c.1794-1G>T (n.1794-1G>T)
c.431-1G>T
n.424+1949G>T
c.429-1G>T (n.429-1G>T)
n.677+1949G>T
n.2008-1G>T
c.2043-1G>T (n.2043-1G>T)
c.1872-1G>T (n.1872-1G>T)
c.1524-1G>T (n.1524-1G>T)
2g.1495989G>ACA345697569TPOc.2007G>A (p.Trp669Ter)
c.1488G>A (p.Trp496Ter)
c.1836G>A (p.Trp612Ter)
c.1794G>A (p.Trp598Ter)
c.431G>A
n.424+1950G>A
c.429G>A (p.Trp143Ter)
n.677+1950G>A
n.2008G>A
c.2043G>A (p.Trp681Ter)
c.1872G>A (p.Trp624Ter)
c.1524G>A (p.Trp508Ter)
gnomAD v4
2g.1495989G>CCA345697570TPOc.2007G>C (p.Trp669Cys)
c.1488G>C (p.Trp496Cys)
c.1836G>C (p.Trp612Cys)
c.1794G>C (p.Trp598Cys)
c.431G>C
n.424+1950G>C
c.429G>C (p.Trp143Cys)
n.677+1950G>C
n.2008G>C
c.2043G>C (p.Trp681Cys)
c.1872G>C (p.Trp624Cys)
c.1524G>C (p.Trp508Cys)
2g.1495989G=CA1233577848TPOc.2007G= (p.Trp669=)
c.1488G= (p.Trp496=)
c.1836G= (p.Trp612=)
c.1794G= (p.Trp598=)
c.431G=
n.424+1950G=
c.429G= (p.Trp143=)
n.677+1950G=
n.2008G=
c.2043G= (p.Trp681=)
c.1872G= (p.Trp624=)
c.1524G= (p.Trp508=)
2g.1495989G>TCA345697571TPOc.2007G>T (p.Trp669Cys)
c.1488G>T (p.Trp496Cys)
c.1836G>T (p.Trp612Cys)
c.1794G>T (p.Trp598Cys)
c.431G>T
n.424+1950G>T
c.429G>T (p.Trp143Cys)
n.677+1950G>T
n.2008G>T
c.2043G>T (p.Trp681Cys)
c.1872G>T (p.Trp624Cys)
c.1524G>T (p.Trp508Cys)
dbSNP gnomAD v2 gnomAD v4
2g.1495989_1495992delCA2657646879TPOc.2007_2010del (p.Trp669CysfsTer?)
c.1488_1491del (p.Trp496CysfsTer?)
c.1836_1839del (p.Trp612CysfsTer?)
c.1794_1797del (p.Trp598CysfsTer?)
c.431_434del
n.424+1950_424+1953del
c.429_432del (p.Trp143CysfsTer?)
n.677+1950_677+1953del
n.2008_2011del
c.2043_2046del (p.Trp681CysfsTer?)
c.1872_1875del (p.Trp624CysfsTer?)
c.1524_1527del (p.Trp508CysfsTer?)
gnomAD v4
2g.1495990T>ACA345697572TPOc.2008T>A (p.Phe670Ile)
c.1489T>A (p.Phe497Ile)
c.1837T>A (p.Phe613Ile)
c.1795T>A (p.Phe599Ile)
c.432T>A
n.424+1951T>A
c.430T>A (p.Phe144Ile)
n.677+1951T>A
n.2009T>A
c.2044T>A (p.Phe682Ile)
c.1873T>A (p.Phe625Ile)
c.1525T>A (p.Phe509Ile)
2g.1495990T>CCA345697573TPOc.2008T>C (p.Phe670Leu)
c.1489T>C (p.Phe497Leu)
c.1837T>C (p.Phe613Leu)
c.1795T>C (p.Phe599Leu)
c.432T>C
n.424+1951T>C
c.430T>C (p.Phe144Leu)
n.677+1951T>C
n.2009T>C
c.2044T>C (p.Phe682Leu)
c.1873T>C (p.Phe625Leu)
c.1525T>C (p.Phe509Leu)
2g.1495990T>GCA345697574TPOc.2008T>G (p.Phe670Val)
c.1489T>G (p.Phe497Val)
c.1837T>G (p.Phe613Val)
c.1795T>G (p.Phe599Val)
c.432T>G
n.424+1951T>G
c.430T>G (p.Phe144Val)
n.677+1951T>G
n.2009T>G
c.2044T>G (p.Phe682Val)
c.1873T>G (p.Phe625Val)
c.1525T>G (p.Phe509Val)
2g.1495993delCA2657646880TPOc.2011del (p.Trp671GlyfsTer?)
c.1492del (p.Trp498GlyfsTer?)
c.1840del (p.Trp614GlyfsTer?)
c.1798del (p.Trp600GlyfsTer?)
c.435del
n.424+1954del
c.433del (p.Trp145GlyfsTer?)
n.677+1954del
n.2012del
c.2047del (p.Trp683GlyfsTer?)
c.1876del (p.Trp626GlyfsTer?)
c.1528del (p.Trp510GlyfsTer?)
gnomAD v4
2g.1495991T>ACA345697575TPOc.2009T>A (p.Phe670Tyr)
c.1490T>A (p.Phe497Tyr)
c.1838T>A (p.Phe613Tyr)
c.1796T>A (p.Phe599Tyr)
c.433T>A
n.424+1952T>A
c.431T>A (p.Phe144Tyr)
n.677+1952T>A
n.2010T>A
c.2045T>A (p.Phe682Tyr)
c.1874T>A (p.Phe625Tyr)
c.1526T>A (p.Phe509Tyr)
2g.1495991T>CCA345697576TPOc.2009T>C (p.Phe670Ser)
c.1490T>C (p.Phe497Ser)
c.1838T>C (p.Phe613Ser)
c.1796T>C (p.Phe599Ser)
c.433T>C
n.424+1952T>C
c.431T>C (p.Phe144Ser)
n.677+1952T>C
n.2010T>C
c.2045T>C (p.Phe682Ser)
c.1874T>C (p.Phe625Ser)
c.1526T>C (p.Phe509Ser)
2g.1495991T>GCA345697577TPOc.2009T>G (p.Phe670Cys)
c.1490T>G (p.Phe497Cys)
c.1838T>G (p.Phe613Cys)
c.1796T>G (p.Phe599Cys)
c.433T>G
n.424+1952T>G
c.431T>G (p.Phe144Cys)
n.677+1952T>G
n.2010T>G
c.2045T>G (p.Phe682Cys)
c.1874T>G (p.Phe625Cys)
c.1526T>G (p.Phe509Cys)
2g.1495992T>ACA345697579TPOc.2010T>A (p.Phe670Leu)
c.1491T>A (p.Phe497Leu)
c.1839T>A (p.Phe613Leu)
c.1797T>A (p.Phe599Leu)
c.434T>A
n.424+1953T>A
c.432T>A (p.Phe144Leu)
n.677+1953T>A
n.2011T>A
c.2046T>A (p.Phe682Leu)
c.1875T>A (p.Phe625Leu)
c.1527T>A (p.Phe509Leu)
2g.1495992T>CCA1511934TPOc.2010T>C (p.Phe670=)
c.1491T>C (p.Phe497=)
c.1839T>C (p.Phe613=)
c.1797T>C (p.Phe599=)
c.434T>C
n.424+1953T>C
c.432T>C (p.Phe144=)
n.677+1953T>C
n.2011T>C
c.2046T>C (p.Phe682=)
c.1875T>C (p.Phe625=)
c.1527T>C (p.Phe509=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1495992T>GCA345697578TPOc.2010T>G (p.Phe670Leu)
c.1491T>G (p.Phe497Leu)
c.1839T>G (p.Phe613Leu)
c.1797T>G (p.Phe599Leu)
c.434T>G
n.424+1953T>G
c.432T>G (p.Phe144Leu)
n.677+1953T>G
n.2011T>G
c.2046T>G (p.Phe682Leu)
c.1875T>G (p.Phe625Leu)
c.1527T>G (p.Phe509Leu)
2g.1495992T=CA1233577849TPOc.2010T= (p.Phe670=)
c.1491T= (p.Phe497=)
c.1839T= (p.Phe613=)
c.1797T= (p.Phe599=)
c.434T=
n.424+1953T=
c.432T= (p.Phe144=)
n.677+1953T=
n.2011T=
c.2046T= (p.Phe682=)
c.1875T= (p.Phe625=)
c.1527T= (p.Phe509=)
2g.1495993T>ACA345697580TPOc.2011T>A (p.Trp671Arg)
c.1492T>A (p.Trp498Arg)
c.1840T>A (p.Trp614Arg)
c.1798T>A (p.Trp600Arg)
c.435T>A
n.424+1954T>A
c.433T>A (p.Trp145Arg)
n.677+1954T>A
n.2012T>A
c.2047T>A (p.Trp683Arg)
c.1876T>A (p.Trp626Arg)
c.1528T>A (p.Trp510Arg)
2g.1495993T>CCA345697581TPOc.2011T>C (p.Trp671Arg)
c.1492T>C (p.Trp498Arg)
c.1840T>C (p.Trp614Arg)
c.1798T>C (p.Trp600Arg)
c.435T>C
n.424+1954T>C
c.433T>C (p.Trp145Arg)
n.677+1954T>C
n.2012T>C
c.2047T>C (p.Trp683Arg)
c.1876T>C (p.Trp626Arg)
c.1528T>C (p.Trp510Arg)
COSMIC
2g.1495993T>GCA345697582TPOc.2011T>G (p.Trp671Gly)
c.1492T>G (p.Trp498Gly)
c.1840T>G (p.Trp614Gly)
c.1798T>G (p.Trp600Gly)
c.435T>G
n.424+1954T>G
c.433T>G (p.Trp145Gly)
n.677+1954T>G
n.2012T>G
c.2047T>G (p.Trp683Gly)
c.1876T>G (p.Trp626Gly)
c.1528T>G (p.Trp510Gly)
2g.1495994G>ACA345697583TPOc.2012G>A (p.Trp671Ter)
c.1493G>A (p.Trp498Ter)
c.1841G>A (p.Trp614Ter)
c.1799G>A (p.Trp600Ter)
c.436G>A
n.424+1955G>A
c.434G>A (p.Trp145Ter)
n.677+1955G>A
n.2013G>A
c.2048G>A (p.Trp683Ter)
c.1877G>A (p.Trp626Ter)
c.1529G>A (p.Trp510Ter)
2g.1495994G>CCA345697584TPOc.2012G>C (p.Trp671Ser)
c.1493G>C (p.Trp498Ser)
c.1841G>C (p.Trp614Ser)
c.1799G>C (p.Trp600Ser)
c.436G>C
n.424+1955G>C
c.434G>C (p.Trp145Ser)
n.677+1955G>C
n.2013G>C
c.2048G>C (p.Trp683Ser)
c.1877G>C (p.Trp626Ser)
c.1529G>C (p.Trp510Ser)
2g.1495994G=CA1233577850TPOc.2012G= (p.Trp671=)
c.1493G= (p.Trp498=)
c.1841G= (p.Trp614=)
c.1799G= (p.Trp600=)
c.436G=
n.424+1955G=
c.434G= (p.Trp145=)
n.677+1955G=
n.2013G=
c.2048G= (p.Trp683=)
c.1877G= (p.Trp626=)
c.1529G= (p.Trp510=)
2g.1495994G>TCA1511935TPOc.2012G>T (p.Trp671Leu)
c.1493G>T (p.Trp498Leu)
c.1841G>T (p.Trp614Leu)
c.1799G>T (p.Trp600Leu)
c.436G>T
n.424+1955G>T
c.434G>T (p.Trp145Leu)
n.677+1955G>T
n.2013G>T
c.2048G>T (p.Trp683Leu)
c.1877G>T (p.Trp626Leu)
c.1529G>T (p.Trp510Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.1495995G>ACA345697585TPOc.2013G>A (p.Trp671Ter)
c.1494G>A (p.Trp498Ter)
c.1842G>A (p.Trp614Ter)
c.1800G>A (p.Trp600Ter)
c.437G>A
n.424+1956G>A
c.435G>A (p.Trp145Ter)
n.677+1956G>A
n.2014G>A
c.2049G>A (p.Trp683Ter)
c.1878G>A (p.Trp626Ter)
c.1530G>A (p.Trp510Ter)
dbSNP gnomAD v2 gnomAD v4
2g.1495995G>CCA345697586TPOc.2013G>C (p.Trp671Cys)
c.1494G>C (p.Trp498Cys)
c.1842G>C (p.Trp614Cys)
c.1800G>C (p.Trp600Cys)
c.437G>C
n.424+1956G>C
c.435G>C (p.Trp145Cys)
n.677+1956G>C
n.2014G>C
c.2049G>C (p.Trp683Cys)
c.1878G>C (p.Trp626Cys)
c.1530G>C (p.Trp510Cys)
2g.1495995G=CA1233577851TPOc.2013G= (p.Trp671=)
c.1494G= (p.Trp498=)
c.1842G= (p.Trp614=)
c.1800G= (p.Trp600=)
c.437G=
n.424+1956G=
c.435G= (p.Trp145=)
n.677+1956G=
n.2014G=
c.2049G= (p.Trp683=)
c.1878G= (p.Trp626=)
c.1530G= (p.Trp510=)
2g.1495995G>TCA345697587TPOc.2013G>T (p.Trp671Cys)
c.1494G>T (p.Trp498Cys)
c.1842G>T (p.Trp614Cys)
c.1800G>T (p.Trp600Cys)
c.437G>T
n.424+1956G>T
c.435G>T (p.Trp145Cys)
n.677+1956G>T
n.2014G>T
c.2049G>T (p.Trp683Cys)
c.1878G>T (p.Trp626Cys)
c.1530G>T (p.Trp510Cys)
2g.1495996T>ACA345697588TPOc.2014T>A (p.Trp672Arg)
c.1495T>A (p.Trp499Arg)
c.1843T>A (p.Trp615Arg)
c.1801T>A (p.Trp601Arg)
c.438T>A
n.424+1957T>A
c.436T>A (p.Trp146Arg)
n.677+1957T>A
n.2015T>A
c.2050T>A (p.Trp684Arg)
c.1879T>A (p.Trp627Arg)
c.1531T>A (p.Trp511Arg)
2g.1495996T>CCA345697589TPOc.2014T>C (p.Trp672Arg)
c.1495T>C (p.Trp499Arg)
c.1843T>C (p.Trp615Arg)
c.1801T>C (p.Trp601Arg)
c.438T>C
n.424+1957T>C
c.436T>C (p.Trp146Arg)
n.677+1957T>C
n.2015T>C
c.2050T>C (p.Trp684Arg)
c.1879T>C (p.Trp627Arg)
c.1531T>C (p.Trp511Arg)
2g.1495996T>GCA345697590TPOc.2014T>G (p.Trp672Gly)
c.1495T>G (p.Trp499Gly)
c.1843T>G (p.Trp615Gly)
c.1801T>G (p.Trp601Gly)
c.438T>G
n.424+1957T>G
c.436T>G (p.Trp146Gly)
n.677+1957T>G
n.2015T>G
c.2050T>G (p.Trp684Gly)
c.1879T>G (p.Trp627Gly)
c.1531T>G (p.Trp511Gly)
