Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.50242250G>ACA2628396172HDCc.*10C>T (n.*10C>T)
n.1743C>T
gnomAD v4
15g.50242251G>ACA2176326508HDCc.*9C>T (n.*9C>T)
n.1742C>T
dbSNP
15g.50242251G=CA2176326507HDCc.*9C= (n.*9C=)
n.1742C=
15g.50242251G>TCA2628396174HDCc.*9C>A (n.*9C>A)
n.1742C>A
gnomAD v4
15g.50242251_50242252delinsGCCA2176326506HDCc.*8_*9delinsGC (n.*8_*9delinsGC)
n.1741_1742delinsGC
15g.50242254delCA2176326509HDCc.*8del (n.*8del)
n.1741del
dbSNP gnomAD v4
15g.50242253C>ACA2575721864HDCc.*7G>T (n.*7G>T)
n.1740G>T
15g.50242253C=CA2176326510HDCc.*7G= (n.*7G=)
n.1740G=
15g.50242253C>TCA7554456HDCc.*7G>A (n.*7G>A)
n.1740G>A
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242254C=CA2176326511HDCc.*6G= (n.*6G=)
n.1739G=
15g.50242254C>GCA617860197HDCc.*6G>C (n.*6G>C)
n.1739G>C
dbSNP gnomAD v2 gnomAD v4
15g.50242254C>TCA2176326512HDCc.*6G>A (n.*6G>A)
n.1739G>A
dbSNP gnomAD v4
15g.50242255T>CCA7554457HDCc.*5A>G (n.*5A>G)
n.1738A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242255T=CA2176326513HDCc.*5A= (n.*5A=)
n.1738A=
15g.50242256G>ACA2628396177HDCc.*4C>T (n.*4C>T)
n.1737C>T
gnomAD v4
15g.50242256G>TCA2575721865HDCc.*4C>A (n.*4C>A)
n.1737C>A
15g.50242257T>ACA2581216875HDCc.*3A>T (n.*3A>T)
n.1736A>T
15g.50242257T>CCA2581216876HDCc.*3A>G (n.*3A>G)
n.1736A>G
gnomAD v4
15g.50242257T>GCA7554458HDCc.*3A>C (n.*3A>C)
n.1736A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242257T=CA2176326514HDCc.*3A= (n.*3A=)
n.1736A=
15g.50242258G>CCA2575721866HDCc.*2C>G (n.*2C>G)
n.1735C>G
gnomAD v4
15g.50242260C>ACA392376379HDCc.1989G>T (p.Ter663Tyr)
c.1890G>T (p.Ter630Tyr)
n.1733G>T
c.1752G>T (p.Ter584Tyr)
c.1557G>T (p.Ter519Tyr)
c.2094G>T (p.Ter698Tyr)
c.1995G>T (p.Ter665Tyr)
c.1866G>T (p.Ter622Tyr)
c.1857G>T (p.Ter619Tyr)
c.1662G>T (p.Ter554Tyr)
dbSNP gnomAD v2 gnomAD v4
15g.50242260C=CA2176326515HDCc.1989G= (p.Ter663=)
c.1890G= (p.Ter630=)
n.1733G=
c.1752G= (p.Ter584=)
c.1557G= (p.Ter519=)
c.2094G= (p.Ter698=)
c.1995G= (p.Ter665=)
c.1866G= (p.Ter622=)
c.1857G= (p.Ter619=)
c.1662G= (p.Ter554=)
15g.50242260C>GCA392376380HDCc.1989G>C (p.Ter663Tyr)
c.1890G>C (p.Ter630Tyr)
n.1733G>C
c.1752G>C (p.Ter584Tyr)
c.1557G>C (p.Ter519Tyr)
c.2094G>C (p.Ter698Tyr)
c.1995G>C (p.Ter665Tyr)
c.1866G>C (p.Ter622Tyr)
c.1857G>C (p.Ter619Tyr)
c.1662G>C (p.Ter554Tyr)
15g.50242260C>TCA490064093HDCc.1989G>A (p.Ter663=)
c.1890G>A (p.Ter630=)
n.1733G>A
c.1752G>A (p.Ter584=)
c.1557G>A (p.Ter519=)
c.2094G>A (p.Ter698=)
c.1995G>A (p.Ter665=)
c.1866G>A (p.Ter622=)
c.1857G>A (p.Ter619=)
c.1662G>A (p.Ter554=)
15g.50242261T>ACA392376381HDCc.1988A>T (p.Ter663Leu)
c.1889A>T (p.Ter630Leu)
n.1732A>T
c.1751A>T (p.Ter584Leu)
c.1556A>T (p.Ter519Leu)
c.2093A>T (p.Ter698Leu)
c.1994A>T (p.Ter665Leu)
c.1865A>T (p.Ter622Leu)
c.1856A>T (p.Ter619Leu)
c.1661A>T (p.Ter554Leu)
15g.50242261T>CCA392376382HDCc.1988A>G (p.Ter663Trp)
c.1889A>G (p.Ter630Trp)
n.1732A>G
c.1751A>G (p.Ter584Trp)
c.1556A>G (p.Ter519Trp)
c.2093A>G (p.Ter698Trp)
c.1994A>G (p.Ter665Trp)
c.1865A>G (p.Ter622Trp)
c.1856A>G (p.Ter619Trp)
c.1661A>G (p.Ter554Trp)
15g.50242261T>GCA392376383HDCc.1988A>C (p.Ter663Ser)
c.1889A>C (p.Ter630Ser)
n.1732A>C
c.1751A>C (p.Ter584Ser)
c.1556A>C (p.Ter519Ser)
c.2093A>C (p.Ter698Ser)
c.1994A>C (p.Ter665Ser)
c.1865A>C (p.Ter622Ser)
c.1856A>C (p.Ter619Ser)
c.1661A>C (p.Ter554Ser)
15g.50242262A>CCA392376385HDCc.1987T>G (p.Ter663Glu)
c.1888T>G (p.Ter630Glu)
n.1731T>G
c.1750T>G (p.Ter584Glu)
c.1555T>G (p.Ter519Glu)
c.2092T>G (p.Ter698Glu)
c.1993T>G (p.Ter665Glu)
c.1864T>G (p.Ter622Glu)
c.1855T>G (p.Ter619Glu)
c.1660T>G (p.Ter554Glu)
15g.50242262A>GCA392376386HDCc.1987T>C (p.Ter663Gln)
c.1888T>C (p.Ter630Gln)
n.1731T>C
c.1750T>C (p.Ter584Gln)
c.1555T>C (p.Ter519Gln)
c.2092T>C (p.Ter698Gln)
c.1993T>C (p.Ter665Gln)
c.1864T>C (p.Ter622Gln)
c.1855T>C (p.Ter619Gln)
c.1660T>C (p.Ter554Gln)
15g.50242262A>TCA392376384HDCc.1987T>A (p.Ter663Lys)
c.1888T>A (p.Ter630Lys)
n.1731T>A
c.1750T>A (p.Ter584Lys)
c.1555T>A (p.Ter519Lys)
c.2092T>A (p.Ter698Lys)
c.1993T>A (p.Ter665Lys)
c.1864T>A (p.Ter622Lys)
c.1855T>A (p.Ter619Lys)
c.1660T>A (p.Ter554Lys)
15g.50242264delCA2575721867HDCc.1987del (p.Ter663ArgextTer?)
c.1888del (p.Ter630ArgextTer?)
n.1731del
c.1750del (p.Ter584ArgextTer?)
c.1555del (p.Ter519ArgextTer?)
c.2092del (p.Ter698ArgextTer?)
c.1993del (p.Ter665ArgextTer?)
c.1864del (p.Ter622ArgextTer?)
c.1855del (p.Ter619ArgextTer?)
c.1660del (p.Ter554ArgextTer?)
15g.50242263A>CCA490064094HDCc.1986T>G (p.Val662=)
c.1887T>G (p.Val629=)
n.1730T>G
c.1749T>G (p.Val583=)
c.1554T>G (p.Val518=)
c.2091T>G (p.Val697=)
c.1992T>G (p.Val664=)
c.1863T>G (p.Val621=)
c.1854T>G (p.Val618=)
c.1659T>G (p.Val553=)
15g.50242263A>GCA490064095HDCc.1986T>C (p.Val662=)
c.1887T>C (p.Val629=)
n.1730T>C
c.1749T>C (p.Val583=)
c.1554T>C (p.Val518=)
c.2091T>C (p.Val697=)
c.1992T>C (p.Val664=)
c.1863T>C (p.Val621=)
c.1854T>C (p.Val618=)
c.1659T>C (p.Val553=)
15g.50242263A>TCA490064096HDCc.1986T>A (p.Val662=)
c.1887T>A (p.Val629=)
n.1730T>A
c.1749T>A (p.Val583=)
c.1554T>A (p.Val518=)
c.2091T>A (p.Val697=)
c.1992T>A (p.Val664=)
c.1863T>A (p.Val621=)
c.1854T>A (p.Val618=)
c.1659T>A (p.Val553=)
15g.50242264A=CA2176326516HDCc.1985T= (p.Val662=)
c.1886T= (p.Val629=)
n.1729T=
c.1748T= (p.Val583=)
c.1553T= (p.Val518=)
c.2090T= (p.Val697=)
c.1991T= (p.Val664=)
c.1862T= (p.Val621=)
c.1853T= (p.Val618=)
c.1658T= (p.Val553=)
15g.50242264A>CCA7554459HDCc.1985T>G (p.Val662Gly)
c.1886T>G (p.Val629Gly)
n.1729T>G
c.1748T>G (p.Val583Gly)
c.1553T>G (p.Val518Gly)
c.2090T>G (p.Val697Gly)
c.1991T>G (p.Val664Gly)
c.1862T>G (p.Val621Gly)
c.1853T>G (p.Val618Gly)
c.1658T>G (p.Val553Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242264A>GCA392376387HDCc.1985T>C (p.Val662Ala)
c.1886T>C (p.Val629Ala)
n.1729T>C
c.1748T>C (p.Val583Ala)
c.1553T>C (p.Val518Ala)
c.2090T>C (p.Val697Ala)
c.1991T>C (p.Val664Ala)
c.1862T>C (p.Val621Ala)
c.1853T>C (p.Val618Ala)
c.1658T>C (p.Val553Ala)
15g.50242264A>TCA392376388HDCc.1985T>A (p.Val662Asp)
c.1886T>A (p.Val629Asp)
n.1729T>A
c.1748T>A (p.Val583Asp)
c.1553T>A (p.Val518Asp)
c.2090T>A (p.Val697Asp)
c.1991T>A (p.Val664Asp)
c.1862T>A (p.Val621Asp)
c.1853T>A (p.Val618Asp)
c.1658T>A (p.Val553Asp)
15g.50242265C>ACA392376389HDCc.1984G>T (p.Val662Phe)
c.1885G>T (p.Val629Phe)
n.1728G>T
c.1747G>T (p.Val583Phe)
c.1552G>T (p.Val518Phe)
c.2089G>T (p.Val697Phe)
c.1990G>T (p.Val664Phe)
c.1861G>T (p.Val621Phe)
c.1852G>T (p.Val618Phe)
c.1657G>T (p.Val553Phe)
gnomAD v4
15g.50242265C=CA2176326517HDCc.1984G= (p.Val662=)
c.1885G= (p.Val629=)
n.1728G=
c.1747G= (p.Val583=)
c.1552G= (p.Val518=)
c.2089G= (p.Val697=)
c.1990G= (p.Val664=)
c.1861G= (p.Val621=)
c.1852G= (p.Val618=)
c.1657G= (p.Val553=)
15g.50242265C>GCA392376390HDCc.1984G>C (p.Val662Leu)
c.1885G>C (p.Val629Leu)
n.1728G>C
c.1747G>C (p.Val583Leu)
c.1552G>C (p.Val518Leu)
c.2089G>C (p.Val697Leu)
c.1990G>C (p.Val664Leu)
c.1861G>C (p.Val621Leu)
c.1852G>C (p.Val618Leu)
c.1657G>C (p.Val553Leu)
15g.50242265C>TCA392376391HDCc.1984G>A (p.Val662Ile)
c.1885G>A (p.Val629Ile)
n.1728G>A
c.1747G>A (p.Val583Ile)
c.1552G>A (p.Val518Ile)
c.2089G>A (p.Val697Ile)
c.1990G>A (p.Val664Ile)
c.1861G>A (p.Val621Ile)
c.1852G>A (p.Val618Ile)
c.1657G>A (p.Val553Ile)
dbSNP gnomAD v2 gnomAD v4
15g.50242266C>ACA392376392HDCc.1983G>T (p.Met661Ile)
c.1884G>T (p.Met628Ile)
n.1727G>T
c.1746G>T (p.Met582Ile)
c.1551G>T (p.Met517Ile)
c.2088G>T (p.Met696Ile)
c.1989G>T (p.Met663Ile)
c.1860G>T (p.Met620Ile)
c.1851G>T (p.Met617Ile)
c.1656G>T (p.Met552Ile)
15g.50242266C>GCA392376393HDCc.1983G>C (p.Met661Ile)
c.1884G>C (p.Met628Ile)
n.1727G>C
c.1746G>C (p.Met582Ile)
c.1551G>C (p.Met517Ile)
c.2088G>C (p.Met696Ile)
c.1989G>C (p.Met663Ile)
c.1860G>C (p.Met620Ile)
c.1851G>C (p.Met617Ile)
c.1656G>C (p.Met552Ile)
15g.50242266C>TCA392376394HDCc.1983G>A (p.Met661Ile)
c.1884G>A (p.Met628Ile)
n.1727G>A
c.1746G>A (p.Met582Ile)
c.1551G>A (p.Met517Ile)
c.2088G>A (p.Met696Ile)
c.1989G>A (p.Met663Ile)
c.1860G>A (p.Met620Ile)
c.1851G>A (p.Met617Ile)
c.1656G>A (p.Met552Ile)
15g.50242267A=CA2176326518HDCc.1982T= (p.Met661=)
c.1883T= (p.Met628=)
n.1726T=
c.1745T= (p.Met582=)
c.1550T= (p.Met517=)
c.2087T= (p.Met696=)
c.1988T= (p.Met663=)
c.1859T= (p.Met620=)
c.1850T= (p.Met617=)
c.1655T= (p.Met552=)
15g.50242267A>CCA392376395HDCc.1982T>G (p.Met661Arg)
c.1883T>G (p.Met628Arg)
n.1726T>G
c.1745T>G (p.Met582Arg)
c.1550T>G (p.Met517Arg)
c.2087T>G (p.Met696Arg)
c.1988T>G (p.Met663Arg)
c.1859T>G (p.Met620Arg)
c.1850T>G (p.Met617Arg)
c.1655T>G (p.Met552Arg)
15g.50242267A>GCA392376396HDCc.1982T>C (p.Met661Thr)
c.1883T>C (p.Met628Thr)
n.1726T>C
c.1745T>C (p.Met582Thr)
c.1550T>C (p.Met517Thr)
c.2087T>C (p.Met696Thr)
c.1988T>C (p.Met663Thr)
c.1859T>C (p.Met620Thr)
c.1850T>C (p.Met617Thr)
c.1655T>C (p.Met552Thr)
dbSNP gnomAD v2 gnomAD v4
15g.50242267A>TCA392376397HDCc.1982T>A (p.Met661Lys)
c.1883T>A (p.Met628Lys)
n.1726T>A
c.1745T>A (p.Met582Lys)
c.1550T>A (p.Met517Lys)
c.2087T>A (p.Met696Lys)
c.1988T>A (p.Met663Lys)
c.1859T>A (p.Met620Lys)
c.1850T>A (p.Met617Lys)
c.1655T>A (p.Met552Lys)
15g.50242268T>ACA392376398HDCc.1981A>T (p.Met661Leu)
c.1882A>T (p.Met628Leu)
n.1725A>T
c.1744A>T (p.Met582Leu)
c.1549A>T (p.Met517Leu)
c.2086A>T (p.Met696Leu)
c.1987A>T (p.Met663Leu)
c.1858A>T (p.Met620Leu)
c.1849A>T (p.Met617Leu)
c.1654A>T (p.Met552Leu)
15g.50242268T>CCA392376399HDCc.1981A>G (p.Met661Val)
c.1882A>G (p.Met628Val)
n.1725A>G
c.1744A>G (p.Met582Val)
c.1549A>G (p.Met517Val)
c.2086A>G (p.Met696Val)
c.1987A>G (p.Met663Val)
c.1858A>G (p.Met620Val)
c.1849A>G (p.Met617Val)
c.1654A>G (p.Met552Val)
dbSNP
15g.50242268T>GCA392376400HDCc.1981A>C (p.Met661Leu)
c.1882A>C (p.Met628Leu)
n.1725A>C
c.1744A>C (p.Met582Leu)
c.1549A>C (p.Met517Leu)
c.2086A>C (p.Met696Leu)
c.1987A>C (p.Met663Leu)
c.1858A>C (p.Met620Leu)
c.1849A>C (p.Met617Leu)
c.1654A>C (p.Met552Leu)
15g.50242268T=CA2176326519HDCc.1981A= (p.Met661=)
c.1882A= (p.Met628=)
n.1725A=
c.1744A= (p.Met582=)
c.1549A= (p.Met517=)
c.2086A= (p.Met696=)
c.1987A= (p.Met663=)
c.1858A= (p.Met620=)
c.1849A= (p.Met617=)
c.1654A= (p.Met552=)
15g.50242269G>ACA490064097HDCc.1980C>T (p.Ala660=)
c.1881C>T (p.Ala627=)
n.1724C>T
c.1743C>T (p.Ala581=)
c.1548C>T (p.Ala516=)
c.2085C>T (p.Ala695=)
c.1986C>T (p.Ala662=)
c.1857C>T (p.Ala619=)
c.1848C>T (p.Ala616=)
c.1653C>T (p.Ala551=)
15g.50242269G>CCA490064098HDCc.1980C>G (p.Ala660=)
c.1881C>G (p.Ala627=)
n.1724C>G
c.1743C>G (p.Ala581=)
c.1548C>G (p.Ala516=)
c.2085C>G (p.Ala695=)
c.1986C>G (p.Ala662=)
c.1857C>G (p.Ala619=)
c.1848C>G (p.Ala616=)
c.1653C>G (p.Ala551=)
15g.50242269G>TCA490064099HDCc.1980C>A (p.Ala660=)
c.1881C>A (p.Ala627=)
n.1724C>A
c.1743C>A (p.Ala581=)
c.1548C>A (p.Ala516=)
c.2085C>A (p.Ala695=)
c.1986C>A (p.Ala662=)
c.1857C>A (p.Ala619=)
c.1848C>A (p.Ala616=)
c.1653C>A (p.Ala551=)
15g.50242270G>ACA392376403HDCc.1979C>T (p.Ala660Val)
c.1880C>T (p.Ala627Val)
n.1723C>T
c.1742C>T (p.Ala581Val)
c.1547C>T (p.Ala516Val)