2g.1495997G>ACA345697592TPOc.2015G>A (p.Trp672Ter)
c.1496G>A (p.Trp499Ter)
c.1844G>A (p.Trp615Ter)
c.1802G>A (p.Trp601Ter)
c.439G>A
n.424+1958G>A
c.437G>A (p.Trp146Ter)
n.677+1958G>A
n.2016G>A
c.2051G>A (p.Trp684Ter)
c.1880G>A (p.Trp627Ter)
c.1532G>A (p.Trp511Ter)
2g.1495997G>CCA345697593TPOc.2015G>C (p.Trp672Ser)
c.1496G>C (p.Trp499Ser)
c.1844G>C (p.Trp615Ser)
c.1802G>C (p.Trp601Ser)
c.439G>C
n.424+1958G>C
c.437G>C (p.Trp146Ser)
n.677+1958G>C
n.2016G>C
c.2051G>C (p.Trp684Ser)
c.1880G>C (p.Trp627Ser)
c.1532G>C (p.Trp511Ser)
dbSNP gnomAD v2
2g.1495997G=CA1233577852TPOc.2015G= (p.Trp672=)
c.1496G= (p.Trp499=)
c.1844G= (p.Trp615=)
c.1802G= (p.Trp601=)
c.439G=
n.424+1958G=
c.437G= (p.Trp146=)
n.677+1958G=
n.2016G=
c.2051G= (p.Trp684=)
c.1880G= (p.Trp627=)
c.1532G= (p.Trp511=)
2g.1495997G>TCA345697591TPOc.2015G>T (p.Trp672Leu)
c.1496G>T (p.Trp499Leu)
c.1844G>T (p.Trp615Leu)
c.1802G>T (p.Trp601Leu)
c.439G>T
n.424+1958G>T
c.437G>T (p.Trp146Leu)
n.677+1958G>T
n.2016G>T
c.2051G>T (p.Trp684Leu)
c.1880G>T (p.Trp627Leu)
c.1532G>T (p.Trp511Leu)
2g.1495998G>ACA345697597TPOc.2016G>A (p.Trp672Ter)
c.1497G>A (p.Trp499Ter)
c.1845G>A (p.Trp615Ter)
c.1803G>A (p.Trp601Ter)
c.440G>A
n.424+1959G>A
c.438G>A (p.Trp146Ter)
n.677+1959G>A
n.2017G>A
c.2052G>A (p.Trp684Ter)
c.1881G>A (p.Trp627Ter)
c.1533G>A (p.Trp511Ter)
gnomAD v4
2g.1495998G>CCA345697594TPOc.2016G>C (p.Trp672Cys)
c.1497G>C (p.Trp499Cys)
c.1845G>C (p.Trp615Cys)
c.1803G>C (p.Trp601Cys)
c.440G>C
n.424+1959G>C
c.438G>C (p.Trp146Cys)
n.677+1959G>C
n.2017G>C
c.2052G>C (p.Trp684Cys)
c.1881G>C (p.Trp627Cys)
c.1533G>C (p.Trp511Cys)
2g.1495998G>TCA345697599TPOc.2016G>T (p.Trp672Cys)
c.1497G>T (p.Trp499Cys)
c.1845G>T (p.Trp615Cys)
c.1803G>T (p.Trp601Cys)
c.440G>T
n.424+1959G>T
c.438G>T (p.Trp146Cys)
n.677+1959G>T
n.2017G>T
c.2052G>T (p.Trp684Cys)
c.1881G>T (p.Trp627Cys)
c.1533G>T (p.Trp511Cys)
2g.1495999G>ACA1511936TPOc.2017G>A (p.Glu673Lys)
c.1498G>A (p.Glu500Lys)
c.1846G>A (p.Glu616Lys)
c.1804G>A (p.Glu602Lys)
c.441G>A
n.424+1960G>A
c.439G>A (p.Glu147Lys)
n.677+1960G>A
n.2018G>A
c.2053G>A (p.Glu685Lys)
c.1882G>A (p.Glu628Lys)
c.1534G>A (p.Glu512Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1495999G>CCA345697605TPOc.2017G>C (p.Glu673Gln)
c.1498G>C (p.Glu500Gln)
c.1846G>C (p.Glu616Gln)
c.1804G>C (p.Glu602Gln)
c.441G>C
n.424+1960G>C
c.439G>C (p.Glu147Gln)
n.677+1960G>C
n.2018G>C
c.2053G>C (p.Glu685Gln)
c.1882G>C (p.Glu628Gln)
c.1534G>C (p.Glu512Gln)
2g.1495999G=CA1233577853TPOc.2017G= (p.Glu673=)
c.1498G= (p.Glu500=)
c.1846G= (p.Glu616=)
c.1804G= (p.Glu602=)
c.441G=
n.424+1960G=
c.439G= (p.Glu147=)
n.677+1960G=
n.2018G=
c.2053G= (p.Glu685=)
c.1882G= (p.Glu628=)
c.1534G= (p.Glu512=)
2g.1495999G>TCA345697606TPOc.2017G>T (p.Glu673Ter)
c.1498G>T (p.Glu500Ter)
c.1846G>T (p.Glu616Ter)
c.1804G>T (p.Glu602Ter)
c.441G>T
n.424+1960G>T
c.439G>T (p.Glu147Ter)
n.677+1960G>T
n.2018G>T
c.2053G>T (p.Glu685Ter)
c.1882G>T (p.Glu628Ter)
c.1534G>T (p.Glu512Ter)
2g.1496000A=CA1233577854TPOc.2018A= (p.Glu673=)
c.1499A= (p.Glu500=)
c.1847A= (p.Glu616=)
c.1805A= (p.Glu602=)
c.442A=
n.424+1961A=
c.440A= (p.Glu147=)
n.677+1961A=
n.2019A=
c.2054A= (p.Glu685=)
c.1883A= (p.Glu628=)
c.1535A= (p.Glu512=)
2g.1496000A>CCA345697607TPOc.2018A>C (p.Glu673Ala)
c.1499A>C (p.Glu500Ala)
c.1847A>C (p.Glu616Ala)
c.1805A>C (p.Glu602Ala)
c.442A>C
n.424+1961A>C
c.440A>C (p.Glu147Ala)
n.677+1961A>C
n.2019A>C
c.2054A>C (p.Glu685Ala)
c.1883A>C (p.Glu628Ala)
c.1535A>C (p.Glu512Ala)
2g.1496000A>GCA1511937TPOc.2018A>G (p.Glu673Gly)
c.1499A>G (p.Glu500Gly)
c.1847A>G (p.Glu616Gly)
c.1805A>G (p.Glu602Gly)
c.442A>G
n.424+1961A>G
c.440A>G (p.Glu147Gly)
n.677+1961A>G
n.2019A>G
c.2054A>G (p.Glu685Gly)
c.1883A>G (p.Glu628Gly)
c.1535A>G (p.Glu512Gly)
dbSNP ExAC gnomAD v2
2g.1496000A>TCA345697609TPOc.2018A>T (p.Glu673Val)
c.1499A>T (p.Glu500Val)
c.1847A>T (p.Glu616Val)
c.1805A>T (p.Glu602Val)
c.442A>T
n.424+1961A>T
c.440A>T (p.Glu147Val)
n.677+1961A>T
n.2019A>T
c.2054A>T (p.Glu685Val)
c.1883A>T (p.Glu628Val)
c.1535A>T (p.Glu512Val)
2g.1496001G>ACA424756784TPOc.2019G>A (p.Glu673=)
c.1500G>A (p.Glu500=)
c.1848G>A (p.Glu616=)
c.1806G>A (p.Glu602=)
c.443G>A
n.424+1962G>A
c.441G>A (p.Glu147=)
n.677+1962G>A
n.2020G>A
c.2055G>A (p.Glu685=)
c.1884G>A (p.Glu628=)
c.1536G>A (p.Glu512=)
gnomAD v4
2g.1496001G>CCA345697611TPOc.2019G>C (p.Glu673Asp)
c.1500G>C (p.Glu500Asp)
c.1848G>C (p.Glu616Asp)
c.1806G>C (p.Glu602Asp)
c.443G>C
n.424+1962G>C
c.441G>C (p.Glu147Asp)
n.677+1962G>C
n.2020G>C
c.2055G>C (p.Glu685Asp)
c.1884G>C (p.Glu628Asp)
c.1536G>C (p.Glu512Asp)
2g.1496001G>TCA345697613TPOc.2019G>T (p.Glu673Asp)
c.1500G>T (p.Glu500Asp)
c.1848G>T (p.Glu616Asp)
c.1806G>T (p.Glu602Asp)
c.443G>T
n.424+1962G>T
c.441G>T (p.Glu147Asp)
n.677+1962G>T
n.2020G>T
c.2055G>T (p.Glu685Asp)
c.1884G>T (p.Glu628Asp)
c.1536G>T (p.Glu512Asp)
2g.1496002A>CCA345697615TPOc.2020A>C (p.Asn674His)
c.1501A>C (p.Asn501His)
c.1849A>C (p.Asn617His)
c.1807A>C (p.Asn603His)
c.444A>C
n.424+1963A>C
c.442A>C (p.Asn148His)
n.677+1963A>C
n.2021A>C
c.2056A>C (p.Asn686His)
c.1885A>C (p.Asn629His)
c.1537A>C (p.Asn513His)
2g.1496002A>GCA345697617TPOc.2020A>G (p.Asn674Asp)
c.1501A>G (p.Asn501Asp)
c.1849A>G (p.Asn617Asp)
c.1807A>G (p.Asn603Asp)
c.444A>G
n.424+1963A>G
c.442A>G (p.Asn148Asp)
n.677+1963A>G
n.2021A>G
c.2056A>G (p.Asn686Asp)
c.1885A>G (p.Asn629Asp)
c.1537A>G (p.Asn513Asp)
2g.1496002A>TCA345697619TPOc.2020A>T (p.Asn674Tyr)
c.1501A>T (p.Asn501Tyr)
c.1849A>T (p.Asn617Tyr)
c.1807A>T (p.Asn603Tyr)
c.444A>T
n.424+1963A>T
c.442A>T (p.Asn148Tyr)
n.677+1963A>T
n.2021A>T
c.2056A>T (p.Asn686Tyr)
c.1885A>T (p.Asn629Tyr)
c.1537A>T (p.Asn513Tyr)
2g.1496003A=CA1233577855TPOc.2021A= (p.Asn674=)
c.1502A= (p.Asn501=)
c.1850A= (p.Asn617=)
c.1808A= (p.Asn603=)
c.445A=
n.424+1964A=
c.443A= (p.Asn148=)
n.677+1964A=
n.2022A=
c.2057A= (p.Asn686=)
c.1886A= (p.Asn629=)
c.1538A= (p.Asn513=)
2g.1496003A>CCA345697626TPOc.2021A>C (p.Asn674Thr)
c.1502A>C (p.Asn501Thr)
c.1850A>C (p.Asn617Thr)
c.1808A>C (p.Asn603Thr)
c.445A>C
n.424+1964A>C
c.443A>C (p.Asn148Thr)
n.677+1964A>C
n.2022A>C
c.2057A>C (p.Asn686Thr)
c.1886A>C (p.Asn629Thr)
c.1538A>C (p.Asn513Thr)
2g.1496003A>GCA1511938TPOc.2021A>G (p.Asn674Ser)
c.1502A>G (p.Asn501Ser)
c.1850A>G (p.Asn617Ser)
c.1808A>G (p.Asn603Ser)
c.445A>G
n.424+1964A>G
c.443A>G (p.Asn148Ser)
n.677+1964A>G
n.2022A>G
c.2057A>G (p.Asn686Ser)
c.1886A>G (p.Asn629Ser)
c.1538A>G (p.Asn513Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.1496003A>TCA345697622TPOc.2021A>T (p.Asn674Ile)
c.1502A>T (p.Asn501Ile)
c.1850A>T (p.Asn617Ile)
c.1808A>T (p.Asn603Ile)
c.445A>T
n.424+1964A>T
c.443A>T (p.Asn148Ile)
n.677+1964A>T
n.2022A>T
c.2057A>T (p.Asn686Ile)
c.1886A>T (p.Asn629Ile)
c.1538A>T (p.Asn513Ile)
2g.1496004C>ACA345697627TPOc.2022C>A (p.Asn674Lys)
c.1503C>A (p.Asn501Lys)
c.1851C>A (p.Asn617Lys)
c.1809C>A (p.Asn603Lys)
c.446C>A
n.424+1965C>A
c.444C>A (p.Asn148Lys)
n.677+1965C>A
n.2023C>A
c.2058C>A (p.Asn686Lys)
c.1887C>A (p.Asn629Lys)
c.1539C>A (p.Asn513Lys)
2g.1496004C=CA1233577857TPOc.2022C= (p.Asn674=)
c.1503C= (p.Asn501=)
c.1851C= (p.Asn617=)
c.1809C= (p.Asn603=)
c.446C=
n.424+1965C=
c.444C= (p.Asn148=)
n.677+1965C=
n.2023C=
c.2058C= (p.Asn686=)
c.1887C= (p.Asn629=)
c.1539C= (p.Asn513=)
2g.1496004C>GCA345697628TPOc.2022C>G (p.Asn674Lys)
c.1503C>G (p.Asn501Lys)
c.1851C>G (p.Asn617Lys)
c.1809C>G (p.Asn603Lys)
c.446C>G
n.424+1965C>G
c.444C>G (p.Asn148Lys)
n.677+1965C>G
n.2023C>G
c.2058C>G (p.Asn686Lys)
c.1887C>G (p.Asn629Lys)
c.1539C>G (p.Asn513Lys)
2g.1496004C>TCA41426808TPOc.2022C>T (p.Asn674=)
c.1503C>T (p.Asn501=)
c.1851C>T (p.Asn617=)
c.1809C>T (p.Asn603=)
c.446C>T
n.424+1965C>T
c.444C>T (p.Asn148=)
n.677+1965C>T
n.2023C>T
c.2058C>T (p.Asn686=)
c.1887C>T (p.Asn629=)
c.1539C>T (p.Asn513=)
dbSNP gnomAD v3 gnomAD v4
2g.1496004_1496005delinsCACA1233577856TPOc.2022_2023delinsCA (p.Asn674=)
c.1503_1504delinsCA (p.Asn501=)
c.1851_1852delinsCA (p.Asn617=)
c.1809_1810delinsCA (p.Asn603=)
c.446_447delinsCA
n.424+1965_424+1966delinsCA
c.444_445delinsCA (p.Asn148=)
n.677+1965_677+1966delinsCA
n.2023_2024delinsCA
c.2058_2059delinsCA (p.Asn686=)
c.1887_1888delinsCA (p.Asn629=)
c.1539_1540delinsCA (p.Asn513=)
2g.1496005delCA758649160TPOc.2023del (p.Ser675AlafsTer?)
c.1504del (p.Ser502AlafsTer?)
c.1852del (p.Ser618AlafsTer?)
c.1810del (p.Ser604AlafsTer?)
c.447del
n.424+1966del
c.445del (p.Ser149AlafsTer?)
n.677+1966del
n.2024del
c.2059del (p.Ser687AlafsTer?)
c.1888del (p.Ser630AlafsTer?)
c.1540del (p.Ser514AlafsTer?)
ClinVar dbSNP gnomAD v4
2g.1496005A>CCA345697631TPOc.2023A>C (p.Ser675Arg)
c.1504A>C (p.Ser502Arg)
c.1852A>C (p.Ser618Arg)
c.1810A>C (p.Ser604Arg)
c.447A>C
n.424+1966A>C
c.445A>C (p.Ser149Arg)
n.677+1966A>C
n.2024A>C
c.2059A>C (p.Ser687Arg)
c.1888A>C (p.Ser630Arg)
c.1540A>C (p.Ser514Arg)
gnomAD v4
2g.1496005A>GCA345697633TPOc.2023A>G (p.Ser675Gly)
c.1504A>G (p.Ser502Gly)
c.1852A>G (p.Ser618Gly)
c.1810A>G (p.Ser604Gly)
c.447A>G
n.424+1966A>G
c.445A>G (p.Ser149Gly)
n.677+1966A>G
n.2024A>G
c.2059A>G (p.Ser687Gly)
c.1888A>G (p.Ser630Gly)
c.1540A>G (p.Ser514Gly)
2g.1496005A>TCA345697634TPOc.2023A>T (p.Ser675Cys)
c.1504A>T (p.Ser502Cys)
c.1852A>T (p.Ser618Cys)
c.1810A>T (p.Ser604Cys)
c.447A>T
n.424+1966A>T
c.445A>T (p.Ser149Cys)
n.677+1966A>T
n.2024A>T
c.2059A>T (p.Ser687Cys)
c.1888A>T (p.Ser630Cys)
c.1540A>T (p.Ser514Cys)
2g.1496006G>ACA345697636TPOc.2024G>A (p.Ser675Asn)
c.1505G>A (p.Ser502Asn)
c.1853G>A (p.Ser618Asn)
c.1811G>A (p.Ser604Asn)
c.448G>A
n.424+1967G>A
c.446G>A (p.Ser149Asn)
n.677+1967G>A
n.2025G>A
c.2060G>A (p.Ser687Asn)
c.1889G>A (p.Ser630Asn)
c.1541G>A (p.Ser514Asn)
2g.1496006G>CCA345697639TPOc.2024G>C (p.Ser675Thr)
c.1505G>C (p.Ser502Thr)
c.1853G>C (p.Ser618Thr)
c.1811G>C (p.Ser604Thr)
c.448G>C
n.424+1967G>C
c.446G>C (p.Ser149Thr)
n.677+1967G>C
n.2025G>C
c.2060G>C (p.Ser687Thr)
c.1889G>C (p.Ser630Thr)
c.1541G>C (p.Ser514Thr)
2g.1496006G>TCA345697641TPOc.2024G>T (p.Ser675Ile)
c.1505G>T (p.Ser502Ile)
c.1853G>T (p.Ser618Ile)
c.1811G>T (p.Ser604Ile)
c.448G>T
n.424+1967G>T
c.446G>T (p.Ser149Ile)
n.677+1967G>T
n.2025G>T
c.2060G>T (p.Ser687Ile)
c.1889G>T (p.Ser630Ile)
c.1541G>T (p.Ser514Ile)
2g.1496007C>ACA345697642TPOc.2025C>A (p.Ser675Arg)
c.1506C>A (p.Ser502Arg)
c.1854C>A (p.Ser618Arg)
c.1812C>A (p.Ser604Arg)
c.449C>A
n.424+1968C>A
c.447C>A (p.Ser149Arg)
n.677+1968C>A
n.2026C>A
c.2061C>A (p.Ser687Arg)
c.1890C>A (p.Ser630Arg)
c.1542C>A (p.Ser514Arg)
2g.1496007C=CA1233577858TPOc.2025C= (p.Ser675=)
c.1506C= (p.Ser502=)
c.1854C= (p.Ser618=)
c.1812C= (p.Ser604=)
c.449C=
n.424+1968C=
c.447C= (p.Ser149=)
n.677+1968C=
n.2026C=
c.2061C= (p.Ser687=)
c.1890C= (p.Ser630=)
c.1542C= (p.Ser514=)
2g.1496007C>GCA345697643TPOc.2025C>G (p.Ser675Arg)
c.1506C>G (p.Ser502Arg)
c.1854C>G (p.Ser618Arg)
c.1812C>G (p.Ser604Arg)
c.449C>G
n.424+1968C>G
c.447C>G (p.Ser149Arg)
n.677+1968C>G
n.2026C>G
c.2061C>G (p.Ser687Arg)
c.1890C>G (p.Ser630Arg)
c.1542C>G (p.Ser514Arg)
2g.1496007C>TCA424756793TPOc.2025C>T (p.Ser675=)
c.1506C>T (p.Ser502=)
c.1854C>T (p.Ser618=)
c.1812C>T (p.Ser604=)
c.449C>T
n.424+1968C>T
c.447C>T (p.Ser149=)
n.677+1968C>T
n.2026C>T
c.2061C>T (p.Ser687=)
c.1890C>T (p.Ser630=)
c.1542C>T (p.Ser514=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.1496008C>ACA345697645TPOc.2026C>A (p.His676Asn)
c.1507C>A (p.His503Asn)
c.1855C>A (p.His619Asn)
c.1813C>A (p.His605Asn)
c.450C>A
n.424+1969C>A
c.448C>A (p.His150Asn)
n.677+1969C>A
n.2027C>A
c.2062C>A (p.His688Asn)
c.1891C>A (p.His631Asn)
c.1543C>A (p.His515Asn)
2g.1496008C=CA1233577859TPOc.2026C= (p.His676=)
c.1507C= (p.His503=)
c.1855C= (p.His619=)
c.1813C= (p.His605=)
c.450C=
n.424+1969C=
c.448C= (p.His150=)
n.677+1969C=
n.2027C=
c.2062C= (p.His688=)
c.1891C= (p.His631=)
c.1543C= (p.His515=)
2g.1496008C>GCA345697649TPOc.2026C>G (p.His676Asp)
c.1507C>G (p.His503Asp)
c.1855C>G (p.His619Asp)
c.1813C>G (p.His605Asp)
c.450C>G
n.424+1969C>G
c.448C>G (p.His150Asp)
n.677+1969C>G
n.2027C>G
c.2062C>G (p.His688Asp)
c.1891C>G (p.His631Asp)
c.1543C>G (p.His515Asp)
dbSNP gnomAD v2 gnomAD v4
2g.1496008C>TCA345697651TPOc.2026C>T (p.His676Tyr)
c.1507C>T (p.His503Tyr)
c.1855C>T (p.His619Tyr)
c.1813C>T (p.His605Tyr)
c.450C>T
n.424+1969C>T
c.448C>T (p.His150Tyr)
n.677+1969C>T
n.2027C>T
c.2062C>T (p.His688Tyr)
c.1891C>T (p.His631Tyr)
c.1543C>T (p.His515Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.1496009A>CCA345697656TPOc.2027A>C (p.His676Pro)
c.1508A>C (p.His503Pro)
c.1856A>C (p.His619Pro)
c.1814A>C (p.His605Pro)
c.451A>C
n.424+1970A>C
c.449A>C (p.His150Pro)
n.677+1970A>C
n.2028A>C
c.2063A>C (p.His688Pro)
c.1892A>C (p.His631Pro)
c.1544A>C (p.His515Pro)
dbSNP
2g.1496009A>GCA345697659TPOc.2027A>G (p.His676Arg)
c.1508A>G (p.His503Arg)
c.1856A>G (p.His619Arg)
c.1814A>G (p.His605Arg)
c.451A>G
n.424+1970A>G
c.449A>G (p.His150Arg)
n.677+1970A>G
n.2028A>G
c.2063A>G (p.His688Arg)
c.1892A>G (p.His631Arg)
c.1544A>G (p.His515Arg)
2g.1496009A>TCA345697654TPOc.2027A>T (p.His676Leu)
c.1508A>T (p.His503Leu)
c.1856A>T (p.His619Leu)
c.1814A>T (p.His605Leu)
c.451A>T
n.424+1970A>T
c.449A>T (p.His150Leu)
n.677+1970A>T
n.2028A>T
c.2063A>T (p.His688Leu)
c.1892A>T (p.His631Leu)
c.1544A>T (p.His515Leu)
2g.1496010C>ACA1511939TPOc.2028C>A (p.His676Gln)
c.1509C>A (p.His503Gln)
c.1857C>A (p.His619Gln)
c.1815C>A (p.His605Gln)
c.452C>A
n.424+1971C>A
c.450C>A (p.His150Gln)
n.677+1971C>A
n.2029C>A
c.2064C>A (p.His688Gln)
c.1893C>A (p.His631Gln)
c.1545C>A (p.His515Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.1496010C=CA1233577860TPOc.2028C= (p.His676=)
c.1509C= (p.His503=)
c.1857C= (p.His619=)
c.1815C= (p.His605=)
c.452C=
n.424+1971C=
c.450C= (p.His150=)
n.677+1971C=
n.2029C=
c.2064C= (p.His688=)
c.1893C= (p.His631=)
c.1545C= (p.His515=)
2g.1496010C>GCA345697662TPOc.2028C>G (p.His676Gln)
c.1509C>G (p.His503Gln)
c.1857C>G (p.His619Gln)
c.1815C>G (p.His605Gln)
c.452C>G
n.424+1971C>G
c.450C>G (p.His150Gln)
n.677+1971C>G
n.2029C>G
c.2064C>G (p.His688Gln)
c.1893C>G (p.His631Gln)
c.1545C>G (p.His515Gln)
2g.1496010C>TCA1511940TPOc.2028C>T (p.His676=)
c.1509C>T (p.His503=)
c.1857C>T (p.His619=)
c.1815C>T (p.His605=)
c.452C>T
n.424+1971C>T
c.450C>T (p.His150=)
n.677+1971C>T
n.2029C>T
c.2064C>T (p.His688=)
c.1893C>T (p.His631=)
c.1545C>T (p.His515=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496011G>ACA1511941TPOc.2029G>A (p.Val677Ile)
c.1510G>A (p.Val504Ile)
c.1858G>A (p.Val620Ile)
c.1816G>A (p.Val606Ile)
c.453G>A
n.424+1972G>A
c.451G>A (p.Val151Ile)
n.677+1972G>A
n.2030G>A
c.2065G>A (p.Val689Ile)
c.1894G>A (p.Val632Ile)
c.1546G>A (p.Val516Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496011G>CCA345697665TPOc.2029G>C (p.Val677Leu)
c.1510G>C (p.Val504Leu)
c.1858G>C (p.Val620Leu)
c.1816G>C (p.Val606Leu)
c.453G>C
n.424+1972G>C
c.451G>C (p.Val151Leu)
n.677+1972G>C
n.2030G>C
c.2065G>C (p.Val689Leu)
c.1894G>C (p.Val632Leu)
c.1546G>C (p.Val516Leu)
2g.1496011G=CA1233577861TPOc.2029G= (p.Val677=)
c.1510G= (p.Val504=)
c.1858G= (p.Val620=)
c.1816G= (p.Val606=)
c.453G=
n.424+1972G=
c.451G= (p.Val151=)
n.677+1972G=
n.2030G=
c.2065G= (p.Val689=)
c.1894G= (p.Val632=)
c.1546G= (p.Val516=)
2g.1496011G>TCA345697667TPOc.2029G>T (p.Val677Phe)
c.1510G>T (p.Val504Phe)
c.1858G>T (p.Val620Phe)
c.1816G>T (p.Val606Phe)
c.453G>T
n.424+1972G>T
c.451G>T (p.Val151Phe)
n.677+1972G>T
n.2030G>T
c.2065G>T (p.Val689Phe)
c.1894G>T (p.Val632Phe)
c.1546G>T (p.Val516Phe)
2g.1496012T>ACA345697669TPOc.2030T>A (p.Val677Asp)
c.1511T>A (p.Val504Asp)
c.1859T>A (p.Val620Asp)
c.1817T>A (p.Val606Asp)
c.454T>A
n.424+1973T>A
c.452T>A (p.Val151Asp)
n.677+1973T>A
n.2031T>A
c.2066T>A (p.Val689Asp)
c.1895T>A (p.Val632Asp)
c.1547T>A (p.Val516Asp)
2g.1496012T>CCA345697671TPOc.2030T>C (p.Val677Ala)
c.1511T>C (p.Val504Ala)
c.1859T>C (p.Val620Ala)
c.1817T>C (p.Val606Ala)
c.454T>C
n.424+1973T>C
c.452T>C (p.Val151Ala)
n.677+1973T>C
n.2031T>C
c.2066T>C (p.Val689Ala)
c.1895T>C (p.Val632Ala)
c.1547T>C (p.Val516Ala)
dbSNP
2g.1496012T>GCA345697673TPOc.2030T>G (p.Val677Gly)
c.1511T>G (p.Val504Gly)
c.1859T>G (p.Val620Gly)
c.1817T>G (p.Val606Gly)
c.454T>G
n.424+1973T>G
c.452T>G (p.Val151Gly)
n.677+1973T>G
n.2031T>G
c.2066T>G (p.Val689Gly)
c.1895T>G (p.Val632Gly)
c.1547T>G (p.Val516Gly)
2g.1496013C>ACA424756802TPOc.2031C>A (p.Val677=)
c.1512C>A (p.Val504=)
c.1860C>A (p.Val620=)
c.1818C>A (p.Val606=)
c.455C>A
n.424+1974C>A
c.453C>A (p.Val151=)
n.677+1974C>A
n.2032C>A
c.2067C>A (p.Val689=)
c.1896C>A (p.Val632=)
c.1548C>A (p.Val516=)
2g.1496013C>GCA424756800TPOc.2031C>G (p.Val677=)
c.1512C>G (p.Val504=)
c.1860C>G (p.Val620=)
c.1818C>G (p.Val606=)
c.455C>G
n.424+1974C>G
c.453C>G (p.Val151=)
n.677+1974C>G
n.2032C>G
c.2067C>G (p.Val689=)
c.1896C>G (p.Val632=)
c.1548C>G (p.Val516=)
2g.1496013C>TCA424756801TPOc.2031C>T (p.Val677=)
c.1512C>T (p.Val504=)
c.1860C>T (p.Val620=)
c.1818C>T (p.Val606=)
c.455C>T
n.424+1974C>T
c.453C>T (p.Val151=)
n.677+1974C>T
n.2032C>T
c.2067C>T (p.Val689=)
c.1896C>T (p.Val632=)
c.1548C>T (p.Val516=)
2g.1496014T>ACA345697676TPOc.2032T>A (p.Phe678Ile)
c.1513T>A (p.Phe505Ile)