c.2084C>T (p.Ala695Val)
c.1985C>T (p.Ala662Val)
c.1856C>T (p.Ala619Val)
c.1847C>T (p.Ala616Val)
c.1652C>T (p.Ala551Val)
15g.50242270G>CCA392376401HDCc.1979C>G (p.Ala660Gly)
c.1880C>G (p.Ala627Gly)
n.1723C>G
c.1742C>G (p.Ala581Gly)
c.1547C>G (p.Ala516Gly)
c.2084C>G (p.Ala695Gly)
c.1985C>G (p.Ala662Gly)
c.1856C>G (p.Ala619Gly)
c.1847C>G (p.Ala616Gly)
c.1652C>G (p.Ala551Gly)
15g.50242270G>TCA392376402HDCc.1979C>A (p.Ala660Asp)
c.1880C>A (p.Ala627Asp)
n.1723C>A
c.1742C>A (p.Ala581Asp)
c.1547C>A (p.Ala516Asp)
c.2084C>A (p.Ala695Asp)
c.1985C>A (p.Ala662Asp)
c.1856C>A (p.Ala619Asp)
c.1847C>A (p.Ala616Asp)
c.1652C>A (p.Ala551Asp)
15g.50242271C>ACA392376404HDCc.1978G>T (p.Ala660Ser)
c.1879G>T (p.Ala627Ser)
n.1722G>T
c.1741G>T (p.Ala581Ser)
c.1546G>T (p.Ala516Ser)
c.2083G>T (p.Ala695Ser)
c.1984G>T (p.Ala662Ser)
c.1855G>T (p.Ala619Ser)
c.1846G>T (p.Ala616Ser)
c.1651G>T (p.Ala551Ser)
15g.50242271C=CA2176326520HDCc.1978G= (p.Ala660=)
c.1879G= (p.Ala627=)
n.1722G=
c.1741G= (p.Ala581=)
c.1546G= (p.Ala516=)
c.2083G= (p.Ala695=)
c.1984G= (p.Ala662=)
c.1855G= (p.Ala619=)
c.1846G= (p.Ala616=)
c.1651G= (p.Ala551=)
15g.50242271C>GCA392376405HDCc.1978G>C (p.Ala660Pro)
c.1879G>C (p.Ala627Pro)
n.1722G>C
c.1741G>C (p.Ala581Pro)
c.1546G>C (p.Ala516Pro)
c.2083G>C (p.Ala695Pro)
c.1984G>C (p.Ala662Pro)
c.1855G>C (p.Ala619Pro)
c.1846G>C (p.Ala616Pro)
c.1651G>C (p.Ala551Pro)
15g.50242271C>TCA7554460HDCc.1978G>A (p.Ala660Thr)
c.1879G>A (p.Ala627Thr)
n.1722G>A
c.1741G>A (p.Ala581Thr)
c.1546G>A (p.Ala516Thr)
c.2083G>A (p.Ala695Thr)
c.1984G>A (p.Ala662Thr)
c.1855G>A (p.Ala619Thr)
c.1846G>A (p.Ala616Thr)
c.1651G>A (p.Ala551Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242272C>ACA392376406HDCc.1977G>T (p.Gln659His)
c.1878G>T (p.Gln626His)
n.1721G>T
c.1740G>T (p.Gln580His)
c.1545G>T (p.Gln515His)
c.2082G>T (p.Gln694His)
c.1983G>T (p.Gln661His)
c.1854G>T (p.Gln618His)
c.1845G>T (p.Gln615His)
c.1650G>T (p.Gln550His)
15g.50242272C>GCA392376407HDCc.1977G>C (p.Gln659His)
c.1878G>C (p.Gln626His)
n.1721G>C
c.1740G>C (p.Gln580His)
c.1545G>C (p.Gln515His)
c.2082G>C (p.Gln694His)
c.1983G>C (p.Gln661His)
c.1854G>C (p.Gln618His)
c.1845G>C (p.Gln615His)
c.1650G>C (p.Gln550His)
15g.50242272C>TCA490064100HDCc.1977G>A (p.Gln659=)
c.1878G>A (p.Gln626=)
n.1721G>A
c.1740G>A (p.Gln580=)
c.1545G>A (p.Gln515=)
c.2082G>A (p.Gln694=)
c.1983G>A (p.Gln661=)
c.1854G>A (p.Gln618=)
c.1845G>A (p.Gln615=)
c.1650G>A (p.Gln550=)
gnomAD v4
15g.50242273T>ACA392376408HDCc.1976A>T (p.Gln659Leu)
c.1877A>T (p.Gln626Leu)
n.1720A>T
c.1739A>T (p.Gln580Leu)
c.1544A>T (p.Gln515Leu)
c.2081A>T (p.Gln694Leu)
c.1982A>T (p.Gln661Leu)
c.1853A>T (p.Gln618Leu)
c.1844A>T (p.Gln615Leu)
c.1649A>T (p.Gln550Leu)
15g.50242273T>CCA392376409HDCc.1976A>G (p.Gln659Arg)
c.1877A>G (p.Gln626Arg)
n.1720A>G
c.1739A>G (p.Gln580Arg)
c.1544A>G (p.Gln515Arg)
c.2081A>G (p.Gln694Arg)
c.1982A>G (p.Gln661Arg)
c.1853A>G (p.Gln618Arg)
c.1844A>G (p.Gln615Arg)
c.1649A>G (p.Gln550Arg)
15g.50242273T>GCA392376410HDCc.1976A>C (p.Gln659Pro)
c.1877A>C (p.Gln626Pro)
n.1720A>C
c.1739A>C (p.Gln580Pro)
c.1544A>C (p.Gln515Pro)
c.2081A>C (p.Gln694Pro)
c.1982A>C (p.Gln661Pro)
c.1853A>C (p.Gln618Pro)
c.1844A>C (p.Gln615Pro)
c.1649A>C (p.Gln550Pro)
15g.50242274G>ACA392376411HDCc.1975C>T (p.Gln659Ter)
c.1876C>T (p.Gln626Ter)
n.1719C>T
c.1738C>T (p.Gln580Ter)
c.1543C>T (p.Gln515Ter)
c.2080C>T (p.Gln694Ter)
c.1981C>T (p.Gln661Ter)
c.1852C>T (p.Gln618Ter)
c.1843C>T (p.Gln615Ter)
c.1648C>T (p.Gln550Ter)
15g.50242274G>CCA392376412HDCc.1975C>G (p.Gln659Glu)
c.1876C>G (p.Gln626Glu)
n.1719C>G
c.1738C>G (p.Gln580Glu)
c.1543C>G (p.Gln515Glu)
c.2080C>G (p.Gln694Glu)
c.1981C>G (p.Gln661Glu)
c.1852C>G (p.Gln618Glu)
c.1843C>G (p.Gln615Glu)
c.1648C>G (p.Gln550Glu)
gnomAD v4
15g.50242274G>TCA392376413HDCc.1975C>A (p.Gln659Lys)
c.1876C>A (p.Gln626Lys)
n.1719C>A
c.1738C>A (p.Gln580Lys)
c.1543C>A (p.Gln515Lys)
c.2080C>A (p.Gln694Lys)
c.1981C>A (p.Gln661Lys)
c.1852C>A (p.Gln618Lys)
c.1843C>A (p.Gln615Lys)
c.1648C>A (p.Gln550Lys)
gnomAD v4
15g.50242275C>ACA490064101HDCc.1974G>T (p.Leu658=)
c.1875G>T (p.Leu625=)
n.1718G>T
c.1737G>T (p.Leu579=)
c.1542G>T (p.Leu514=)
c.2079G>T (p.Leu693=)
c.1980G>T (p.Leu660=)
c.1851G>T (p.Leu617=)
c.1842G>T (p.Leu614=)
c.1647G>T (p.Leu549=)
15g.50242275C>GCA490064102HDCc.1974G>C (p.Leu658=)
c.1875G>C (p.Leu625=)
n.1718G>C
c.1737G>C (p.Leu579=)
c.1542G>C (p.Leu514=)
c.2079G>C (p.Leu693=)
c.1980G>C (p.Leu660=)
c.1851G>C (p.Leu617=)
c.1842G>C (p.Leu614=)
c.1647G>C (p.Leu549=)
15g.50242275C>TCA490064103HDCc.1974G>A (p.Leu658=)
c.1875G>A (p.Leu625=)
n.1718G>A
c.1737G>A (p.Leu579=)
c.1542G>A (p.Leu514=)
c.2079G>A (p.Leu693=)
c.1980G>A (p.Leu660=)
c.1851G>A (p.Leu617=)
c.1842G>A (p.Leu614=)
c.1647G>A (p.Leu549=)
15g.50242276A>CCA392376416HDCc.1973T>G (p.Leu658Arg)
c.1874T>G (p.Leu625Arg)
n.1717T>G
c.1736T>G (p.Leu579Arg)
c.1541T>G (p.Leu514Arg)
c.2078T>G (p.Leu693Arg)
c.1979T>G (p.Leu660Arg)
c.1850T>G (p.Leu617Arg)
c.1841T>G (p.Leu614Arg)
c.1646T>G (p.Leu549Arg)
15g.50242276A>GCA392376415HDCc.1973T>C (p.Leu658Pro)
c.1874T>C (p.Leu625Pro)
n.1717T>C
c.1736T>C (p.Leu579Pro)
c.1541T>C (p.Leu514Pro)
c.2078T>C (p.Leu693Pro)
c.1979T>C (p.Leu660Pro)
c.1850T>C (p.Leu617Pro)
c.1841T>C (p.Leu614Pro)
c.1646T>C (p.Leu549Pro)
15g.50242276A>TCA392376414HDCc.1973T>A (p.Leu658Gln)
c.1874T>A (p.Leu625Gln)
n.1717T>A
c.1736T>A (p.Leu579Gln)
c.1541T>A (p.Leu514Gln)
c.2078T>A (p.Leu693Gln)
c.1979T>A (p.Leu660Gln)
c.1850T>A (p.Leu617Gln)
c.1841T>A (p.Leu614Gln)
c.1646T>A (p.Leu549Gln)
15g.50242277G>ACA490064104HDCc.1972C>T (p.Leu658=)
c.1873C>T (p.Leu625=)
n.1716C>T
c.1735C>T (p.Leu579=)
c.1540C>T (p.Leu514=)
c.2077C>T (p.Leu693=)
c.1978C>T (p.Leu660=)
c.1849C>T (p.Leu617=)
c.1840C>T (p.Leu614=)
c.1645C>T (p.Leu549=)
15g.50242277G>CCA392376417HDCc.1972C>G (p.Leu658Val)
c.1873C>G (p.Leu625Val)
n.1716C>G
c.1735C>G (p.Leu579Val)
c.1540C>G (p.Leu514Val)
c.2077C>G (p.Leu693Val)
c.1978C>G (p.Leu660Val)
c.1849C>G (p.Leu617Val)
c.1840C>G (p.Leu614Val)
c.1645C>G (p.Leu549Val)
15g.50242277G=CA2176326521HDCc.1972C= (p.Leu658=)
c.1873C= (p.Leu625=)
n.1716C=
c.1735C= (p.Leu579=)
c.1540C= (p.Leu514=)
c.2077C= (p.Leu693=)
c.1978C= (p.Leu660=)
c.1849C= (p.Leu617=)
c.1840C= (p.Leu614=)
c.1645C= (p.Leu549=)
15g.50242277G>TCA392376418HDCc.1972C>A (p.Leu658Met)
c.1873C>A (p.Leu625Met)
n.1716C>A
c.1735C>A (p.Leu579Met)
c.1540C>A (p.Leu514Met)
c.2077C>A (p.Leu693Met)
c.1978C>A (p.Leu660Met)
c.1849C>A (p.Leu617Met)
c.1840C>A (p.Leu614Met)