c.1861T>A (p.Phe621Ile)
c.1819T>A (p.Phe607Ile)
c.456T>A
n.424+1975T>A
c.454T>A (p.Phe152Ile)
n.677+1975T>A
n.2033T>A
c.2068T>A (p.Phe690Ile)
c.1897T>A (p.Phe633Ile)
c.1549T>A (p.Phe517Ile)
2g.1496014T>CCA41426829TPOc.2032T>C (p.Phe678Leu)
c.1513T>C (p.Phe505Leu)
c.1861T>C (p.Phe621Leu)
c.1819T>C (p.Phe607Leu)
c.456T>C
n.424+1975T>C
c.454T>C (p.Phe152Leu)
n.677+1975T>C
n.2033T>C
c.2068T>C (p.Phe690Leu)
c.1897T>C (p.Phe633Leu)
c.1549T>C (p.Phe517Leu)
dbSNP
2g.1496014T>GCA345697679TPOc.2032T>G (p.Phe678Val)
c.1513T>G (p.Phe505Val)
c.1861T>G (p.Phe621Val)
c.1819T>G (p.Phe607Val)
c.456T>G
n.424+1975T>G
c.454T>G (p.Phe152Val)
n.677+1975T>G
n.2033T>G
c.2068T>G (p.Phe690Val)
c.1897T>G (p.Phe633Val)
c.1549T>G (p.Phe517Val)
2g.1496014T=CA1233577862TPOc.2032T= (p.Phe678=)
c.1513T= (p.Phe505=)
c.1861T= (p.Phe621=)
c.1819T= (p.Phe607=)
c.456T=
n.424+1975T=
c.454T= (p.Phe152=)
n.677+1975T=
n.2033T=
c.2068T= (p.Phe690=)
c.1897T= (p.Phe633=)
c.1549T= (p.Phe517=)
2g.1496015T>ACA345697684TPOc.2033T>A (p.Phe678Tyr)
c.1514T>A (p.Phe505Tyr)
c.1862T>A (p.Phe621Tyr)
c.1820T>A (p.Phe607Tyr)
c.457T>A
n.424+1976T>A
c.455T>A (p.Phe152Tyr)
n.677+1976T>A
n.2034T>A
c.2069T>A (p.Phe690Tyr)
c.1898T>A (p.Phe633Tyr)
c.1550T>A (p.Phe517Tyr)
2g.1496015T>CCA345697685TPOc.2033T>C (p.Phe678Ser)
c.1514T>C (p.Phe505Ser)
c.1862T>C (p.Phe621Ser)
c.1820T>C (p.Phe607Ser)
c.457T>C
n.424+1976T>C
c.455T>C (p.Phe152Ser)
n.677+1976T>C
n.2034T>C
c.2069T>C (p.Phe690Ser)
c.1898T>C (p.Phe633Ser)
c.1550T>C (p.Phe517Ser)
2g.1496015T>GCA345697683TPOc.2033T>G (p.Phe678Cys)
c.1514T>G (p.Phe505Cys)
c.1862T>G (p.Phe621Cys)
c.1820T>G (p.Phe607Cys)
c.457T>G
n.424+1976T>G
c.455T>G (p.Phe152Cys)
n.677+1976T>G
n.2034T>G
c.2069T>G (p.Phe690Cys)
c.1898T>G (p.Phe633Cys)
c.1550T>G (p.Phe517Cys)
2g.1496016C>ACA345697686TPOc.2034C>A (p.Phe678Leu)
c.1515C>A (p.Phe505Leu)
c.1863C>A (p.Phe621Leu)
c.1821C>A (p.Phe607Leu)
c.458C>A
n.424+1977C>A
c.456C>A (p.Phe152Leu)
n.677+1977C>A
n.2035C>A
c.2070C>A (p.Phe690Leu)
c.1899C>A (p.Phe633Leu)
c.1551C>A (p.Phe517Leu)
2g.1496016C=CA1233577863TPOc.2034C= (p.Phe678=)
c.1515C= (p.Phe505=)
c.1863C= (p.Phe621=)
c.1821C= (p.Phe607=)
c.458C=
n.424+1977C=
c.456C= (p.Phe152=)
n.677+1977C=
n.2035C=
c.2070C= (p.Phe690=)
c.1899C= (p.Phe633=)
c.1551C= (p.Phe517=)
2g.1496016C>GCA345697688TPOc.2034C>G (p.Phe678Leu)
c.1515C>G (p.Phe505Leu)
c.1863C>G (p.Phe621Leu)
c.1821C>G (p.Phe607Leu)
c.458C>G
n.424+1977C>G
c.456C>G (p.Phe152Leu)
n.677+1977C>G
n.2035C>G
c.2070C>G (p.Phe690Leu)
c.1899C>G (p.Phe633Leu)
c.1551C>G (p.Phe517Leu)
2g.1496016C>TCA424756807TPOc.2034C>T (p.Phe678=)
c.1515C>T (p.Phe505=)
c.1863C>T (p.Phe621=)
c.1821C>T (p.Phe607=)
c.458C>T
n.424+1977C>T
c.456C>T (p.Phe152=)
n.677+1977C>T
n.2035C>T
c.2070C>T (p.Phe690=)
c.1899C>T (p.Phe633=)
c.1551C>T (p.Phe517=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.1496017A=CA1233577864TPOc.2035A= (p.Thr679=)
c.1516A= (p.Thr506=)
c.1864A= (p.Thr622=)
c.1822A= (p.Thr608=)
c.459A=
n.424+1978A=
c.457A= (p.Thr153=)
n.677+1978A=
n.2036A=
c.2071A= (p.Thr691=)
c.1900A= (p.Thr634=)
c.1552A= (p.Thr518=)
2g.1496017A>CCA345697691TPOc.2035A>C (p.Thr679Pro)
c.1516A>C (p.Thr506Pro)
c.1864A>C (p.Thr622Pro)
c.1822A>C (p.Thr608Pro)
c.459A>C
n.424+1978A>C
c.457A>C (p.Thr153Pro)
n.677+1978A>C
n.2036A>C
c.2071A>C (p.Thr691Pro)
c.1900A>C (p.Thr634Pro)
c.1552A>C (p.Thr518Pro)
dbSNP gnomAD v2 gnomAD v4
2g.1496017A>GCA345697697TPOc.2035A>G (p.Thr679Ala)
c.1516A>G (p.Thr506Ala)
c.1864A>G (p.Thr622Ala)
c.1822A>G (p.Thr608Ala)
c.459A>G
n.424+1978A>G
c.457A>G (p.Thr153Ala)
n.677+1978A>G
n.2036A>G
c.2071A>G (p.Thr691Ala)
c.1900A>G (p.Thr634Ala)
c.1552A>G (p.Thr518Ala)
2g.1496017A>TCA345697698TPOc.2035A>T (p.Thr679Ser)
c.1516A>T (p.Thr506Ser)
c.1864A>T (p.Thr622Ser)
c.1822A>T (p.Thr608Ser)
c.459A>T
n.424+1978A>T
c.457A>T (p.Thr153Ser)
n.677+1978A>T
n.2036A>T
c.2071A>T (p.Thr691Ser)
c.1900A>T (p.Thr634Ser)
c.1552A>T (p.Thr518Ser)
2g.1496018C>ACA345697704TPOc.2036C>A (p.Thr679Lys)
c.1517C>A (p.Thr506Lys)
c.1865C>A (p.Thr622Lys)
c.1823C>A (p.Thr608Lys)
c.460C>A
n.424+1979C>A
c.458C>A (p.Thr153Lys)
n.677+1979C>A
n.2037C>A
c.2072C>A (p.Thr691Lys)
c.1901C>A (p.Thr634Lys)
c.1553C>A (p.Thr518Lys)
2g.1496018C=CA1233577865TPOc.2036C= (p.Thr679=)
c.1517C= (p.Thr506=)
c.1865C= (p.Thr622=)
c.1823C= (p.Thr608=)
c.460C=
n.424+1979C=
c.458C= (p.Thr153=)
n.677+1979C=
n.2037C=
c.2072C= (p.Thr691=)
c.1901C= (p.Thr634=)
c.1553C= (p.Thr518=)
2g.1496018C>GCA345697702TPOc.2036C>G (p.Thr679Arg)
c.1517C>G (p.Thr506Arg)
c.1865C>G (p.Thr622Arg)
c.1823C>G (p.Thr608Arg)
c.460C>G
n.424+1979C>G
c.458C>G (p.Thr153Arg)
n.677+1979C>G
n.2037C>G
c.2072C>G (p.Thr691Arg)
c.1901C>G (p.Thr634Arg)
c.1553C>G (p.Thr518Arg)
2g.1496018C>TCA345697701TPOc.2036C>T (p.Thr679Met)
c.1517C>T (p.Thr506Met)
c.1865C>T (p.Thr622Met)
c.1823C>T (p.Thr608Met)
c.460C>T
n.424+1979C>T
c.458C>T (p.Thr153Met)
n.677+1979C>T
n.2037C>T
c.2072C>T (p.Thr691Met)
c.1901C>T (p.Thr634Met)
c.1553C>T (p.Thr518Met)
dbSNP gnomAD v2 gnomAD v4
2g.1496019G>ACA1511942TPOc.2037G>A (p.Thr679=)
c.1518G>A (p.Thr506=)
c.1866G>A (p.Thr622=)
c.1824G>A (p.Thr608=)
c.461G>A
n.424+1980G>A
c.459G>A (p.Thr153=)
n.677+1980G>A
n.2038G>A
c.2073G>A (p.Thr691=)
c.1902G>A (p.Thr634=)
c.1554G>A (p.Thr518=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496019G>CCA424756810TPOc.2037G>C (p.Thr679=)
c.1518G>C (p.Thr506=)
c.1866G>C (p.Thr622=)
c.1824G>C (p.Thr608=)
c.461G>C
n.424+1980G>C
c.459G>C (p.Thr153=)
n.677+1980G>C
n.2038G>C
c.2073G>C (p.Thr691=)
c.1902G>C (p.Thr634=)
c.1554G>C (p.Thr518=)
2g.1496019G=CA1233577866TPOc.2037G= (p.Thr679=)
c.1518G= (p.Thr506=)
c.1866G= (p.Thr622=)
c.1824G= (p.Thr608=)
c.461G=
n.424+1980G=
c.459G= (p.Thr153=)
n.677+1980G=
n.2038G=
c.2073G= (p.Thr691=)
c.1902G= (p.Thr634=)
c.1554G= (p.Thr518=)
2g.1496019G>TCA424756813TPOc.2037G>T (p.Thr679=)
c.1518G>T (p.Thr506=)
c.1866G>T (p.Thr622=)
c.1824G>T (p.Thr608=)
c.461G>T
n.424+1980G>T
c.459G>T (p.Thr153=)
n.677+1980G>T
n.2038G>T
c.2073G>T (p.Thr691=)
c.1902G>T (p.Thr634=)
c.1554G>T (p.Thr518=)
2g.1496020G>ACA345697708TPOc.2038G>A (p.Asp680Asn)
c.1519G>A (p.Asp507Asn)
c.1867G>A (p.Asp623Asn)
c.1825G>A (p.Asp609Asn)
c.462G>A
n.424+1981G>A
c.460G>A (p.Asp154Asn)
n.677+1981G>A
n.2039G>A
c.2074G>A (p.Asp692Asn)
c.1903G>A (p.Asp635Asn)
c.1555G>A (p.Asp519Asn)
COSMIC COSMIC
2g.1496020G>CCA345697710TPOc.2038G>C (p.Asp680His)
c.1519G>C (p.Asp507His)
c.1867G>C (p.Asp623His)
c.1825G>C (p.Asp609His)
c.462G>C
n.424+1981G>C
c.460G>C (p.Asp154His)
n.677+1981G>C
n.2039G>C
c.2074G>C (p.Asp692His)
c.1903G>C (p.Asp635His)
c.1555G>C (p.Asp519His)
2g.1496020G>TCA345697712TPOc.2038G>T (p.Asp680Tyr)
c.1519G>T (p.Asp507Tyr)
c.1867G>T (p.Asp623Tyr)
c.1825G>T (p.Asp609Tyr)
c.462G>T
n.424+1981G>T
c.460G>T (p.Asp154Tyr)
n.677+1981G>T
n.2039G>T
c.2074G>T (p.Asp692Tyr)
c.1903G>T (p.Asp635Tyr)
c.1555G>T (p.Asp519Tyr)
gnomAD v4
2g.1496021A=CA1233577867TPOc.2039A= (p.Asp680=)
c.1520A= (p.Asp507=)
c.1868A= (p.Asp623=)
c.1826A= (p.Asp609=)
c.463A=
n.424+1982A=
c.461A= (p.Asp154=)
n.677+1982A=
n.2040A=
c.2075A= (p.Asp692=)
c.1904A= (p.Asp635=)
c.1556A= (p.Asp519=)
2g.1496021A>CCA345697715TPOc.2039A>C (p.Asp680Ala)
c.1520A>C (p.Asp507Ala)
c.1868A>C (p.Asp623Ala)
c.1826A>C (p.Asp609Ala)
c.463A>C
n.424+1982A>C
c.461A>C (p.Asp154Ala)
n.677+1982A>C
n.2040A>C
c.2075A>C (p.Asp692Ala)
c.1904A>C (p.Asp635Ala)
c.1556A>C (p.Asp519Ala)
2g.1496021A>GCA1511943TPOc.2039A>G (p.Asp680Gly)
c.1520A>G (p.Asp507Gly)
c.1868A>G (p.Asp623Gly)
c.1826A>G (p.Asp609Gly)
c.463A>G
n.424+1982A>G
c.461A>G (p.Asp154Gly)
n.677+1982A>G
n.2040A>G
c.2075A>G (p.Asp692Gly)
c.1904A>G (p.Asp635Gly)
c.1556A>G (p.Asp519Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496021A>TCA41426846TPOc.2039A>T (p.Asp680Val)
c.1520A>T (p.Asp507Val)
c.1868A>T (p.Asp623Val)
c.1826A>T (p.Asp609Val)
c.463A>T
n.424+1982A>T
c.461A>T (p.Asp154Val)
n.677+1982A>T
n.2040A>T
c.2075A>T (p.Asp692Val)
c.1904A>T (p.Asp635Val)
c.1556A>T (p.Asp519Val)
dbSNP
2g.1496022T>ACA345697719TPOc.2040T>A (p.Asp680Glu)
c.1521T>A (p.Asp507Glu)
c.1869T>A (p.Asp623Glu)
c.1827T>A (p.Asp609Glu)
c.464T>A
n.424+1983T>A
c.462T>A (p.Asp154Glu)
n.677+1983T>A
n.2041T>A
c.2076T>A (p.Asp692Glu)
c.1905T>A (p.Asp635Glu)
c.1557T>A (p.Asp519Glu)
2g.1496022T>CCA424756820TPOc.2040T>C (p.Asp680=)
c.1521T>C (p.Asp507=)
c.1869T>C (p.Asp623=)
c.1827T>C (p.Asp609=)
c.464T>C
n.424+1983T>C
c.462T>C (p.Asp154=)
n.677+1983T>C
n.2041T>C
c.2076T>C (p.Asp692=)
c.1905T>C (p.Asp635=)
c.1557T>C (p.Asp519=)
2g.1496022T>GCA345697720TPOc.2040T>G (p.Asp680Glu)
c.1521T>G (p.Asp507Glu)
c.1869T>G (p.Asp623Glu)
c.1827T>G (p.Asp609Glu)
c.464T>G
n.424+1983T>G
c.462T>G (p.Asp154Glu)
n.677+1983T>G
n.2041T>G
c.2076T>G (p.Asp692Glu)
c.1905T>G (p.Asp635Glu)
c.1557T>G (p.Asp519Glu)
2g.1496023G>ACA345697722TPOc.2041G>A (p.Ala681Thr)
c.1522G>A (p.Ala508Thr)
c.1870G>A (p.Ala624Thr)
c.1828G>A (p.Ala610Thr)
c.465G>A
n.424+1984G>A
c.463G>A (p.Ala155Thr)
n.677+1984G>A
n.2042G>A
c.2077G>A (p.Ala693Thr)
c.1906G>A (p.Ala636Thr)
c.1558G>A (p.Ala520Thr)
dbSNP gnomAD v4
2g.1496023G>CCA345697726TPOc.2041G>C (p.Ala681Pro)
c.1522G>C (p.Ala508Pro)
c.1870G>C (p.Ala624Pro)
c.1828G>C (p.Ala610Pro)
c.465G>C
n.424+1984G>C
c.463G>C (p.Ala155Pro)
n.677+1984G>C
n.2042G>C
c.2077G>C (p.Ala693Pro)
c.1906G>C (p.Ala636Pro)
c.1558G>C (p.Ala520Pro)
2g.1496023G=CA1233577868TPOc.2041G= (p.Ala681=)
c.1522G= (p.Ala508=)
c.1870G= (p.Ala624=)
c.1828G= (p.Ala610=)
c.465G=
n.424+1984G=
c.463G= (p.Ala155=)
n.677+1984G=
n.2042G=
c.2077G= (p.Ala693=)
c.1906G= (p.Ala636=)
c.1558G= (p.Ala520=)
2g.1496023G>TCA345697724TPOc.2041G>T (p.Ala681Ser)
c.1522G>T (p.Ala508Ser)
c.1870G>T (p.Ala624Ser)
c.1828G>T (p.Ala610Ser)
c.465G>T
n.424+1984G>T
c.463G>T (p.Ala155Ser)
n.677+1984G>T
n.2042G>T
c.2077G>T (p.Ala693Ser)
c.1906G>T (p.Ala636Ser)
c.1558G>T (p.Ala520Ser)
COSMIC COSMIC
2g.1496024C>ACA345697729TPOc.2042C>A (p.Ala681Glu)
c.1523C>A (p.Ala508Glu)
c.1871C>A (p.Ala624Glu)
c.1829C>A (p.Ala610Glu)
c.466C>A
n.424+1985C>A
c.464C>A (p.Ala155Glu)
n.677+1985C>A
n.2043C>A
c.2078C>A (p.Ala693Glu)
c.1907C>A (p.Ala636Glu)
c.1559C>A (p.Ala520Glu)
2g.1496024C>GCA345697731TPOc.2042C>G (p.Ala681Gly)
c.1523C>G (p.Ala508Gly)
c.1871C>G (p.Ala624Gly)
c.1829C>G (p.Ala610Gly)
c.466C>G
n.424+1985C>G
c.464C>G (p.Ala155Gly)
n.677+1985C>G
n.2043C>G
c.2078C>G (p.Ala693Gly)
c.1907C>G (p.Ala636Gly)
c.1559C>G (p.Ala520Gly)
2g.1496024C>TCA345697737TPOc.2042C>T (p.Ala681Val)
c.1523C>T (p.Ala508Val)
c.1871C>T (p.Ala624Val)
c.1829C>T (p.Ala610Val)
c.466C>T
n.424+1985C>T
c.464C>T (p.Ala155Val)
n.677+1985C>T
n.2043C>T
c.2078C>T (p.Ala693Val)
c.1907C>T (p.Ala636Val)
c.1559C>T (p.Ala520Val)
gnomAD v3 gnomAD v4
2g.1496025A=CA1233577869TPOc.2043A= (p.Ala681=)
c.1524A= (p.Ala508=)
c.1872A= (p.Ala624=)
c.1830A= (p.Ala610=)
c.467A=
n.424+1986A=
c.465A= (p.Ala155=)
n.677+1986A=
n.2044A=
c.2079A= (p.Ala693=)
c.1908A= (p.Ala636=)
c.1560A= (p.Ala520=)
2g.1496025A>CCA1511944TPOc.2043A>C (p.Ala681=)
c.1524A>C (p.Ala508=)
c.1872A>C (p.Ala624=)
c.1830A>C (p.Ala610=)
c.467A>C
n.424+1986A>C
c.465A>C (p.Ala155=)
n.677+1986A>C
n.2044A>C
c.2079A>C (p.Ala693=)
c.1908A>C (p.Ala636=)
c.1560A>C (p.Ala520=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.1496025A>GCA424756821TPOc.2043A>G (p.Ala681=)
c.1524A>G (p.Ala508=)
c.1872A>G (p.Ala624=)
c.1830A>G (p.Ala610=)
c.467A>G
n.424+1986A>G
c.465A>G (p.Ala155=)
n.677+1986A>G
n.2044A>G
c.2079A>G (p.Ala693=)
c.1908A>G (p.Ala636=)
c.1560A>G (p.Ala520=)
2g.1496025A>TCA424756823TPOc.2043A>T (p.Ala681=)
c.1524A>T (p.Ala508=)
c.1872A>T (p.Ala624=)
c.1830A>T (p.Ala610=)
c.467A>T
n.424+1986A>T
c.465A>T (p.Ala155=)
n.677+1986A>T
n.2044A>T
c.2079A>T (p.Ala693=)
c.1908A>T (p.Ala636=)
c.1560A>T (p.Ala520=)
gnomAD v4
2g.1496026C>ACA345697743TPOc.2044C>A (p.Gln682Lys)
c.1525C>A (p.Gln509Lys)
c.1873C>A (p.Gln625Lys)
c.1831C>A (p.Gln611Lys)
c.468C>A
n.424+1987C>A
c.466C>A (p.Gln156Lys)
n.677+1987C>A
n.2045C>A
c.2080C>A (p.Gln694Lys)
c.1909C>A (p.Gln637Lys)
c.1561C>A (p.Gln521Lys)
2g.1496026C=CA1233577870TPOc.2044C= (p.Gln682=)
c.1525C= (p.Gln509=)
c.1873C= (p.Gln625=)
c.1831C= (p.Gln611=)
c.468C=
n.424+1987C=
c.466C= (p.Gln156=)
n.677+1987C=
n.2045C=
c.2080C= (p.Gln694=)
c.1909C= (p.Gln637=)
c.1561C= (p.Gln521=)
2g.1496026C>GCA345697746TPOc.2044C>G (p.Gln682Glu)
c.1525C>G (p.Gln509Glu)
c.1873C>G (p.Gln625Glu)
c.1831C>G (p.Gln611Glu)
c.468C>G
n.424+1987C>G
c.466C>G (p.Gln156Glu)
n.677+1987C>G
n.2045C>G
c.2080C>G (p.Gln694Glu)
c.1909C>G (p.Gln637Glu)
c.1561C>G (p.Gln521Glu)
2g.1496026C>TCA345697748TPOc.2044C>T (p.Gln682Ter)
c.1525C>T (p.Gln509Ter)
c.1873C>T (p.Gln625Ter)
c.1831C>T (p.Gln611Ter)
c.468C>T
n.424+1987C>T
c.466C>T (p.Gln156Ter)
n.677+1987C>T
n.2045C>T
c.2080C>T (p.Gln694Ter)
c.1909C>T (p.Gln637Ter)
c.1561C>T (p.Gln521Ter)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.1496027A=CA1233577871TPOc.2045A= (p.Gln682=)
c.1526A= (p.Gln509=)
c.1874A= (p.Gln625=)
c.1832A= (p.Gln611=)
c.469A=
n.424+1988A=
c.467A= (p.Gln156=)
n.677+1988A=
n.2046A=
c.2081A= (p.Gln694=)
c.1910A= (p.Gln637=)
c.1562A= (p.Gln521=)
2g.1496027A>CCA345697751TPOc.2045A>C (p.Gln682Pro)
c.1526A>C (p.Gln509Pro)
c.1874A>C (p.Gln625Pro)
c.1832A>C (p.Gln611Pro)
c.469A>C
n.424+1988A>C
c.467A>C (p.Gln156Pro)
n.677+1988A>C
n.2046A>C
c.2081A>C (p.Gln694Pro)
c.1910A>C (p.Gln637Pro)
c.1562A>C (p.Gln521Pro)
2g.1496027A>GCA41426854TPOc.2045A>G (p.Gln682Arg)
c.1526A>G (p.Gln509Arg)
c.1874A>G (p.Gln625Arg)
c.1832A>G (p.Gln611Arg)
c.469A>G
n.424+1988A>G
c.467A>G (p.Gln156Arg)
n.677+1988A>G
n.2046A>G
c.2081A>G (p.Gln694Arg)
c.1910A>G (p.Gln637Arg)
c.1562A>G (p.Gln521Arg)
dbSNP gnomAD v3 gnomAD v4
2g.1496027A>TCA345697758TPOc.2045A>T (p.Gln682Leu)
c.1526A>T (p.Gln509Leu)
c.1874A>T (p.Gln625Leu)
c.1832A>T (p.Gln611Leu)
c.469A>T
n.424+1988A>T
c.467A>T (p.Gln156Leu)
n.677+1988A>T
n.2046A>T
c.2081A>T (p.Gln694Leu)
c.1910A>T (p.Gln637Leu)
c.1562A>T (p.Gln521Leu)
2g.1496028G>ACA1511945TPOc.2046G>A (p.Gln682=)
c.1527G>A (p.Gln509=)
c.1875G>A (p.Gln625=)
c.1833G>A (p.Gln611=)
c.470G>A
n.424+1989G>A
c.468G>A (p.Gln156=)
n.677+1989G>A
n.2047G>A
c.2082G>A (p.Gln694=)
c.1911G>A (p.Gln637=)
c.1563G>A (p.Gln521=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496028G>CCA345697759TPOc.2046G>C (p.Gln682His)
c.1527G>C (p.Gln509His)
c.1875G>C (p.Gln625His)
c.1833G>C (p.Gln611His)
c.470G>C
n.424+1989G>C
c.468G>C (p.Gln156His)
n.677+1989G>C
n.2047G>C
c.2082G>C (p.Gln694His)
c.1911G>C (p.Gln637His)
c.1563G>C (p.Gln521His)
2g.1496028G=CA1233577872TPOc.2046G= (p.Gln682=)
c.1527G= (p.Gln509=)
c.1875G= (p.Gln625=)
c.1833G= (p.Gln611=)
c.470G=
n.424+1989G=
c.468G= (p.Gln156=)
n.677+1989G=
n.2047G=
c.2082G= (p.Gln694=)
c.1911G= (p.Gln637=)
c.1563G= (p.Gln521=)
2g.1496028G>TCA345697760TPOc.2046G>T (p.Gln682His)
c.1527G>T (p.Gln509His)
c.1875G>T (p.Gln625His)
c.1833G>T (p.Gln611His)
c.470G>T
n.424+1989G>T
c.468G>T (p.Gln156His)
n.677+1989G>T
n.2047G>T
c.2082G>T (p.Gln694His)
c.1911G>T (p.Gln637His)
c.1563G>T (p.Gln521His)
2g.1496029A>CCA424756831TPOc.2047A>C (p.Arg683=)
c.1528A>C (p.Arg510=)
c.1876A>C (p.Arg626=)
c.1834A>C (p.Arg612=)
c.471A>C
n.424+1990A>C
c.469A>C (p.Arg157=)
n.677+1990A>C
n.2048A>C
c.2083A>C (p.Arg695=)
c.1912A>C (p.Arg638=)
c.1564A>C (p.Arg522=)
2g.1496029A>GCA345697761TPOc.2047A>G (p.Arg683Gly)
c.1528A>G (p.Arg510Gly)
c.1876A>G (p.Arg626Gly)
c.1834A>G (p.Arg612Gly)
c.471A>G
n.424+1990A>G
c.469A>G (p.Arg157Gly)
n.677+1990A>G
n.2048A>G
c.2083A>G (p.Arg695Gly)
c.1912A>G (p.Arg638Gly)
c.1564A>G (p.Arg522Gly)
2g.1496029A>TCA345697763TPOc.2047A>T (p.Arg683Trp)
c.1528A>T (p.Arg510Trp)
c.1876A>T (p.Arg626Trp)
c.1834A>T (p.Arg612Trp)
c.471A>T
n.424+1990A>T
c.469A>T (p.Arg157Trp)
n.677+1990A>T
n.2048A>T
c.2083A>T (p.Arg695Trp)
c.1912A>T (p.Arg638Trp)
c.1564A>T (p.Arg522Trp)
2g.1496030G>ACA345697766TPOc.2048G>A (p.Arg683Lys)
c.1529G>A (p.Arg510Lys)
c.1877G>A (p.Arg626Lys)
c.1835G>A (p.Arg612Lys)
c.472G>A
n.424+1991G>A
c.470G>A (p.Arg157Lys)
n.677+1991G>A
n.2049G>A
c.2084G>A (p.Arg695Lys)
c.1913G>A (p.Arg638Lys)
c.1565G>A (p.Arg522Lys)
2g.1496030G>CCA345697767TPOc.2048G>C (p.Arg683Thr)
c.1529G>C (p.Arg510Thr)
c.1877G>C (p.Arg626Thr)
c.1835G>C (p.Arg612Thr)
c.472G>C
n.424+1991G>C
c.470G>C (p.Arg157Thr)
n.677+1991G>C
n.2049G>C
c.2084G>C (p.Arg695Thr)
c.1913G>C (p.Arg638Thr)
c.1565G>C (p.Arg522Thr)
2g.1496030G>TCA345697769TPOc.2048G>T (p.Arg683Met)
c.1529G>T (p.Arg510Met)
c.1877G>T (p.Arg626Met)
c.1835G>T (p.Arg612Met)
c.472G>T
n.424+1991G>T
c.470G>T (p.Arg157Met)
n.677+1991G>T
n.2049G>T
c.2084G>T (p.Arg695Met)
c.1913G>T (p.Arg638Met)
c.1565G>T (p.Arg522Met)
gnomAD v4
2g.1496031G>ACA424756837TPOc.2049G>A (p.Arg683=)
c.1530G>A (p.Arg510=)
c.1878G>A (p.Arg626=)
c.1836G>A (p.Arg612=)
c.473G>A
n.424+1992G>A
c.471G>A (p.Arg157=)
n.677+1992G>A
n.2050G>A
c.2085G>A (p.Arg695=)
c.1914G>A (p.Arg638=)
c.1566G>A (p.Arg522=)
2g.1496031G>CCA345697772TPOc.2049G>C (p.Arg683Ser)
c.1530G>C (p.Arg510Ser)
c.1878G>C (p.Arg626Ser)
c.1836G>C (p.Arg612Ser)
c.473G>C
n.424+1992G>C
c.471G>C (p.Arg157Ser)
n.677+1992G>C