c.1645C>A (p.Leu549Met)
dbSNP gnomAD v2 gnomAD v4
15g.50242278A>CCA490064105HDCc.1971T>G (p.Pro657=)
c.1872T>G (p.Pro624=)
n.1715T>G
c.1734T>G (p.Pro578=)
c.1539T>G (p.Pro513=)
c.2076T>G (p.Pro692=)
c.1977T>G (p.Pro659=)
c.1848T>G (p.Pro616=)
c.1839T>G (p.Pro613=)
c.1644T>G (p.Pro548=)
15g.50242278A>GCA490064107HDCc.1971T>C (p.Pro657=)
c.1872T>C (p.Pro624=)
n.1715T>C
c.1734T>C (p.Pro578=)
c.1539T>C (p.Pro513=)
c.2076T>C (p.Pro692=)
c.1977T>C (p.Pro659=)
c.1848T>C (p.Pro616=)
c.1839T>C (p.Pro613=)
c.1644T>C (p.Pro548=)
15g.50242278A>TCA490064106HDCc.1971T>A (p.Pro657=)
c.1872T>A (p.Pro624=)
n.1715T>A
c.1734T>A (p.Pro578=)
c.1539T>A (p.Pro513=)
c.2076T>A (p.Pro692=)
c.1977T>A (p.Pro659=)
c.1848T>A (p.Pro616=)
c.1839T>A (p.Pro613=)
c.1644T>A (p.Pro548=)
gnomAD v4
15g.50242279G>ACA392376419HDCc.1970C>T (p.Pro657Leu)
c.1871C>T (p.Pro624Leu)
n.1714C>T
c.1733C>T (p.Pro578Leu)
c.1538C>T (p.Pro513Leu)
c.2075C>T (p.Pro692Leu)
c.1976C>T (p.Pro659Leu)
c.1847C>T (p.Pro616Leu)
c.1838C>T (p.Pro613Leu)
c.1643C>T (p.Pro548Leu)
gnomAD v4
15g.50242279G>CCA392376420HDCc.1970C>G (p.Pro657Arg)
c.1871C>G (p.Pro624Arg)
n.1714C>G
c.1733C>G (p.Pro578Arg)
c.1538C>G (p.Pro513Arg)
c.2075C>G (p.Pro692Arg)
c.1976C>G (p.Pro659Arg)
c.1847C>G (p.Pro616Arg)
c.1838C>G (p.Pro613Arg)
c.1643C>G (p.Pro548Arg)
15g.50242279G=CA2176326522HDCc.1970C= (p.Pro657=)
c.1871C= (p.Pro624=)
n.1714C=
c.1733C= (p.Pro578=)
c.1538C= (p.Pro513=)
c.2075C= (p.Pro692=)
c.1976C= (p.Pro659=)
c.1847C= (p.Pro616=)
c.1838C= (p.Pro613=)
c.1643C= (p.Pro548=)
15g.50242279G>TCA7554461HDCc.1970C>A (p.Pro657His)
c.1871C>A (p.Pro624His)
n.1714C>A
c.1733C>A (p.Pro578His)
c.1538C>A (p.Pro513His)
c.2075C>A (p.Pro692His)
c.1976C>A (p.Pro659His)
c.1847C>A (p.Pro616His)
c.1838C>A (p.Pro613His)
c.1643C>A (p.Pro548His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242280G>ACA392376421HDCc.1969C>T (p.Pro657Ser)
c.1870C>T (p.Pro624Ser)
n.1713C>T
c.1732C>T (p.Pro578Ser)
c.1537C>T (p.Pro513Ser)
c.2074C>T (p.Pro692Ser)
c.1975C>T (p.Pro659Ser)
c.1846C>T (p.Pro616Ser)
c.1837C>T (p.Pro613Ser)
c.1642C>T (p.Pro548Ser)
15g.50242280G>CCA392376422HDCc.1969C>G (p.Pro657Ala)
c.1870C>G (p.Pro624Ala)
n.1713C>G
c.1732C>G (p.Pro578Ala)
c.1537C>G (p.Pro513Ala)
c.2074C>G (p.Pro692Ala)
c.1975C>G (p.Pro659Ala)
c.1846C>G (p.Pro616Ala)
c.1837C>G (p.Pro613Ala)
c.1642C>G (p.Pro548Ala)
15g.50242280G>TCA392376423HDCc.1969C>A (p.Pro657Thr)
c.1870C>A (p.Pro624Thr)
n.1713C>A
c.1732C>A (p.Pro578Thr)
c.1537C>A (p.Pro513Thr)
c.2074C>A (p.Pro692Thr)
c.1975C>A (p.Pro659Thr)
c.1846C>A (p.Pro616Thr)
c.1837C>A (p.Pro613Thr)
c.1642C>A (p.Pro548Thr)
15g.50242281G>ACA490064108HDCc.1968C>T (p.Cys656=)
c.1869C>T (p.Cys623=)
n.1712C>T
c.1731C>T (p.Cys577=)
c.1536C>T (p.Cys512=)
c.2073C>T (p.Cys691=)
c.1974C>T (p.Cys658=)
c.1845C>T (p.Cys615=)
c.1836C>T (p.Cys612=)
c.1641C>T (p.Cys547=)
dbSNP gnomAD v3 gnomAD v4
15g.50242281G>CCA392376424HDCc.1968C>G (p.Cys656Trp)
c.1869C>G (p.Cys623Trp)
n.1712C>G
c.1731C>G (p.Cys577Trp)
c.1536C>G (p.Cys512Trp)
c.2073C>G (p.Cys691Trp)
c.1974C>G (p.Cys658Trp)
c.1845C>G (p.Cys615Trp)
c.1836C>G (p.Cys612Trp)
c.1641C>G (p.Cys547Trp)
15g.50242281G=CA2176326523HDCc.1968C= (p.Cys656=)
c.1869C= (p.Cys623=)
n.1712C=
c.1731C= (p.Cys577=)
c.1536C= (p.Cys512=)
c.2073C= (p.Cys691=)
c.1974C= (p.Cys658=)
c.1845C= (p.Cys615=)
c.1836C= (p.Cys612=)
c.1641C= (p.Cys547=)
15g.50242281G>TCA392376425HDCc.1968C>A (p.Cys656Ter)
c.1869C>A (p.Cys623Ter)
n.1712C>A
c.1731C>A (p.Cys577Ter)
c.1536C>A (p.Cys512Ter)
c.2073C>A (p.Cys691Ter)
c.1974C>A (p.Cys658Ter)
c.1845C>A (p.Cys615Ter)
c.1836C>A (p.Cys612Ter)
c.1641C>A (p.Cys547Ter)
15g.50242282C>ACA392376426HDCc.1967G>T (p.Cys656Phe)
c.1868G>T (p.Cys623Phe)
n.1711G>T
c.1730G>T (p.Cys577Phe)
c.1535G>T (p.Cys512Phe)
c.2072G>T (p.Cys691Phe)
c.1973G>T (p.Cys658Phe)
c.1844G>T (p.Cys615Phe)
c.1835G>T (p.Cys612Phe)
c.1640G>T (p.Cys547Phe)
15g.50242282C>GCA392376427HDCc.1967G>C (p.Cys656Ser)
c.1868G>C (p.Cys623Ser)
n.1711G>C
c.1730G>C (p.Cys577Ser)
c.1535G>C (p.Cys512Ser)
c.2072G>C (p.Cys691Ser)
c.1973G>C (p.Cys658Ser)
c.1844G>C (p.Cys615Ser)
c.1835G>C (p.Cys612Ser)
c.1640G>C (p.Cys547Ser)
15g.50242282C>TCA392376428HDCc.1967G>A (p.Cys656Tyr)
c.1868G>A (p.Cys623Tyr)
n.1711G>A
c.1730G>A (p.Cys577Tyr)
c.1535G>A (p.Cys512Tyr)
c.2072G>A (p.Cys691Tyr)
c.1973G>A (p.Cys658Tyr)
c.1844G>A (p.Cys615Tyr)
c.1835G>A (p.Cys612Tyr)
c.1640G>A (p.Cys547Tyr)
15g.50242283A=CA2176326524HDCc.1966T= (p.Cys656=)
c.1867T= (p.Cys623=)
n.1710T=
c.1729T= (p.Cys577=)
c.1534T= (p.Cys512=)
c.2071T= (p.Cys691=)
c.1972T= (p.Cys658=)
c.1843T= (p.Cys615=)
c.1834T= (p.Cys612=)
c.1639T= (p.Cys547=)
15g.50242283A>CCA392376429HDCc.1966T>G (p.Cys656Gly)
c.1867T>G (p.Cys623Gly)
n.1710T>G
c.1729T>G (p.Cys577Gly)
c.1534T>G (p.Cys512Gly)
c.2071T>G (p.Cys691Gly)
c.1972T>G (p.Cys658Gly)
c.1843T>G (p.Cys615Gly)
c.1834T>G (p.Cys612Gly)
c.1639T>G (p.Cys547Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50242283A>GCA392376431HDCc.1966T>C (p.Cys656Arg)
c.1867T>C (p.Cys623Arg)
n.1710T>C
c.1729T>C (p.Cys577Arg)
c.1534T>C (p.Cys512Arg)
c.2071T>C (p.Cys691Arg)
c.1972T>C (p.Cys658Arg)
c.1843T>C (p.Cys615Arg)
c.1834T>C (p.Cys612Arg)
c.1639T>C (p.Cys547Arg)
15g.50242283A>TCA392376430HDCc.1966T>A (p.Cys656Ser)
c.1867T>A (p.Cys623Ser)
n.1710T>A
c.1729T>A (p.Cys577Ser)
c.1534T>A (p.Cys512Ser)
c.2071T>A (p.Cys691Ser)
c.1972T>A (p.Cys658Ser)
c.1843T>A (p.Cys615Ser)
c.1834T>A (p.Cys612Ser)
c.1639T>A (p.Cys547Ser)
15g.50242284A>CCA392376432HDCc.1965T>G (p.Cys655Trp)
c.1866T>G (p.Cys622Trp)
n.1709T>G
c.1728T>G (p.Cys576Trp)
c.1533T>G (p.Cys511Trp)
c.2070T>G (p.Cys690Trp)
c.1971T>G (p.Cys657Trp)
c.1842T>G (p.Cys614Trp)
c.1833T>G (p.Cys611Trp)
c.1638T>G (p.Cys546Trp)
15g.50242284A>GCA490064109HDCc.1965T>C (p.Cys655=)
c.1866T>C (p.Cys622=)
n.1709T>C
c.1728T>C (p.Cys576=)
c.1533T>C (p.Cys511=)
c.2070T>C (p.Cys690=)
c.1971T>C (p.Cys657=)
c.1842T>C (p.Cys614=)
c.1833T>C (p.Cys611=)
c.1638T>C (p.Cys546=)
15g.50242284A>TCA392376433HDCc.1965T>A (p.Cys655Ter)
c.1866T>A (p.Cys622Ter)
n.1709T>A
c.1728T>A (p.Cys576Ter)
c.1533T>A (p.Cys511Ter)
c.2070T>A (p.Cys690Ter)
c.1971T>A (p.Cys657Ter)
c.1842T>A (p.Cys614Ter)
c.1833T>A (p.Cys611Ter)
c.1638T>A (p.Cys546Ter)
15g.50242285C>ACA392376434HDCc.1964G>T (p.Cys655Phe)
c.1865G>T (p.Cys622Phe)
n.1708G>T
c.1727G>T (p.Cys576Phe)
c.1532G>T (p.Cys511Phe)
c.2069G>T (p.Cys690Phe)
c.1970G>T (p.Cys657Phe)
c.1841G>T (p.Cys614Phe)
c.1832G>T (p.Cys611Phe)
c.1637G>T (p.Cys546Phe)
gnomAD v4