n.2050G>C
c.2085G>C (p.Arg695Ser)
c.1914G>C (p.Arg638Ser)
c.1566G>C (p.Arg522Ser)
gnomAD v4
2g.1496031G>TCA345697773TPOc.2049G>T (p.Arg683Ser)
c.1530G>T (p.Arg510Ser)
c.1878G>T (p.Arg626Ser)
c.1836G>T (p.Arg612Ser)
c.473G>T
n.424+1992G>T
c.471G>T (p.Arg157Ser)
n.677+1992G>T
n.2050G>T
c.2085G>T (p.Arg695Ser)
c.1914G>T (p.Arg638Ser)
c.1566G>T (p.Arg522Ser)
2g.1496032C>ACA345697775TPOc.2050C>A (p.Arg684Ser)
c.1531C>A (p.Arg511Ser)
c.1879C>A (p.Arg627Ser)
c.1837C>A (p.Arg613Ser)
c.474C>A
n.424+1993C>A
c.472C>A (p.Arg158Ser)
n.677+1993C>A
n.2051C>A
c.2086C>A (p.Arg696Ser)
c.1915C>A (p.Arg639Ser)
c.1567C>A (p.Arg523Ser)
2g.1496032C=CA1233577873TPOc.2050C= (p.Arg684=)
c.1531C= (p.Arg511=)
c.1879C= (p.Arg627=)
c.1837C= (p.Arg613=)
c.474C=
n.424+1993C=
c.472C= (p.Arg158=)
n.677+1993C=
n.2051C=
c.2086C= (p.Arg696=)
c.1915C= (p.Arg639=)
c.1567C= (p.Arg523=)
2g.1496032C>GCA345697777TPOc.2050C>G (p.Arg684Gly)
c.1531C>G (p.Arg511Gly)
c.1879C>G (p.Arg627Gly)
c.1837C>G (p.Arg613Gly)
c.474C>G
n.424+1993C>G
c.472C>G (p.Arg158Gly)
n.677+1993C>G
n.2051C>G
c.2086C>G (p.Arg696Gly)
c.1915C>G (p.Arg639Gly)
c.1567C>G (p.Arg523Gly)
2g.1496032C>TCA1511946TPOc.2050C>T (p.Arg684Cys)
c.1531C>T (p.Arg511Cys)
c.1879C>T (p.Arg627Cys)
c.1837C>T (p.Arg613Cys)
c.474C>T
n.424+1993C>T
c.472C>T (p.Arg158Cys)
n.677+1993C>T
n.2051C>T
c.2086C>T (p.Arg696Cys)
c.1915C>T (p.Arg639Cys)
c.1567C>T (p.Arg523Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.1496033G>ACA1511947TPOc.2051G>A (p.Arg684His)
c.1532G>A (p.Arg511His)
c.1880G>A (p.Arg627His)
c.1838G>A (p.Arg613His)
c.475G>A
n.424+1994G>A
c.473G>A (p.Arg158His)
n.677+1994G>A
n.2052G>A
c.2087G>A (p.Arg696His)
c.1916G>A (p.Arg639His)
c.1568G>A (p.Arg523His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496033G>CCA345697781TPOc.2051G>C (p.Arg684Pro)
c.1532G>C (p.Arg511Pro)
c.1880G>C (p.Arg627Pro)
c.1838G>C (p.Arg613Pro)
c.475G>C
n.424+1994G>C
c.473G>C (p.Arg158Pro)
n.677+1994G>C
n.2052G>C
c.2087G>C (p.Arg696Pro)
c.1916G>C (p.Arg639Pro)
c.1568G>C (p.Arg523Pro)
2g.1496033G=CA1233577874TPOc.2051G= (p.Arg684=)
c.1532G= (p.Arg511=)
c.1880G= (p.Arg627=)
c.1838G= (p.Arg613=)
c.475G=
n.424+1994G=
c.473G= (p.Arg158=)
n.677+1994G=
n.2052G=
c.2087G= (p.Arg696=)
c.1916G= (p.Arg639=)
c.1568G= (p.Arg523=)
2g.1496033G>TCA345697783TPOc.2051G>T (p.Arg684Leu)
c.1532G>T (p.Arg511Leu)
c.1880G>T (p.Arg627Leu)
c.1838G>T (p.Arg613Leu)
c.475G>T
n.424+1994G>T
c.473G>T (p.Arg158Leu)
n.677+1994G>T
n.2052G>T
c.2087G>T (p.Arg696Leu)
c.1916G>T (p.Arg639Leu)
c.1568G>T (p.Arg523Leu)
2g.1496034T>ACA424756840TPOc.2052T>A (p.Arg684=)
c.1533T>A (p.Arg511=)
c.1881T>A (p.Arg627=)
c.1839T>A (p.Arg613=)
c.476T>A
n.424+1995T>A
c.474T>A (p.Arg158=)
n.677+1995T>A
n.2053T>A
c.2088T>A (p.Arg696=)
c.1917T>A (p.Arg639=)
c.1569T>A (p.Arg523=)
gnomAD v4
2g.1496034T>CCA41426871TPOc.2052T>C (p.Arg684=)
c.1533T>C (p.Arg511=)
c.1881T>C (p.Arg627=)
c.1839T>C (p.Arg613=)
c.476T>C
n.424+1995T>C
c.474T>C (p.Arg158=)
n.677+1995T>C
n.2053T>C
c.2088T>C (p.Arg696=)
c.1917T>C (p.Arg639=)
c.1569T>C (p.Arg523=)
ClinVar dbSNP
2g.1496034T>GCA424756841TPOc.2052T>G (p.Arg684=)
c.1533T>G (p.Arg511=)
c.1881T>G (p.Arg627=)
c.1839T>G (p.Arg613=)
c.476T>G
n.424+1995T>G
c.474T>G (p.Arg158=)
n.677+1995T>G
n.2053T>G
c.2088T>G (p.Arg696=)
c.1917T>G (p.Arg639=)
c.1569T>G (p.Arg523=)
2g.1496034T=CA1233577875TPOc.2052T= (p.Arg684=)
c.1533T= (p.Arg511=)
c.1881T= (p.Arg627=)
c.1839T= (p.Arg613=)
c.476T=
n.424+1995T=
c.474T= (p.Arg158=)
n.677+1995T=
n.2053T=
c.2088T= (p.Arg696=)
c.1917T= (p.Arg639=)
c.1569T= (p.Arg523=)
2g.1496035G>ACA345697787TPOc.2053G>A (p.Glu685Lys)
c.1534G>A (p.Glu512Lys)
c.1882G>A (p.Glu628Lys)
c.1840G>A (p.Glu614Lys)
c.477G>A
n.424+1996G>A
c.475G>A (p.Glu159Lys)
n.677+1996G>A
n.2054G>A
c.2089G>A (p.Glu697Lys)
c.1918G>A (p.Glu640Lys)
c.1570G>A (p.Glu524Lys)
dbSNP gnomAD v4
2g.1496035G>CCA345697794TPOc.2053G>C (p.Glu685Gln)
c.1534G>C (p.Glu512Gln)
c.1882G>C (p.Glu628Gln)
c.1840G>C (p.Glu614Gln)
c.477G>C
n.424+1996G>C
c.475G>C (p.Glu159Gln)
n.677+1996G>C
n.2054G>C
c.2089G>C (p.Glu697Gln)
c.1918G>C (p.Glu640Gln)
c.1570G>C (p.Glu524Gln)
2g.1496035G=CA1233577876TPOc.2053G= (p.Glu685=)
c.1534G= (p.Glu512=)
c.1882G= (p.Glu628=)
c.1840G= (p.Glu614=)
c.477G=
n.424+1996G=
c.475G= (p.Glu159=)
n.677+1996G=
n.2054G=
c.2089G= (p.Glu697=)
c.1918G= (p.Glu640=)
c.1570G= (p.Glu524=)
2g.1496035G>TCA345697785TPOc.2053G>T (p.Glu685Ter)
c.1534G>T (p.Glu512Ter)
c.1882G>T (p.Glu628Ter)
c.1840G>T (p.Glu614Ter)
c.477G>T
n.424+1996G>T
c.475G>T (p.Glu159Ter)
n.677+1996G>T
n.2054G>T
c.2089G>T (p.Glu697Ter)
c.1918G>T (p.Glu640Ter)
c.1570G>T (p.Glu524Ter)
2g.1496036A>CCA345697797TPOc.2054A>C (p.Glu685Ala)
c.1535A>C (p.Glu512Ala)
c.1883A>C (p.Glu628Ala)
c.1841A>C (p.Glu614Ala)
c.478A>C
n.424+1997A>C
c.476A>C (p.Glu159Ala)
n.677+1997A>C
n.2055A>C
c.2090A>C (p.Glu697Ala)
c.1919A>C (p.Glu640Ala)
c.1571A>C (p.Glu524Ala)
gnomAD v4
2g.1496036A>GCA345697799TPOc.2054A>G (p.Glu685Gly)
c.1535A>G (p.Glu512Gly)
c.1883A>G (p.Glu628Gly)
c.1841A>G (p.Glu614Gly)
c.478A>G
n.424+1997A>G
c.476A>G (p.Glu159Gly)
n.677+1997A>G
n.2055A>G
c.2090A>G (p.Glu697Gly)
c.1919A>G (p.Glu640Gly)
c.1571A>G (p.Glu524Gly)
2g.1496036A>TCA345697801TPOc.2054A>T (p.Glu685Val)
c.1535A>T (p.Glu512Val)
c.1883A>T (p.Glu628Val)
c.1841A>T (p.Glu614Val)
c.478A>T
n.424+1997A>T
c.476A>T (p.Glu159Val)
n.677+1997A>T
n.2055A>T
c.2090A>T (p.Glu697Val)
c.1919A>T (p.Glu640Val)
c.1571A>T (p.Glu524Val)
2g.1496037G>ACA424756845TPOc.2055G>A (p.Glu685=)
c.1536G>A (p.Glu512=)
c.1884G>A (p.Glu628=)
c.1842G>A (p.Glu614=)
c.479G>A
n.424+1998G>A
c.477G>A (p.Glu159=)
n.677+1998G>A
n.2056G>A
c.2091G>A (p.Glu697=)
c.1920G>A (p.Glu640=)
c.1572G>A (p.Glu524=)
2g.1496037G>CCA345697803TPOc.2055G>C (p.Glu685Asp)
c.1536G>C (p.Glu512Asp)
c.1884G>C (p.Glu628Asp)
c.1842G>C (p.Glu614Asp)
c.479G>C
n.424+1998G>C
c.477G>C (p.Glu159Asp)
n.677+1998G>C
n.2056G>C
c.2091G>C (p.Glu697Asp)
c.1920G>C (p.Glu640Asp)
c.1572G>C (p.Glu524Asp)
2g.1496037G>TCA345697807TPOc.2055G>T (p.Glu685Asp)
c.1536G>T (p.Glu512Asp)
c.1884G>T (p.Glu628Asp)
c.1842G>T (p.Glu614Asp)
c.479G>T
n.424+1998G>T
c.477G>T (p.Glu159Asp)
n.677+1998G>T
n.2056G>T
c.2091G>T (p.Glu697Asp)
c.1920G>T (p.Glu640Asp)
c.1572G>T (p.Glu524Asp)
2g.1496038C>ACA345697810TPOc.2056C>A (p.Leu686Met)
c.1537C>A (p.Leu513Met)
c.1885C>A (p.Leu629Met)
c.1843C>A (p.Leu615Met)
c.480C>A
n.424+1999C>A
c.478C>A (p.Leu160Met)
n.677+1999C>A
n.2057C>A
c.2092C>A (p.Leu698Met)
c.1921C>A (p.Leu641Met)
c.1573C>A (p.Leu525Met)
2g.1496038C>GCA345697812TPOc.2056C>G (p.Leu686Val)
c.1537C>G (p.Leu513Val)
c.1885C>G (p.Leu629Val)
c.1843C>G (p.Leu615Val)
c.480C>G
n.424+1999C>G
c.478C>G (p.Leu160Val)
n.677+1999C>G
n.2057C>G
c.2092C>G (p.Leu698Val)
c.1921C>G (p.Leu641Val)
c.1573C>G (p.Leu525Val)
2g.1496038C>TCA424756847TPOc.2056C>T (p.Leu686=)
c.1537C>T (p.Leu513=)
c.1885C>T (p.Leu629=)
c.1843C>T (p.Leu615=)
c.480C>T
n.424+1999C>T
c.478C>T (p.Leu160=)
n.677+1999C>T
n.2057C>T
c.2092C>T (p.Leu698=)
c.1921C>T (p.Leu641=)
c.1573C>T (p.Leu525=)
2g.1496039T>ACA345697815TPOc.2057T>A (p.Leu686Gln)
c.1538T>A (p.Leu513Gln)
c.1886T>A (p.Leu629Gln)
c.1844T>A (p.Leu615Gln)
c.481T>A
n.424+2000T>A
c.479T>A (p.Leu160Gln)
n.677+2000T>A
n.2058T>A
c.2093T>A (p.Leu698Gln)
c.1922T>A (p.Leu641Gln)
c.1574T>A (p.Leu525Gln)
2g.1496039T>CCA345697817TPOc.2057T>C (p.Leu686Pro)
c.1538T>C (p.Leu513Pro)
c.1886T>C (p.Leu629Pro)
c.1844T>C (p.Leu615Pro)
c.481T>C
n.424+2000T>C
c.479T>C (p.Leu160Pro)
n.677+2000T>C
n.2058T>C
c.2093T>C (p.Leu698Pro)
c.1922T>C (p.Leu641Pro)
c.1574T>C (p.Leu525Pro)
COSMIC
2g.1496039T>GCA345697820TPOc.2057T>G (p.Leu686Arg)
c.1538T>G (p.Leu513Arg)
c.1886T>G (p.Leu629Arg)
c.1844T>G (p.Leu615Arg)
c.481T>G
n.424+2000T>G
c.479T>G (p.Leu160Arg)
n.677+2000T>G
n.2058T>G
c.2093T>G (p.Leu698Arg)
c.1922T>G (p.Leu641Arg)
c.1574T>G (p.Leu525Arg)
2g.1496040G>ACA424756849TPOc.2058G>A (p.Leu686=)
c.1539G>A (p.Leu513=)
c.1887G>A (p.Leu629=)
c.1845G>A (p.Leu615=)
c.482G>A
n.424+2001G>A
c.480G>A (p.Leu160=)
n.677+2001G>A
n.2059G>A
c.2094G>A (p.Leu698=)
c.1923G>A (p.Leu641=)
c.1575G>A (p.Leu525=)
gnomAD v4
2g.1496040G>CCA424756850TPOc.2058G>C (p.Leu686=)
c.1539G>C (p.Leu513=)
c.1887G>C (p.Leu629=)
c.1845G>C (p.Leu615=)
c.482G>C
n.424+2001G>C
c.480G>C (p.Leu160=)
n.677+2001G>C
n.2059G>C
c.2094G>C (p.Leu698=)
c.1923G>C (p.Leu641=)
c.1575G>C (p.Leu525=)
2g.1496040G>TCA424756853TPOc.2058G>T (p.Leu686=)
c.1539G>T (p.Leu513=)
c.1887G>T (p.Leu629=)
c.1845G>T (p.Leu615=)
c.482G>T
n.424+2001G>T
c.480G>T (p.Leu160=)
n.677+2001G>T
n.2059G>T
c.2094G>T (p.Leu698=)
c.1923G>T (p.Leu641=)
c.1575G>T (p.Leu525=)
2g.1496041G>ACA345697823TPOc.2059G>A (p.Glu687Lys)
c.1540G>A (p.Glu514Lys)
c.1888G>A (p.Glu630Lys)
c.1846G>A (p.Glu616Lys)
c.483G>A
n.424+2002G>A
c.481G>A (p.Glu161Lys)
n.677+2002G>A
n.2060G>A
c.2095G>A (p.Glu699Lys)
c.1924G>A (p.Glu642Lys)
c.1576G>A (p.Glu526Lys)
2g.1496041G>CCA345697824TPOc.2059G>C (p.Glu687Gln)
c.1540G>C (p.Glu514Gln)
c.1888G>C (p.Glu630Gln)
c.1846G>C (p.Glu616Gln)
c.483G>C
n.424+2002G>C
c.481G>C (p.Glu161Gln)
n.677+2002G>C
n.2060G>C
c.2095G>C (p.Glu699Gln)
c.1924G>C (p.Glu642Gln)
c.1576G>C (p.Glu526Gln)
COSMIC COSMIC
2g.1496041G>TCA345697826TPOc.2059G>T (p.Glu687Ter)
c.1540G>T (p.Glu514Ter)
c.1888G>T (p.Glu630Ter)
c.1846G>T (p.Glu616Ter)
c.483G>T
n.424+2002G>T
c.481G>T (p.Glu161Ter)
n.677+2002G>T
n.2060G>T
c.2095G>T (p.Glu699Ter)
c.1924G>T (p.Glu642Ter)
c.1576G>T (p.Glu526Ter)
ClinVar gnomAD v4 COSMIC COSMIC
2g.1496042A>CCA345697833TPOc.2060A>C (p.Glu687Ala)
c.1541A>C (p.Glu514Ala)
c.1889A>C (p.Glu630Ala)
c.1847A>C (p.Glu616Ala)
c.484A>C
n.424+2003A>C
c.482A>C (p.Glu161Ala)
n.677+2003A>C
n.2061A>C
c.2096A>C (p.Glu699Ala)
c.1925A>C (p.Glu642Ala)
c.1577A>C (p.Glu526Ala)
2g.1496042A>GCA345697831TPOc.2060A>G (p.Glu687Gly)
c.1541A>G (p.Glu514Gly)
c.1889A>G (p.Glu630Gly)
c.1847A>G (p.Glu616Gly)
c.484A>G
n.424+2003A>G
c.482A>G (p.Glu161Gly)
n.677+2003A>G
n.2061A>G
c.2096A>G (p.Glu699Gly)
c.1925A>G (p.Glu642Gly)
c.1577A>G (p.Glu526Gly)
2g.1496042A>TCA345697829TPOc.2060A>T (p.Glu687Val)
c.1541A>T (p.Glu514Val)
c.1889A>T (p.Glu630Val)
c.1847A>T (p.Glu616Val)
c.484A>T
n.424+2003A>T
c.482A>T (p.Glu161Val)
n.677+2003A>T
n.2061A>T
c.2096A>T (p.Glu699Val)
c.1925A>T (p.Glu642Val)
c.1577A>T (p.Glu526Val)
2g.1496043G>ACA424756856TPOc.2061G>A (p.Glu687=)
c.1542G>A (p.Glu514=)
c.1890G>A (p.Glu630=)
c.1848G>A (p.Glu616=)
c.485G>A
n.424+2004G>A
c.483G>A (p.Glu161=)
n.677+2004G>A
n.2062G>A
c.2097G>A (p.Glu699=)
c.1926G>A (p.Glu642=)
c.1578G>A (p.Glu526=)
gnomAD v4
2g.1496043G>CCA345697835TPOc.2061G>C (p.Glu687Asp)
c.1542G>C (p.Glu514Asp)
c.1890G>C (p.Glu630Asp)
c.1848G>C (p.Glu616Asp)
c.485G>C
n.424+2004G>C
c.483G>C (p.Glu161Asp)
n.677+2004G>C
n.2062G>C
c.2097G>C (p.Glu699Asp)
c.1926G>C (p.Glu642Asp)
c.1578G>C (p.Glu526Asp)
2g.1496043G>TCA345697836TPOc.2061G>T (p.Glu687Asp)
c.1542G>T (p.Glu514Asp)
c.1890G>T (p.Glu630Asp)
c.1848G>T (p.Glu616Asp)
c.485G>T
n.424+2004G>T
c.483G>T (p.Glu161Asp)
n.677+2004G>T
n.2062G>T
c.2097G>T (p.Glu699Asp)
c.1926G>T (p.Glu642Asp)
c.1578G>T (p.Glu526Asp)
2g.1496044A>CCA345697839TPOc.2062A>C (p.Lys688Gln)
c.1543A>C (p.Lys515Gln)
c.1891A>C (p.Lys631Gln)
c.1849A>C (p.Lys617Gln)
c.486A>C
n.424+2005A>C
c.484A>C (p.Lys162Gln)
n.677+2005A>C
n.2063A>C
c.2098A>C (p.Lys700Gln)
c.1927A>C (p.Lys643Gln)
c.1579A>C (p.Lys527Gln)
2g.1496044A>GCA345697841TPOc.2062A>G (p.Lys688Glu)
c.1543A>G (p.Lys515Glu)
c.1891A>G (p.Lys631Glu)
c.1849A>G (p.Lys617Glu)
c.486A>G
n.424+2005A>G
c.484A>G (p.Lys162Glu)
n.677+2005A>G
n.2063A>G
c.2098A>G (p.Lys700Glu)
c.1927A>G (p.Lys643Glu)
c.1579A>G (p.Lys527Glu)
2g.1496044A>TCA345697842TPOc.2062A>T (p.Lys688Ter)
c.1543A>T (p.Lys515Ter)
c.1891A>T (p.Lys631Ter)
c.1849A>T (p.Lys617Ter)
c.486A>T
n.424+2005A>T
c.484A>T (p.Lys162Ter)
n.677+2005A>T
n.2063A>T
c.2098A>T (p.Lys700Ter)
c.1927A>T (p.Lys643Ter)
c.1579A>T (p.Lys527Ter)
2g.1496045A>CCA345697843TPOc.2063A>C (p.Lys688Thr)
c.1544A>C (p.Lys515Thr)
c.1892A>C (p.Lys631Thr)
c.1850A>C (p.Lys617Thr)
c.487A>C
n.424+2006A>C
c.485A>C (p.Lys162Thr)
n.677+2006A>C
n.2064A>C
c.2099A>C (p.Lys700Thr)
c.1928A>C (p.Lys643Thr)
c.1580A>C (p.Lys527Thr)
2g.1496045A>GCA345697844TPOc.2063A>G (p.Lys688Arg)
c.1544A>G (p.Lys515Arg)
c.1892A>G (p.Lys631Arg)
c.1850A>G (p.Lys617Arg)
c.487A>G
n.424+2006A>G
c.485A>G (p.Lys162Arg)
n.677+2006A>G
n.2064A>G
c.2099A>G (p.Lys700Arg)
c.1928A>G (p.Lys643Arg)
c.1580A>G (p.Lys527Arg)
2g.1496045A>TCA345697846TPOc.2063A>T (p.Lys688Met)
c.1544A>T (p.Lys515Met)
c.1892A>T (p.Lys631Met)
c.1850A>T (p.Lys617Met)
c.487A>T
n.424+2006A>T
c.485A>T (p.Lys162Met)
n.677+2006A>T
n.2064A>T
c.2099A>T (p.Lys700Met)
c.1928A>T (p.Lys643Met)
c.1580A>T (p.Lys527Met)
2g.1496046G>ACA424756861TPOc.2064G>A (p.Lys688=)
c.1545G>A (p.Lys515=)
c.1893G>A (p.Lys631=)
c.1851G>A (p.Lys617=)
c.488G>A
n.424+2007G>A
c.486G>A (p.Lys162=)
n.677+2007G>A
n.2065G>A
c.2100G>A (p.Lys700=)
c.1929G>A (p.Lys643=)
c.1581G>A (p.Lys527=)
2g.1496046G>CCA345697848TPOc.2064G>C (p.Lys688Asn)
c.1545G>C (p.Lys515Asn)
c.1893G>C (p.Lys631Asn)
c.1851G>C (p.Lys617Asn)
c.488G>C
n.424+2007G>C
c.486G>C (p.Lys162Asn)
n.677+2007G>C
n.2065G>C
c.2100G>C (p.Lys700Asn)
c.1929G>C (p.Lys643Asn)
c.1581G>C (p.Lys527Asn)
gnomAD v4
2g.1496046G>TCA345697849TPOc.2064G>T (p.Lys688Asn)
c.1545G>T (p.Lys515Asn)
c.1893G>T (p.Lys631Asn)
c.1851G>T (p.Lys617Asn)
c.488G>T
n.424+2007G>T
c.486G>T (p.Lys162Asn)
n.677+2007G>T
n.2065G>T
c.2100G>T (p.Lys700Asn)
c.1929G>T (p.Lys643Asn)
c.1581G>T (p.Lys527Asn)
2g.1496047C>ACA345697850TPOc.2065C>A (p.His689Asn)
c.1546C>A (p.His516Asn)
c.1894C>A (p.His632Asn)
c.1852C>A (p.His618Asn)
c.489C>A
n.424+2008C>A
c.487C>A (p.His163Asn)
n.677+2008C>A
n.2066C>A
c.2101C>A (p.His701Asn)
c.1930C>A (p.His644Asn)
c.1582C>A (p.His528Asn)
2g.1496047C>GCA345697851TPOc.2065C>G (p.His689Asp)
c.1546C>G (p.His516Asp)
c.1894C>G (p.His632Asp)
c.1852C>G (p.His618Asp)
c.489C>G
n.424+2008C>G
c.487C>G (p.His163Asp)
n.677+2008C>G
n.2066C>G
c.2101C>G (p.His701Asp)
c.1930C>G (p.His644Asp)
c.1582C>G (p.His528Asp)
2g.1496047C>TCA345697852TPOc.2065C>T (p.His689Tyr)
c.1546C>T (p.His516Tyr)
c.1894C>T (p.His632Tyr)
c.1852C>T (p.His618Tyr)
c.489C>T
n.424+2008C>T
c.487C>T (p.His163Tyr)
n.677+2008C>T
n.2066C>T
c.2101C>T (p.His701Tyr)
c.1930C>T (p.His644Tyr)
c.1582C>T (p.His528Tyr)
2g.1496048A=CA1233577877TPOc.2066A= (p.His689=)
c.1547A= (p.His516=)
c.1895A= (p.His632=)
c.1853A= (p.His618=)
c.490A=
n.424+2009A=
c.488A= (p.His163=)
n.677+2009A=
n.2067A=
c.2102A= (p.His701=)
c.1931A= (p.His644=)
c.1583A= (p.His528=)
2g.1496048A>CCA345697855TPOc.2066A>C (p.His689Pro)
c.1547A>C (p.His516Pro)
c.1895A>C (p.His632Pro)
c.1853A>C (p.His618Pro)
c.490A>C
n.424+2009A>C
c.488A>C (p.His163Pro)
n.677+2009A>C
n.2067A>C
c.2102A>C (p.His701Pro)
c.1931A>C (p.His644Pro)
c.1583A>C (p.His528Pro)
dbSNP
2g.1496048A>GCA345697860TPOc.2066A>G (p.His689Arg)
c.1547A>G (p.His516Arg)
c.1895A>G (p.His632Arg)
c.1853A>G (p.His618Arg)
c.490A>G
n.424+2009A>G
c.488A>G (p.His163Arg)
n.677+2009A>G
n.2067A>G
c.2102A>G (p.His701Arg)
c.1931A>G (p.His644Arg)
c.1583A>G (p.His528Arg)
2g.1496048A>TCA345697858TPOc.2066A>T (p.His689Leu)
c.1547A>T (p.His516Leu)
c.1895A>T (p.His632Leu)
c.1853A>T (p.His618Leu)
c.490A>T
n.424+2009A>T
c.488A>T (p.His163Leu)
n.677+2009A>T
n.2067A>T
c.2102A>T (p.His701Leu)
c.1931A>T (p.His644Leu)
c.1583A>T (p.His528Leu)
2g.1496049C>ACA345697862TPOc.2067C>A (p.His689Gln)
c.1548C>A (p.His516Gln)
c.1896C>A (p.His632Gln)
c.1854C>A (p.His618Gln)
c.491C>A
n.424+2010C>A
c.489C>A (p.His163Gln)
n.677+2010C>A
n.2068C>A
c.2103C>A (p.His701Gln)
c.1932C>A (p.His644Gln)
c.1584C>A (p.His528Gln)
2g.1496049C>GCA345697863TPOc.2067C>G (p.His689Gln)
c.1548C>G (p.His516Gln)
c.1896C>G (p.His632Gln)
c.1854C>G (p.His618Gln)
c.491C>G
n.424+2010C>G
c.489C>G (p.His163Gln)
n.677+2010C>G
n.2068C>G
c.2103C>G (p.His701Gln)
c.1932C>G (p.His644Gln)
c.1584C>G (p.His528Gln)
2g.1496049C>TCA424756870TPOc.2067C>T (p.His689=)
c.1548C>T (p.His516=)
c.1896C>T (p.His632=)
c.1854C>T (p.His618=)
c.491C>T
n.424+2010C>T
c.489C>T (p.His163=)
n.677+2010C>T
n.2068C>T
c.2103C>T (p.His701=)
c.1932C>T (p.His644=)
c.1584C>T (p.His528=)
2g.1496050T>ACA345697865TPOc.2068T>A (p.Ser690Thr)
c.1549T>A (p.Ser517Thr)
c.1897T>A (p.Ser633Thr)
c.1855T>A (p.Ser619Thr)
c.492T>A
n.424+2011T>A
c.490T>A (p.Ser164Thr)
n.677+2011T>A
n.2069T>A
c.2104T>A (p.Ser702Thr)
c.1933T>A (p.Ser645Thr)
c.1585T>A (p.Ser529Thr)
2g.1496050T>CCA345697867TPOc.2068T>C (p.Ser690Pro)
c.1549T>C (p.Ser517Pro)
c.1897T>C (p.Ser633Pro)
c.1855T>C (p.Ser619Pro)
c.492T>C
n.424+2011T>C
c.490T>C (p.Ser164Pro)
n.677+2011T>C
n.2069T>C
c.2104T>C (p.Ser702Pro)
c.1933T>C (p.Ser645Pro)
c.1585T>C (p.Ser529Pro)
2g.1496050T>GCA345697869TPOc.2068T>G (p.Ser690Ala)
c.1549T>G (p.Ser517Ala)
c.1897T>G (p.Ser633Ala)
c.1855T>G (p.Ser619Ala)
c.492T>G
n.424+2011T>G
c.490T>G (p.Ser164Ala)
n.677+2011T>G
n.2069T>G
c.2104T>G (p.Ser702Ala)
c.1933T>G (p.Ser645Ala)
c.1585T>G (p.Ser529Ala)
2g.1496051C>ACA345697871TPOc.2069C>A (p.Ser690Tyr)
c.1550C>A (p.Ser517Tyr)
c.1898C>A (p.Ser633Tyr)