15g.50242285C=CA2176326525HDCc.1964G= (p.Cys655=)
c.1865G= (p.Cys622=)
n.1708G=
c.1727G= (p.Cys576=)
c.1532G= (p.Cys511=)
c.2069G= (p.Cys690=)
c.1970G= (p.Cys657=)
c.1841G= (p.Cys614=)
c.1832G= (p.Cys611=)
c.1637G= (p.Cys546=)
15g.50242285C>GCA392376435HDCc.1964G>C (p.Cys655Ser)
c.1865G>C (p.Cys622Ser)
n.1708G>C
c.1727G>C (p.Cys576Ser)
c.1532G>C (p.Cys511Ser)
c.2069G>C (p.Cys690Ser)
c.1970G>C (p.Cys657Ser)
c.1841G>C (p.Cys614Ser)
c.1832G>C (p.Cys611Ser)
c.1637G>C (p.Cys546Ser)
dbSNP gnomAD v2 gnomAD v4
15g.50242285C>TCA392376436HDCc.1964G>A (p.Cys655Tyr)
c.1865G>A (p.Cys622Tyr)
n.1708G>A
c.1727G>A (p.Cys576Tyr)
c.1532G>A (p.Cys511Tyr)
c.2069G>A (p.Cys690Tyr)
c.1970G>A (p.Cys657Tyr)
c.1841G>A (p.Cys614Tyr)
c.1832G>A (p.Cys611Tyr)
c.1637G>A (p.Cys546Tyr)
gnomAD v4
15g.50242286A=CA2176326526HDCc.1963T= (p.Cys655=)
c.1864T= (p.Cys622=)
n.1707T=
c.1726T= (p.Cys576=)
c.1531T= (p.Cys511=)
c.2068T= (p.Cys690=)
c.1969T= (p.Cys657=)
c.1840T= (p.Cys614=)
c.1831T= (p.Cys611=)
c.1636T= (p.Cys546=)
15g.50242286A>CCA392376437HDCc.1963T>G (p.Cys655Gly)
c.1864T>G (p.Cys622Gly)
n.1707T>G
c.1726T>G (p.Cys576Gly)
c.1531T>G (p.Cys511Gly)
c.2068T>G (p.Cys690Gly)
c.1969T>G (p.Cys657Gly)
c.1840T>G (p.Cys614Gly)
c.1831T>G (p.Cys611Gly)
c.1636T>G (p.Cys546Gly)
dbSNP gnomAD v2 gnomAD v4
15g.50242286A>GCA392376438HDCc.1963T>C (p.Cys655Arg)
c.1864T>C (p.Cys622Arg)
n.1707T>C
c.1726T>C (p.Cys576Arg)
c.1531T>C (p.Cys511Arg)
c.2068T>C (p.Cys690Arg)
c.1969T>C (p.Cys657Arg)
c.1840T>C (p.Cys614Arg)
c.1831T>C (p.Cys611Arg)
c.1636T>C (p.Cys546Arg)
15g.50242286A>TCA392376439HDCc.1963T>A (p.Cys655Ser)
c.1864T>A (p.Cys622Ser)
n.1707T>A
c.1726T>A (p.Cys576Ser)
c.1531T>A (p.Cys511Ser)
c.2068T>A (p.Cys690Ser)
c.1969T>A (p.Cys657Ser)
c.1840T>A (p.Cys614Ser)
c.1831T>A (p.Cys611Ser)
c.1636T>A (p.Cys546Ser)
15g.50242287G>ACA490064110HDCc.1962C>T (p.Pro654=)
c.1863C>T (p.Pro621=)
n.1706C>T
c.1725C>T (p.Pro575=)
c.1530C>T (p.Pro510=)
c.2067C>T (p.Pro689=)
c.1968C>T (p.Pro656=)
c.1839C>T (p.Pro613=)
c.1830C>T (p.Pro610=)
c.1635C>T (p.Pro545=)
15g.50242287G>CCA490064111HDCc.1962C>G (p.Pro654=)
c.1863C>G (p.Pro621=)
n.1706C>G
c.1725C>G (p.Pro575=)
c.1530C>G (p.Pro510=)
c.2067C>G (p.Pro689=)
c.1968C>G (p.Pro656=)
c.1839C>G (p.Pro613=)
c.1830C>G (p.Pro610=)
c.1635C>G (p.Pro545=)
15g.50242287G=CA2176326527HDCc.1962C= (p.Pro654=)
c.1863C= (p.Pro621=)
n.1706C=
c.1725C= (p.Pro575=)
c.1530C= (p.Pro510=)
c.2067C= (p.Pro689=)
c.1968C= (p.Pro656=)
c.1839C= (p.Pro613=)
c.1830C= (p.Pro610=)
c.1635C= (p.Pro545=)
15g.50242287G>TCA490064112HDCc.1962C>A (p.Pro654=)
c.1863C>A (p.Pro621=)
n.1706C>A
c.1725C>A (p.Pro575=)
c.1530C>A (p.Pro510=)
c.2067C>A (p.Pro689=)
c.1968C>A (p.Pro656=)
c.1839C>A (p.Pro613=)
c.1830C>A (p.Pro610=)
c.1635C>A (p.Pro545=)
dbSNP gnomAD v4
15g.50242288G>ACA392376440HDCc.1961C>T (p.Pro654Leu)
c.1862C>T (p.Pro621Leu)
n.1705C>T
c.1724C>T (p.Pro575Leu)
c.1529C>T (p.Pro510Leu)
c.2066C>T (p.Pro689Leu)
c.1967C>T (p.Pro656Leu)
c.1838C>T (p.Pro613Leu)
c.1829C>T (p.Pro610Leu)
c.1634C>T (p.Pro545Leu)
15g.50242288G>CCA392376441HDCc.1961C>G (p.Pro654Arg)
c.1862C>G (p.Pro621Arg)
n.1705C>G
c.1724C>G (p.Pro575Arg)
c.1529C>G (p.Pro510Arg)
c.2066C>G (p.Pro689Arg)
c.1967C>G (p.Pro656Arg)
c.1838C>G (p.Pro613Arg)
c.1829C>G (p.Pro610Arg)
c.1634C>G (p.Pro545Arg)
15g.50242288G>TCA392376442HDCc.1961C>A (p.Pro654His)
c.1862C>A (p.Pro621His)
n.1705C>A
c.1724C>A (p.Pro575His)
c.1529C>A (p.Pro510His)
c.2066C>A (p.Pro689His)
c.1967C>A (p.Pro656His)
c.1838C>A (p.Pro613His)
c.1829C>A (p.Pro610His)
c.1634C>A (p.Pro545His)
15g.50242289G>ACA392376444HDCc.1960C>T (p.Pro654Ser)
c.1861C>T (p.Pro621Ser)
n.1704C>T
c.1723C>T (p.Pro575Ser)
c.1528C>T (p.Pro510Ser)
c.2065C>T (p.Pro689Ser)
c.1966C>T (p.Pro656Ser)
c.1837C>T (p.Pro613Ser)
c.1828C>T (p.Pro610Ser)
c.1633C>T (p.Pro545Ser)
15g.50242289G>CCA392376445HDCc.1960C>G (p.Pro654Ala)
c.1861C>G (p.Pro621Ala)
n.1704C>G
c.1723C>G (p.Pro575Ala)
c.1528C>G (p.Pro510Ala)
c.2065C>G (p.Pro689Ala)
c.1966C>G (p.Pro656Ala)
c.1837C>G (p.Pro613Ala)
c.1828C>G (p.Pro610Ala)
c.1633C>G (p.Pro545Ala)
15g.50242289G>TCA392376443HDCc.1960C>A (p.Pro654Thr)
c.1861C>A (p.Pro621Thr)
n.1704C>A
c.1723C>A (p.Pro575Thr)
c.1528C>A (p.Pro510Thr)
c.2065C>A (p.Pro689Thr)
c.1966C>A (p.Pro656Thr)
c.1837C>A (p.Pro613Thr)
c.1828C>A (p.Pro610Thr)
c.1633C>A (p.Pro545Thr)
15g.50242290C>ACA490064113HDCc.1959G>T (p.Leu653=)
c.1860G>T (p.Leu620=)
n.1703G>T
c.1722G>T (p.Leu574=)
c.1527G>T (p.Leu509=)
c.2064G>T (p.Leu688=)
c.1965G>T (p.Leu655=)
c.1836G>T (p.Leu612=)
c.1827G>T (p.Leu609=)
c.1632G>T (p.Leu544=)
15g.50242290C=CA2176326528HDCc.1959G= (p.Leu653=)
c.1860G= (p.Leu620=)
n.1703G=
c.1722G= (p.Leu574=)
c.1527G= (p.Leu509=)
c.2064G= (p.Leu688=)
c.1965G= (p.Leu655=)
c.1836G= (p.Leu612=)
c.1827G= (p.Leu609=)
c.1632G= (p.Leu544=)
15g.50242290C>GCA490064114HDCc.1959G>C (p.Leu653=)
c.1860G>C (p.Leu620=)
n.1703G>C
c.1722G>C (p.Leu574=)
c.1527G>C (p.Leu509=)
c.2064G>C (p.Leu688=)
c.1965G>C (p.Leu655=)
c.1836G>C (p.Leu612=)
c.1827G>C (p.Leu609=)
c.1632G>C (p.Leu544=)
15g.50242290C>TCA490064115HDCc.1959G>A (p.Leu653=)
c.1860G>A (p.Leu620=)
n.1703G>A
c.1722G>A (p.Leu574=)
c.1527G>A (p.Leu509=)
c.2064G>A (p.Leu688=)
c.1965G>A (p.Leu655=)
c.1836G>A (p.Leu612=)
c.1827G>A (p.Leu609=)
c.1632G>A (p.Leu544=)
dbSNP gnomAD v2 gnomAD v4
15g.50242291A=CA2176326529HDCc.1958T= (p.Leu653=)
c.1859T= (p.Leu620=)
n.1702T=
c.1721T= (p.Leu574=)
c.1526T= (p.Leu509=)
c.2063T= (p.Leu688=)
c.1964T= (p.Leu655=)
c.1835T= (p.Leu612=)
c.1826T= (p.Leu609=)
c.1631T= (p.Leu544=)
15g.50242291A>CCA392376448HDCc.1958T>G (p.Leu653Arg)
c.1859T>G (p.Leu620Arg)
n.1702T>G
c.1721T>G (p.Leu574Arg)
c.1526T>G (p.Leu509Arg)
c.2063T>G (p.Leu688Arg)
c.1964T>G (p.Leu655Arg)
c.1835T>G (p.Leu612Arg)
c.1826T>G (p.Leu609Arg)
c.1631T>G (p.Leu544Arg)
15g.50242291A>GCA392376446HDCc.1958T>C (p.Leu653Pro)
c.1859T>C (p.Leu620Pro)
n.1702T>C
c.1721T>C (p.Leu574Pro)
c.1526T>C (p.Leu509Pro)
c.2063T>C (p.Leu688Pro)
c.1964T>C (p.Leu655Pro)
c.1835T>C (p.Leu612Pro)
c.1826T>C (p.Leu609Pro)
c.1631T>C (p.Leu544Pro)
15g.50242291A>TCA392376447HDCc.1958T>A (p.Leu653Gln)
c.1859T>A (p.Leu620Gln)
n.1702T>A
c.1721T>A (p.Leu574Gln)
c.1526T>A (p.Leu509Gln)
c.2063T>A (p.Leu688Gln)
c.1964T>A (p.Leu655Gln)
c.1835T>A (p.Leu612Gln)
c.1826T>A (p.Leu609Gln)
c.1631T>A (p.Leu544Gln)
15g.50242291_50242292insTGGGGCA617860224HDCc.1957_1958insCCCCA (p.Leu653ProfsTer?)
c.1858_1859insCCCCA (p.Leu620ProfsTer?)
n.1701_1702insCCCCA
c.1720_1721insCCCCA (p.Leu574ProfsTer?)
c.1525_1526insCCCCA (p.Leu509ProfsTer?)
c.2062_2063insCCCCA (p.Leu688ProfsTer?)
c.1963_1964insCCCCA (p.Leu655ProfsTer?)
c.1834_1835insCCCCA (p.Leu612ProfsTer?)
c.1825_1826insCCCCA (p.Leu609ProfsTer?)
c.1630_1631insCCCCA (p.Leu544ProfsTer?)
dbSNP gnomAD v2
15g.50242292G>ACA490064116HDCc.1957C>T (p.Leu653=)
c.1858C>T (p.Leu620=)
n.1701C>T
c.1720C>T (p.Leu574=)
c.1525C>T (p.Leu509=)
c.2062C>T (p.Leu688=)
c.1963C>T (p.Leu655=)
c.1834C>T (p.Leu612=)
c.1825C>T (p.Leu609=)
c.1630C>T (p.Leu544=)
dbSNP
15g.50242292G>CCA7554462HDCc.1957C>G (p.Leu653Val)
c.1858C>G (p.Leu620Val)
n.1701C>G
c.1720C>G (p.Leu574Val)
c.1525C>G (p.Leu509Val)
c.2062C>G (p.Leu688Val)
c.1963C>G (p.Leu655Val)
c.1834C>G (p.Leu612Val)
c.1825C>G (p.Leu609Val)
c.1630C>G (p.Leu544Val)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242292G=CA2176326530HDCc.1957C= (p.Leu653=)
c.1858C= (p.Leu620=)
n.1701C=
c.1720C= (p.Leu574=)
c.1525C= (p.Leu509=)
c.2062C= (p.Leu688=)
c.1963C= (p.Leu655=)
c.1834C= (p.Leu612=)
c.1825C= (p.Leu609=)
c.1630C= (p.Leu544=)
15g.50242292G>TCA392376449HDCc.1957C>A (p.Leu653Met)
c.1858C>A (p.Leu620Met)
n.1701C>A
c.1720C>A (p.Leu574Met)
c.1525C>A (p.Leu509Met)
c.2062C>A (p.Leu688Met)
c.1963C>A (p.Leu655Met)
c.1834C>A (p.Leu612Met)
c.1825C>A (p.Leu609Met)
c.1630C>A (p.Leu544Met)
15g.50242293C>ACA392376450HDCc.1956G>T (p.Gln652His)
c.1857G>T (p.Gln619His)
n.1700G>T
c.1719G>T (p.Gln573His)
c.1524G>T (p.Gln508His)
c.2061G>T (p.Gln687His)
c.1962G>T (p.Gln654His)
c.1833G>T (p.Gln611His)
c.1824G>T (p.Gln608His)
c.1629G>T (p.Gln543His)
15g.50242293C=CA2176326531HDCc.1956G= (p.Gln652=)
c.1857G= (p.Gln619=)
n.1700G=
c.1719G= (p.Gln573=)
c.1524G= (p.Gln508=)
c.2061G= (p.Gln687=)
c.1962G= (p.Gln654=)
c.1833G= (p.Gln611=)
c.1824G= (p.Gln608=)
c.1629G= (p.Gln543=)
15g.50242293C>GCA7554463HDCc.1956G>C (p.Gln652His)
c.1857G>C (p.Gln619His)
n.1700G>C
c.1719G>C (p.Gln573His)
c.1524G>C (p.Gln508His)
c.2061G>C (p.Gln687His)
c.1962G>C (p.Gln654His)
c.1833G>C (p.Gln611His)
c.1824G>C (p.Gln608His)
c.1629G>C (p.Gln543His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242293C>TCA490064117HDCc.1956G>A (p.Gln652=)
c.1857G>A (p.Gln619=)
n.1700G>A
c.1719G>A (p.Gln573=)
c.1524G>A (p.Gln508=)
c.2061G>A (p.Gln687=)
c.1962G>A (p.Gln654=)
c.1833G>A (p.Gln611=)
c.1824G>A (p.Gln608=)
c.1629G>A (p.Gln543=)
15g.50242294T>ACA392376451HDCc.1955A>T (p.Gln652Leu)
c.1856A>T (p.Gln619Leu)
n.1699A>T
c.1718A>T (p.Gln573Leu)
c.1523A>T (p.Gln508Leu)
c.2060A>T (p.Gln687Leu)
c.1961A>T (p.Gln654Leu)
c.1832A>T (p.Gln611Leu)
c.1823A>T (p.Gln608Leu)
c.1628A>T (p.Gln543Leu)
15g.50242294T>CCA392376452HDCc.1955A>G (p.Gln652Arg)
c.1856A>G (p.Gln619Arg)
n.1699A>G
c.1718A>G (p.Gln573Arg)
c.1523A>G (p.Gln508Arg)
c.2060A>G (p.Gln687Arg)
c.1961A>G (p.Gln654Arg)
c.1832A>G (p.Gln611Arg)
c.1823A>G (p.Gln608Arg)
c.1628A>G (p.Gln543Arg)
15g.50242294T>GCA392376453HDCc.1955A>C (p.Gln652Pro)
c.1856A>C (p.Gln619Pro)
n.1699A>C
c.1718A>C (p.Gln573Pro)
c.1523A>C (p.Gln508Pro)
c.2060A>C (p.Gln687Pro)
c.1961A>C (p.Gln654Pro)
c.1832A>C (p.Gln611Pro)
c.1823A>C (p.Gln608Pro)
c.1628A>C (p.Gln543Pro)
15g.50242294_50242295insCCTCCAGGGTCAGAATCTTTTCCAGGTTTCCAGAAGACATGATCA617860228HDCc.1955_1956insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln652HisfsTer35)
c.1856_1857insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln619HisfsTer35)
n.1699_1700insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA
c.1718_1719insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln573HisfsTer35)
c.1523_1524insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln508HisfsTer35)
c.2060_2061insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln687HisfsTer35)
c.1961_1962insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln654HisfsTer35)
c.1832_1833insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln611HisfsTer35)
c.1823_1824insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln608HisfsTer35)
c.1628_1629insTCATGTCTTCTGGAAACCTGGAAAAGATTCTGACCCTGGAGGA (p.Gln543HisfsTer35)
dbSNP gnomAD v2
15g.50242295G>ACA392376454HDCc.1954C>T (p.Gln652Ter)
c.1855C>T (p.Gln619Ter)
n.1698C>T
c.1717C>T (p.Gln573Ter)
c.1522C>T (p.Gln508Ter)
c.2059C>T (p.Gln687Ter)
c.1960C>T (p.Gln654Ter)
c.1831C>T (p.Gln611Ter)
c.1822C>T (p.Gln608Ter)
c.1627C>T (p.Gln543Ter)
15g.50242295G>CCA392376455HDCc.1954C>G (p.Gln652Glu)
c.1855C>G (p.Gln619Glu)
n.1698C>G
c.1717C>G (p.Gln573Glu)
c.1522C>G (p.Gln508Glu)
c.2059C>G (p.Gln687Glu)
c.1960C>G (p.Gln654Glu)
c.1831C>G (p.Gln611Glu)
c.1822C>G (p.Gln608Glu)
c.1627C>G (p.Gln543Glu)
15g.50242295G>TCA392376456HDCc.1954C>A (p.Gln652Lys)
c.1855C>A (p.Gln619Lys)
n.1698C>A
c.1717C>A (p.Gln573Lys)
c.1522C>A (p.Gln508Lys)
c.2059C>A (p.Gln687Lys)
c.1960C>A (p.Gln654Lys)
c.1831C>A (p.Gln611Lys)
c.1822C>A (p.Gln608Lys)
c.1627C>A (p.Gln543Lys)
15g.50242296G>ACA490064118HDCc.1953C>T (p.Leu651=)
c.1854C>T (p.Leu618=)
n.1697C>T
c.1716C>T (p.Leu572=)
c.1521C>T (p.Leu507=)
c.2058C>T (p.Leu686=)
c.1959C>T (p.Leu653=)
c.1830C>T (p.Leu610=)
c.1821C>T (p.Leu607=)
c.1626C>T (p.Leu542=)
15g.50242296G>CCA490064119HDCc.1953C>G (p.Leu651=)
c.1854C>G (p.Leu618=)
n.1697C>G
c.1716C>G (p.Leu572=)
c.1521C>G (p.Leu507=)
c.2058C>G (p.Leu686=)
c.1959C>G (p.Leu653=)
c.1830C>G (p.Leu610=)
c.1821C>G (p.Leu607=)
c.1626C>G (p.Leu542=)
15g.50242296G=CA2176326532HDCc.1953C= (p.Leu651=)
c.1854C= (p.Leu618=)
n.1697C=
c.1716C= (p.Leu572=)
c.1521C= (p.Leu507=)
c.2058C= (p.Leu686=)
c.1959C= (p.Leu653=)
c.1830C= (p.Leu610=)
c.1821C= (p.Leu607=)
c.1626C= (p.Leu542=)
15g.50242296G>TCA7554464HDCc.1953C>A (p.Leu651=)
c.1854C>A (p.Leu618=)
n.1697C>A
c.1716C>A (p.Leu572=)
c.1521C>A (p.Leu507=)
c.2058C>A (p.Leu686=)
c.1959C>A (p.Leu653=)
c.1830C>A (p.Leu610=)
c.1821C>A (p.Leu607=)
c.1626C>A (p.Leu542=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242297A=CA2176326533HDCc.1952T= (p.Leu651=)
c.1853T= (p.Leu618=)
n.1696T=
c.1715T= (p.Leu572=)
c.1520T= (p.Leu507=)
c.2057T= (p.Leu686=)
c.1958T= (p.Leu653=)
c.1829T= (p.Leu610=)
c.1820T= (p.Leu607=)
c.1625T= (p.Leu542=)
15g.50242297A>CCA392376459HDCc.1952T>G (p.Leu651Arg)
c.1853T>G (p.Leu618Arg)
n.1696T>G
c.1715T>G (p.Leu572Arg)
c.1520T>G (p.Leu507Arg)
c.2057T>G (p.Leu686Arg)
c.1958T>G (p.Leu653Arg)
c.1829T>G (p.Leu610Arg)
c.1820T>G (p.Leu607Arg)
c.1625T>G (p.Leu542Arg)
15g.50242297A>GCA392376457HDCc.1952T>C (p.Leu651Pro)
c.1853T>C (p.Leu618Pro)
n.1696T>C
c.1715T>C (p.Leu572Pro)
c.1520T>C (p.Leu507Pro)
c.2057T>C (p.Leu686Pro)
c.1958T>C (p.Leu653Pro)
c.1829T>C (p.Leu610Pro)
c.1820T>C (p.Leu607Pro)
c.1625T>C (p.Leu542Pro)
dbSNP gnomAD v2 gnomAD v4
15g.50242297A>TCA392376458HDCc.1952T>A (p.Leu651His)
c.1853T>A (p.Leu618His)
n.1696T>A
c.1715T>A (p.Leu572His)
c.1520T>A (p.Leu507His)
c.2057T>A (p.Leu686His)
c.1958T>A (p.Leu653His)
c.1829T>A (p.Leu610His)
c.1820T>A (p.Leu607His)
c.1625T>A (p.Leu542His)
15g.50242298G>ACA392376460HDCc.1951C>T (p.Leu651Phe)
c.1852C>T (p.Leu618Phe)
n.1695C>T
c.1714C>T (p.Leu572Phe)
c.1519C>T (p.Leu507Phe)
c.2056C>T (p.Leu686Phe)
c.1957C>T (p.Leu653Phe)
c.1828C>T (p.Leu610Phe)
c.1819C>T (p.Leu607Phe)
c.1624C>T (p.Leu542Phe)
dbSNP gnomAD v3 gnomAD v4
15g.50242298G>CCA392376461HDCc.1951C>G (p.Leu651Val)
c.1852C>G (p.Leu618Val)
n.1695C>G
c.1714C>G (p.Leu572Val)
c.1519C>G (p.Leu507Val)
c.2056C>G (p.Leu686Val)
c.1957C>G (p.Leu653Val)
c.1828C>G (p.Leu610Val)
c.1819C>G (p.Leu607Val)
c.1624C>G (p.Leu542Val)
15g.50242298G=CA2176326534HDCc.1951C= (p.Leu651=)
c.1852C= (p.Leu618=)
n.1695C=
c.1714C= (p.Leu572=)
c.1519C= (p.Leu507=)
c.2056C= (p.Leu686=)
c.1957C= (p.Leu653=)
c.1828C= (p.Leu610=)
c.1819C= (p.Leu607=)
c.1624C= (p.Leu542=)
15g.50242298G>TCA392376462HDCc.1951C>A (p.Leu651Ile)
c.1852C>A (p.Leu618Ile)
n.1695C>A
c.1714C>A (p.Leu572Ile)
c.1519C>A (p.Leu507Ile)
c.2056C>A (p.Leu686Ile)
c.1957C>A (p.Leu653Ile)
c.1828C>A (p.Leu610Ile)
c.1819C>A (p.Leu607Ile)
c.1624C>A (p.Leu542Ile)
15g.50242299T>ACA490064121HDCc.1950A>T (p.Gly650=)
c.1851A>T (p.Gly617=)
n.1694A>T
c.1713A>T (p.Gly571=)
c.1518A>T (p.Gly506=)
c.2055A>T (p.Gly685=)
c.1956A>T (p.Gly652=)
c.1827A>T (p.Gly609=)
c.1818A>T (p.Gly606=)
c.1623A>T (p.Gly541=)
15g.50242299T>CCA490064120HDCc.1950A>G (p.Gly650=)
c.1851A>G (p.Gly617=)
n.1694A>G
c.1713A>G (p.Gly571=)
c.1518A>G (p.Gly506=)
c.2055A>G (p.Gly685=)
c.1956A>G (p.Gly652=)
c.1827A>G (p.Gly609=)
c.1818A>G (p.Gly606=)
c.1623A>G (p.Gly541=)
15g.50242299T>GCA7554465HDCc.1950A>C (p.Gly650=)
c.1851A>C (p.Gly617=)
n.1694A>C
c.1713A>C (p.Gly571=)
c.1518A>C (p.Gly506=)
c.2055A>C (p.Gly685=)
c.1956A>C (p.Gly652=)
c.1827A>C (p.Gly609=)
c.1818A>C (p.Gly606=)
c.1623A>C (p.Gly541=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242299T=CA2176326535HDCc.1950A= (p.Gly650=)
c.1851A= (p.Gly617=)
n.1694A=
c.1713A= (p.Gly571=)
c.1518A= (p.Gly506=)
c.2055A= (p.Gly685=)
c.1956A= (p.Gly652=)
c.1827A= (p.Gly609=)
c.1818A= (p.Gly606=)
c.1623A= (p.Gly541=)
15g.50242300C>ACA392376463HDCc.1949G>T (p.Gly650Val)
c.1850G>T (p.Gly617Val)
n.1693G>T
c.1712G>T (p.Gly571Val)
c.1517G>T (p.Gly506Val)
c.2054G>T (p.Gly685Val)
c.1955G>T (p.Gly652Val)
c.1826G>T (p.Gly609Val)
c.1817G>T (p.Gly606Val)
c.1622G>T (p.Gly541Val)
15g.50242300C=CA2176326536HDCc.1949G= (p.Gly650=)
c.1850G= (p.Gly617=)
n.1693G=
c.1712G= (p.Gly571=)
c.1517G= (p.Gly506=)
c.2054G= (p.Gly685=)
c.1955G= (p.Gly652=)
c.1826G= (p.Gly609=)
c.1817G= (p.Gly606=)
c.1622G= (p.Gly541=)
15g.50242300C>GCA392376464HDCc.1949G>C (p.Gly650Ala)
c.1850G>C (p.Gly617Ala)
n.1693G>C
c.1712G>C (p.Gly571Ala)
c.1517G>C (p.Gly506Ala)
c.2054G>C (p.Gly685Ala)
c.1955G>C (p.Gly652Ala)
c.1826G>C (p.Gly609Ala)
c.1817G>C (p.Gly606Ala)
c.1622G>C (p.Gly541Ala)
15g.50242300C>TCA270413709HDCc.1949G>A (p.Gly650Glu)
c.1850G>A (p.Gly617Glu)
n.1693G>A
c.1712G>A (p.Gly571Glu)
c.1517G>A (p.Gly506Glu)
c.2054G>A (p.Gly685Glu)
c.1955G>A (p.Gly652Glu)
c.1826G>A (p.Gly609Glu)
c.1817G>A (p.Gly606Glu)
c.1622G>A (p.Gly541Glu)
dbSNP
15g.50242301C>ACA392376465HDCc.1948G>T (p.Gly650Ter)
c.1849G>T (p.Gly617Ter)
n.1692G>T
c.1711G>T (p.Gly571Ter)
c.1516G>T (p.Gly506Ter)
c.2053G>T (p.Gly685Ter)
c.1954G>T (p.Gly652Ter)
c.1825G>T (p.Gly609Ter)
c.1816G>T (p.Gly606Ter)
c.1621G>T (p.Gly541Ter)
15g.50242301C=CA2176326537HDCc.1948G= (p.Gly650=)
c.1849G= (p.Gly617=)
n.1692G=
c.1711G= (p.Gly571=)
c.1516G= (p.Gly506=)
c.2053G= (p.Gly685=)
c.1954G= (p.Gly652=)
c.1825G= (p.Gly609=)
c.1816G= (p.Gly606=)
c.1621G= (p.Gly541=)
15g.50242301C>GCA392376466HDCc.1948G>C (p.Gly650Arg)
c.1849G>C (p.Gly617Arg)
n.1692G>C
c.1711G>C (p.Gly571Arg)
c.1516G>C (p.Gly506Arg)
c.2053G>C (p.Gly685Arg)
c.1954G>C (p.Gly652Arg)
c.1825G>C (p.Gly609Arg)
c.1816G>C (p.Gly606Arg)
c.1621G>C (p.Gly541Arg)
15g.50242301C>TCA392376467HDCc.1948G>A (p.Gly650Arg)
c.1849G>A (p.Gly617Arg)
n.1692G>A
c.1711G>A (p.Gly571Arg)
c.1516G>A (p.Gly506Arg)
c.2053G>A (p.Gly685Arg)
c.1954G>A (p.Gly652Arg)
c.1825G>A (p.Gly609Arg)
c.1816G>A (p.Gly606Arg)
c.1621G>A (p.Gly541Arg)
dbSNP
15g.50242302A=CA2176326538HDCc.1947T= (p.Cys649=)
c.1848T= (p.Cys616=)
n.1691T=
c.1710T= (p.Cys570=)
c.1515T= (p.Cys505=)
c.2052T= (p.Cys684=)
c.1953T= (p.Cys651=)
c.1824T= (p.Cys608=)
c.1815T= (p.Cys605=)
c.1620T= (p.Cys540=)
15g.50242302A>CCA392376468HDCc.1947T>G (p.Cys649Trp)
c.1848T>G (p.Cys616Trp)
n.1691T>G
c.1710T>G (p.Cys570Trp)
c.1515T>G (p.Cys505Trp)
c.2052T>G (p.Cys684Trp)
c.1953T>G (p.Cys651Trp)
c.1824T>G (p.Cys608Trp)
c.1815T>G (p.Cys605Trp)
c.1620T>G (p.Cys540Trp)
15g.50242302A>GCA490064122HDCc.1947T>C (p.Cys649=)
c.1848T>C (p.Cys616=)
n.1691T>C
c.1710T>C (p.Cys570=)
c.1515T>C (p.Cys505=)
c.2052T>C (p.Cys684=)
c.1953T>C (p.Cys651=)
c.1824T>C (p.Cys608=)
c.1815T>C (p.Cys605=)
c.1620T>C (p.Cys540=)
15g.50242302A>TCA392376469HDCc.1947T>A (p.Cys649Ter)
c.1848T>A (p.Cys616Ter)
n.1691T>A
c.1710T>A (p.Cys570Ter)
c.1515T>A (p.Cys505Ter)
c.2052T>A (p.Cys684Ter)
c.1953T>A (p.Cys651Ter)
c.1824T>A (p.Cys608Ter)
c.1815T>A (p.Cys605Ter)
c.1620T>A (p.Cys540Ter)
dbSNP gnomAD v2 gnomAD v4
15g.50242303C>ACA392376471HDCc.1946G>T (p.Cys649Phe)
c.1847G>T (p.Cys616Phe)
n.1690G>T
c.1709G>T (p.Cys570Phe)
c.1514G>T (p.Cys505Phe)
c.2051G>T (p.Cys684Phe)
c.1952G>T (p.Cys651Phe)
c.1823G>T (p.Cys608Phe)
c.1814G>T (p.Cys605Phe)
c.1619G>T (p.Cys540Phe)
15g.50242303C=CA2176326539HDCc.1946G= (p.Cys649=)
c.1847G= (p.Cys616=)
n.1690G=
c.1709G= (p.Cys570=)
c.1514G= (p.Cys505=)
c.2051G= (p.Cys684=)
c.1952G= (p.Cys651=)
c.1823G= (p.Cys608=)
c.1814G= (p.Cys605=)
c.1619G= (p.Cys540=)
15g.50242303C>GCA392376470HDCc.1946G>C (p.Cys649Ser)
c.1847G>C (p.Cys616Ser)
n.1690G>C
c.1709G>C (p.Cys570Ser)
c.1514G>C (p.Cys505Ser)
c.2051G>C (p.Cys684Ser)
c.1952G>C (p.Cys651Ser)
c.1823G>C (p.Cys608Ser)
c.1814G>C (p.Cys605Ser)
c.1619G>C (p.Cys540Ser)
15g.50242303C>TCA7554466HDCc.1946G>A (p.Cys649Tyr)
c.1847G>A (p.Cys616Tyr)
n.1690G>A
c.1709G>A (p.Cys570Tyr)
c.1514G>A (p.Cys505Tyr)
c.2051G>A (p.Cys684Tyr)
c.1952G>A (p.Cys651Tyr)
c.1823G>A (p.Cys608Tyr)
c.1814G>A (p.Cys605Tyr)
c.1619G>A (p.Cys540Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242304A=CA2176326540HDCc.1945T= (p.Cys649=)
c.1846T= (p.Cys616=)
n.1689T=
c.1708T= (p.Cys570=)
c.1513T= (p.Cys505=)
c.2050T= (p.Cys684=)
c.1951T= (p.Cys651=)
c.1822T= (p.Cys608=)
c.1813T= (p.Cys605=)
c.1618T= (p.Cys540=)
15g.50242304A>CCA392376472HDCc.1945T>G (p.Cys649Gly)
c.1846T>G (p.Cys616Gly)
n.1689T>G
c.1708T>G (p.Cys570Gly)
c.1513T>G (p.Cys505Gly)
c.2050T>G (p.Cys684Gly)
c.1951T>G (p.Cys651Gly)
c.1822T>G (p.Cys608Gly)
c.1813T>G (p.Cys605Gly)
c.1618T>G (p.Cys540Gly)
15g.50242304A>GCA392376473HDCc.1945T>C (p.Cys649Arg)
c.1846T>C (p.Cys616Arg)
n.1689T>C
c.1708T>C (p.Cys570Arg)
c.1513T>C (p.Cys505Arg)
c.2050T>C (p.Cys684Arg)
c.1951T>C (p.Cys651Arg)
c.1822T>C (p.Cys608Arg)
c.1813T>C (p.Cys605Arg)
c.1618T>C (p.Cys540Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50242304A>TCA392376474HDCc.1945T>A (p.Cys649Ser)
c.1846T>A (p.Cys616Ser)
n.1689T>A
c.1708T>A (p.Cys570Ser)
c.1513T>A (p.Cys505Ser)
c.2050T>A (p.Cys684Ser)
c.1951T>A (p.Cys651Ser)
c.1822T>A (p.Cys608Ser)
c.1813T>A (p.Cys605Ser)
c.1618T>A (p.Cys540Ser)
15g.50242305T>ACA392376475HDCc.1944A>T (p.Gln648His)
c.1845A>T (p.Gln615His)
n.1688A>T
c.1707A>T (p.Gln569His)
c.1512A>T (p.Gln504His)
c.2049A>T (p.Gln683His)
c.1950A>T (p.Gln650His)
c.1821A>T (p.Gln607His)
c.1812A>T (p.Gln604His)
c.1617A>T (p.Gln539His)
15g.50242305T>CCA7554467HDCc.1944A>G (p.Gln648=)
c.1845A>G (p.Gln615=)
n.1688A>G
c.1707A>G (p.Gln569=)
c.1512A>G (p.Gln504=)
c.2049A>G (p.Gln683=)
c.1950A>G (p.Gln650=)
c.1821A>G (p.Gln607=)
c.1812A>G (p.Gln604=)
c.1617A>G (p.Gln539=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.50242305T>GCA392376476HDCc.1944A>C (p.Gln648His)
c.1845A>C (p.Gln615His)
n.1688A>C
c.1707A>C (p.Gln569His)
c.1512A>C (p.Gln504His)
c.2049A>C (p.Gln683His)
c.1950A>C (p.Gln650His)
c.1821A>C (p.Gln607His)
c.1812A>C (p.Gln604His)
c.1617A>C (p.Gln539His)
15g.50242305T=CA2176326541HDCc.1944A= (p.Gln648=)
c.1845A= (p.Gln615=)
n.1688A=
c.1707A= (p.Gln569=)
c.1512A= (p.Gln504=)
c.2049A= (p.Gln683=)
c.1950A= (p.Gln650=)
c.1821A= (p.Gln607=)
c.1812A= (p.Gln604=)
c.1617A= (p.Gln539=)
15g.50242306T>ACA392376479HDCc.1943A>T (p.Gln648Leu)
c.1844A>T (p.Gln615Leu)
n.1687A>T
c.1706A>T (p.Gln569Leu)
c.1511A>T (p.Gln504Leu)
c.2048A>T (p.Gln683Leu)
c.1949A>T (p.Gln650Leu)
c.1820A>T (p.Gln607Leu)
c.1811A>T (p.Gln604Leu)
c.1616A>T (p.Gln539Leu)
15g.50242306T>CCA392376478HDCc.1943A>G (p.Gln648Arg)
c.1844A>G (p.Gln615Arg)
n.1687A>G
c.1706A>G (p.Gln569Arg)
c.1511A>G (p.Gln504Arg)
c.2048A>G (p.Gln683Arg)
c.1949A>G (p.Gln650Arg)
c.1820A>G (p.Gln607Arg)
c.1811A>G (p.Gln604Arg)
c.1616A>G (p.Gln539Arg)
15g.50242306T>GCA392376477HDCc.1943A>C (p.Gln648Pro)
c.1844A>C (p.Gln615Pro)
n.1687A>C
c.1706A>C (p.Gln569Pro)
c.1511A>C (p.Gln504Pro)
c.2048A>C (p.Gln683Pro)
c.1949A>C (p.Gln650Pro)
c.1820A>C (p.Gln607Pro)
c.1811A>C (p.Gln604Pro)
c.1616A>C (p.Gln539Pro)
15g.50242307G>ACA7554468HDCc.1942C>T (p.Gln648Ter)
c.1843C>T (p.Gln615Ter)
n.1686C>T
c.1705C>T (p.Gln569Ter)
c.1510C>T (p.Gln504Ter)
c.2047C>T (p.Gln683Ter)
c.1948C>T (p.Gln650Ter)
c.1819C>T (p.Gln607Ter)
c.1810C>T (p.Gln604Ter)
c.1615C>T (p.Gln539Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.50242307G>CCA392376480HDCc.1942C>G (p.Gln648Glu)
c.1843C>G (p.Gln615Glu)
n.1686C>G
c.1705C>G (p.Gln569Glu)
c.1510C>G (p.Gln504Glu)
c.2047C>G (p.Gln683Glu)
c.1948C>G (p.Gln650Glu)
c.1819C>G (p.Gln607Glu)
c.1810C>G (p.Gln604Glu)
c.1615C>G (p.Gln539Glu)
15g.50242307G=CA2176326542HDCc.1942C= (p.Gln648=)
c.1843C= (p.Gln615=)
n.1686C=
c.1705C= (p.Gln569=)
c.1510C= (p.Gln504=)
c.2047C= (p.Gln683=)
c.1948C= (p.Gln650=)
c.1819C= (p.Gln607=)
c.1810C= (p.Gln604=)
c.1615C= (p.Gln539=)
15g.50242307G>TCA392376481HDCc.1942C>A (p.Gln648Lys)
c.1843C>A (p.Gln615Lys)
n.1686C>A
c.1705C>A (p.Gln569Lys)
c.1510C>A (p.Gln504Lys)
c.2047C>A (p.Gln683Lys)
c.1948C>A (p.Gln650Lys)
c.1819C>A (p.Gln607Lys)
c.1810C>A (p.Gln604Lys)
c.1615C>A (p.Gln539Lys)
15g.50242308A>CCA490064123HDCc.1941T>G (p.Ser647=)
c.1842T>G (p.Ser614=)
n.1685T>G
c.1704T>G (p.Ser568=)
c.1509T>G (p.Ser503=)
c.2046T>G (p.Ser682=)
c.1947T>G (p.Ser649=)
c.1818T>G (p.Ser606=)
c.1809T>G (p.Ser603=)
c.1614T>G (p.Ser538=)
15g.50242308A>GCA490064124HDCc.1941T>C (p.Ser647=)
c.1842T>C (p.Ser614=)
n.1685T>C
c.1704T>C (p.Ser568=)
c.1509T>C (p.Ser503=)
c.2046T>C (p.Ser682=)
c.1947T>C (p.Ser649=)
c.1818T>C (p.Ser606=)
c.1809T>C (p.Ser603=)
c.1614T>C (p.Ser538=)
15g.50242308A>TCA490064125HDCc.1941T>A (p.Ser647=)
c.1842T>A (p.Ser614=)
n.1685T>A
c.1704T>A (p.Ser568=)
c.1509T>A (p.Ser503=)
c.2046T>A (p.Ser682=)
c.1947T>A (p.Ser649=)
c.1818T>A (p.Ser606=)
c.1809T>A (p.Ser603=)
c.1614T>A (p.Ser538=)
15g.50242309G>ACA392376482HDCc.1940C>T (p.Ser647Phe)
c.1841C>T (p.Ser614Phe)
n.1684C>T
c.1703C>T (p.Ser568Phe)
c.1508C>T (p.Ser503Phe)
c.2045C>T (p.Ser682Phe)
c.1946C>T (p.Ser649Phe)
c.1817C>T (p.Ser606Phe)
c.1808C>T (p.Ser603Phe)
c.1613C>T (p.Ser538Phe)
gnomAD v4
15g.50242309G>CCA392376483HDCc.1940C>G (p.Ser647Cys)
c.1841C>G (p.Ser614Cys)
n.1684C>G
c.1703C>G (p.Ser568Cys)
c.1508C>G (p.Ser503Cys)
c.2045C>G (p.Ser682Cys)
c.1946C>G (p.Ser649Cys)
c.1817C>G (p.Ser606Cys)
c.1808C>G (p.Ser603Cys)
c.1613C>G (p.Ser538Cys)
dbSNP gnomAD v4
15g.50242309G=CA2176326543HDCc.1940C= (p.Ser647=)
c.1841C= (p.Ser614=)
n.1684C=
c.1703C= (p.Ser568=)
c.1508C= (p.Ser503=)
c.2045C= (p.Ser682=)
c.1946C= (p.Ser649=)
c.1817C= (p.Ser606=)
c.1808C= (p.Ser603=)
c.1613C= (p.Ser538=)
15g.50242309G>TCA392376484HDCc.1940C>A (p.Ser647Tyr)
c.1841C>A (p.Ser614Tyr)
n.1684C>A
c.1703C>A (p.Ser568Tyr)
c.1508C>A (p.Ser503Tyr)
c.2045C>A (p.Ser682Tyr)
c.1946C>A (p.Ser649Tyr)
c.1817C>A (p.Ser606Tyr)
c.1808C>A (p.Ser603Tyr)
c.1613C>A (p.Ser538Tyr)
15g.50242310A>CCA392376485HDCc.1939T>G (p.Ser647Ala)
c.1840T>G (p.Ser614Ala)
n.1683T>G
c.1702T>G (p.Ser568Ala)
c.1507T>G (p.Ser503Ala)
c.2044T>G (p.Ser682Ala)
c.1945T>G (p.Ser649Ala)
c.1816T>G (p.Ser606