c.1856C>A (p.Ser619Tyr)
c.493C>A
n.424+2012C>A
c.491C>A (p.Ser164Tyr)
n.677+2012C>A
n.2070C>A
c.2105C>A (p.Ser702Tyr)
c.1934C>A (p.Ser645Tyr)
c.1586C>A (p.Ser529Tyr)
2g.1496051C>GCA345697873TPOc.2069C>G (p.Ser690Cys)
c.1550C>G (p.Ser517Cys)
c.1898C>G (p.Ser633Cys)
c.1856C>G (p.Ser619Cys)
c.493C>G
n.424+2012C>G
c.491C>G (p.Ser164Cys)
n.677+2012C>G
n.2070C>G
c.2105C>G (p.Ser702Cys)
c.1934C>G (p.Ser645Cys)
c.1586C>G (p.Ser529Cys)
2g.1496051C>TCA345697874TPOc.2069C>T (p.Ser690Phe)
c.1550C>T (p.Ser517Phe)
c.1898C>T (p.Ser633Phe)
c.1856C>T (p.Ser619Phe)
c.493C>T
n.424+2012C>T
c.491C>T (p.Ser164Phe)
n.677+2012C>T
n.2070C>T
c.2105C>T (p.Ser702Phe)
c.1934C>T (p.Ser645Phe)
c.1586C>T (p.Ser529Phe)
COSMIC
2g.1496052C>ACA424756876TPOc.2070C>A (p.Ser690=)
c.1551C>A (p.Ser517=)
c.1899C>A (p.Ser633=)
c.1857C>A (p.Ser619=)
c.494C>A
n.424+2013C>A
c.492C>A (p.Ser164=)
n.677+2013C>A
n.2071C>A
c.2106C>A (p.Ser702=)
c.1935C>A (p.Ser645=)
c.1587C>A (p.Ser529=)
COSMIC COSMIC
2g.1496052C>GCA424756878TPOc.2070C>G (p.Ser690=)
c.1551C>G (p.Ser517=)
c.1899C>G (p.Ser633=)
c.1857C>G (p.Ser619=)
c.494C>G
n.424+2013C>G
c.492C>G (p.Ser164=)
n.677+2013C>G
n.2071C>G
c.2106C>G (p.Ser702=)
c.1935C>G (p.Ser645=)
c.1587C>G (p.Ser529=)
2g.1496052C>TCA424756880TPOc.2070C>T (p.Ser690=)
c.1551C>T (p.Ser517=)
c.1899C>T (p.Ser633=)
c.1857C>T (p.Ser619=)
c.494C>T
n.424+2013C>T
c.492C>T (p.Ser164=)
n.677+2013C>T
n.2071C>T
c.2106C>T (p.Ser702=)
c.1935C>T (p.Ser645=)
c.1587C>T (p.Ser529=)
gnomAD v4
2g.1496052_1496054delinsCCTCA1233577878TPOc.2070_2072delinsCCT (p.Ser690=)
c.1551_1553delinsCCT (p.Ser517=)
c.1899_1901delinsCCT (p.Ser633=)
c.1857_1859delinsCCT (p.Ser619=)
c.494_496delinsCCT
n.424+2013_424+2015delinsCCT
c.492_494delinsCCT (p.Ser164=)
n.677+2013_677+2015delinsCCT
n.2071_2073delinsCCT
c.2106_2108delinsCCT (p.Ser702=)
c.1935_1937delinsCCT (p.Ser645=)
c.1587_1589delinsCCT (p.Ser529=)
2g.1496053C>ACA345697879TPOc.2071C>A (p.Leu691Met)
c.1552C>A (p.Leu518Met)
c.1900C>A (p.Leu634Met)
c.1858C>A (p.Leu620Met)
c.495C>A
n.424+2014C>A
c.493C>A (p.Leu165Met)
n.677+2014C>A
n.2072C>A
c.2107C>A (p.Leu703Met)
c.1936C>A (p.Leu646Met)
c.1588C>A (p.Leu530Met)
COSMIC COSMIC
2g.1496053C=CA1233577880TPOc.2071C= (p.Leu691=)
c.1552C= (p.Leu518=)
c.1900C= (p.Leu634=)
c.1858C= (p.Leu620=)
c.495C=
n.424+2014C=
c.493C= (p.Leu165=)
n.677+2014C=
n.2072C=
c.2107C= (p.Leu703=)
c.1936C= (p.Leu646=)
c.1588C= (p.Leu530=)
2g.1496053C>GCA1511948TPOc.2071C>G (p.Leu691Val)
c.1552C>G (p.Leu518Val)
c.1900C>G (p.Leu634Val)
c.1858C>G (p.Leu620Val)
c.495C>G
n.424+2014C>G
c.493C>G (p.Leu165Val)
n.677+2014C>G
n.2072C>G
c.2107C>G (p.Leu703Val)
c.1936C>G (p.Leu646Val)
c.1588C>G (p.Leu530Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496053C>TCA1511949TPOc.2071C>T (p.Leu691=)
c.1552C>T (p.Leu518=)
c.1900C>T (p.Leu634=)
c.1858C>T (p.Leu620=)
c.495C>T
n.424+2014C>T
c.493C>T (p.Leu165=)
n.677+2014C>T
n.2072C>T
c.2107C>T (p.Leu703=)
c.1936C>T (p.Leu646=)
c.1588C>T (p.Leu530=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.1496053_1496054delCA1233577879TPOc.2071_2072del (p.Leu691ValfsTer6)
c.1552_1553del (p.Leu518ValfsTer6)
c.1900_1901del (p.Leu634ValfsTer6)
c.1858_1859del (p.Leu620ValfsTer6)
c.495_496del
n.424+2014_424+2015del
c.493_494del (p.Leu165ValfsTer6)
n.677+2014_677+2015del
n.2072_2073del
c.2107_2108del (p.Leu703ValfsTer6)
c.1936_1937del (p.Leu646ValfsTer6)
c.1588_1589del (p.Leu530ValfsTer6)
dbSNP gnomAD v4
2g.1496054T>ACA345697881TPOc.2072T>A (p.Leu691Gln)
c.1553T>A (p.Leu518Gln)
c.1901T>A (p.Leu634Gln)
c.1859T>A (p.Leu620Gln)
c.496T>A
n.424+2015T>A
c.494T>A (p.Leu165Gln)
n.677+2015T>A
n.2073T>A
c.2108T>A (p.Leu703Gln)
c.1937T>A (p.Leu646Gln)
c.1589T>A (p.Leu530Gln)
gnomAD v4
2g.1496054T>CCA345697882TPOc.2072T>C (p.Leu691Pro)
c.1553T>C (p.Leu518Pro)
c.1901T>C (p.Leu634Pro)
c.1859T>C (p.Leu620Pro)
c.496T>C
n.424+2015T>C
c.494T>C (p.Leu165Pro)
n.677+2015T>C
n.2073T>C
c.2108T>C (p.Leu703Pro)
c.1937T>C (p.Leu646Pro)
c.1589T>C (p.Leu530Pro)
COSMIC COSMIC
2g.1496054T>GCA345697883TPOc.2072T>G (p.Leu691Arg)
c.1553T>G (p.Leu518Arg)
c.1901T>G (p.Leu634Arg)
c.1859T>G (p.Leu620Arg)
c.496T>G
n.424+2015T>G
c.494T>G (p.Leu165Arg)
n.677+2015T>G
n.2073T>G
c.2108T>G (p.Leu703Arg)
c.1937T>G (p.Leu646Arg)
c.1589T>G (p.Leu530Arg)
2g.1496055G>ACA424756885TPOc.2073G>A (p.Leu691=)
c.1554G>A (p.Leu518=)
c.1902G>A (p.Leu634=)
c.1860G>A (p.Leu620=)
c.497G>A
n.424+2016G>A
c.495G>A (p.Leu165=)
n.677+2016G>A
n.2074G>A
c.2109G>A (p.Leu703=)
c.1938G>A (p.Leu646=)
c.1590G>A (p.Leu530=)
gnomAD v4
2g.1496055G>CCA424756886TPOc.2073G>C (p.Leu691=)
c.1554G>C (p.Leu518=)
c.1902G>C (p.Leu634=)
c.1860G>C (p.Leu620=)
c.497G>C
n.424+2016G>C
c.495G>C (p.Leu165=)
n.677+2016G>C
n.2074G>C
c.2109G>C (p.Leu703=)
c.1938G>C (p.Leu646=)
c.1590G>C (p.Leu530=)
2g.1496055G>TCA424756889TPOc.2073G>T (p.Leu691=)
c.1554G>T (p.Leu518=)
c.1902G>T (p.Leu634=)
c.1860G>T (p.Leu620=)
c.497G>T
n.424+2016G>T
c.495G>T (p.Leu165=)
n.677+2016G>T
n.2074G>T
c.2109G>T (p.Leu703=)
c.1938G>T (p.Leu646=)
c.1590G>T (p.Leu530=)
2g.1496056T>ACA345697884TPOc.2074T>A (p.Ser692Thr)
c.1555T>A (p.Ser519Thr)
c.1903T>A (p.Ser635Thr)
c.1861T>A (p.Ser621Thr)
c.498T>A
n.424+2017T>A
c.496T>A (p.Ser166Thr)
n.677+2017T>A
n.2075T>A
c.2110T>A (p.Ser704Thr)
c.1939T>A (p.Ser647Thr)
c.1591T>A (p.Ser531Thr)
2g.1496056T>CCA345697886TPOc.2074T>C (p.Ser692Pro)
c.1555T>C (p.Ser519Pro)
c.1903T>C (p.Ser635Pro)
c.1861T>C (p.Ser621Pro)
c.498T>C
n.424+2017T>C
c.496T>C (p.Ser166Pro)
n.677+2017T>C
n.2075T>C
c.2110T>C (p.Ser704Pro)
c.1939T>C (p.Ser647Pro)
c.1591T>C (p.Ser531Pro)
2g.1496056T>GCA345697887TPOc.2074T>G (p.Ser692Ala)
c.1555T>G (p.Ser519Ala)
c.1903T>G (p.Ser635Ala)
c.1861T>G (p.Ser621Ala)
c.498T>G
n.424+2017T>G
c.496T>G (p.Ser166Ala)
n.677+2017T>G
n.2075T>G
c.2110T>G (p.Ser704Ala)
c.1939T>G (p.Ser647Ala)
c.1591T>G (p.Ser531Ala)
2g.1496057C>ACA345697889TPOc.2075C>A (p.Ser692Tyr)
c.1556C>A (p.Ser519Tyr)
c.1904C>A (p.Ser635Tyr)
c.1862C>A (p.Ser621Tyr)
c.499C>A
n.424+2018C>A
c.497C>A (p.Ser166Tyr)
n.677+2018C>A
n.2076C>A
c.2111C>A (p.Ser704Tyr)
c.1940C>A (p.Ser647Tyr)
c.1592C>A (p.Ser531Tyr)
2g.1496057C>GCA345697893TPOc.2075C>G (p.Ser692Cys)
c.1556C>G (p.Ser519Cys)
c.1904C>G (p.Ser635Cys)
c.1862C>G (p.Ser621Cys)
c.499C>G
n.424+2018C>G
c.497C>G (p.Ser166Cys)
n.677+2018C>G
n.2076C>G
c.2111C>G (p.Ser704Cys)
c.1940C>G (p.Ser647Cys)
c.1592C>G (p.Ser531Cys)
2g.1496057C>TCA345697891TPOc.2075C>T (p.Ser692Phe)
c.1556C>T (p.Ser519Phe)
c.1904C>T (p.Ser635Phe)
c.1862C>T (p.Ser621Phe)
c.499C>T
n.424+2018C>T
c.497C>T (p.Ser166Phe)
n.677+2018C>T
n.2076C>T
c.2111C>T (p.Ser704Phe)
c.1940C>T (p.Ser647Phe)
c.1592C>T (p.Ser531Phe)
2g.1496058T>ACA424756893TPOc.2076T>A (p.Ser692=)
c.1557T>A (p.Ser519=)
c.1905T>A (p.Ser635=)
c.1863T>A (p.Ser621=)
c.500T>A
n.424+2019T>A
c.498T>A (p.Ser166=)
n.677+2019T>A
n.2077T>A
c.2112T>A (p.Ser704=)
c.1941T>A (p.Ser647=)
c.1593T>A (p.Ser531=)
2g.1496058T>CCA424756894TPOc.2076T>C (p.Ser692=)
c.1557T>C (p.Ser519=)
c.1905T>C (p.Ser635=)
c.1863T>C (p.Ser621=)
c.500T>C
n.424+2019T>C
c.498T>C (p.Ser166=)
n.677+2019T>C
n.2077T>C
c.2112T>C (p.Ser704=)
c.1941T>C (p.Ser647=)
c.1593T>C (p.Ser531=)
2g.1496058T>GCA424756895TPOc.2076T>G (p.Ser692=)
c.1557T>G (p.Ser519=)
c.1905T>G (p.Ser635=)
c.1863T>G (p.Ser621=)
c.500T>G
n.424+2019T>G
c.498T>G (p.Ser166=)
n.677+2019T>G
n.2077T>G
c.2112T>G (p.Ser704=)
c.1941T>G (p.Ser647=)
c.1593T>G (p.Ser531=)
2g.1496059C>ACA424756896TPOc.2077C>A (p.Arg693=)
c.1558C>A (p.Arg520=)
c.1906C>A (p.Arg636=)
c.1864C>A (p.Arg622=)
c.501C>A
n.424+2020C>A
c.499C>A (p.Arg167=)
n.677+2020C>A
n.2078C>A
c.2113C>A (p.Arg705=)
c.1942C>A (p.Arg648=)
c.1594C>A (p.Arg532=)
COSMIC
2g.1496059C=CA1233577881TPOc.2077C= (p.Arg693=)
c.1558C= (p.Arg520=)
c.1906C= (p.Arg636=)
c.1864C= (p.Arg622=)
c.501C=
n.424+2020C=
c.499C= (p.Arg167=)
n.677+2020C=
n.2078C=
c.2113C= (p.Arg705=)
c.1942C= (p.Arg648=)
c.1594C= (p.Arg532=)
2g.1496059C>GCA345697895TPOc.2077C>G (p.Arg693Gly)
c.1558C>G (p.Arg520Gly)
c.1906C>G (p.Arg636Gly)
c.1864C>G (p.Arg622Gly)
c.501C>G
n.424+2020C>G
c.499C>G (p.Arg167Gly)
n.677+2020C>G
n.2078C>G
c.2113C>G (p.Arg705Gly)
c.1942C>G (p.Arg648Gly)
c.1594C>G (p.Arg532Gly)
2g.1496059C>TCA116634TPOc.2077C>T (p.Arg693Trp)
c.1558C>T (p.Arg520Trp)
c.1906C>T (p.Arg636Trp)
c.1864C>T (p.Arg622Trp)
c.501C>T
n.424+2020C>T
c.499C>T (p.Arg167Trp)
n.677+2020C>T
n.2078C>T
c.2113C>T (p.Arg705Trp)
c.1942C>T (p.Arg648Trp)
c.1594C>T (p.Arg532Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched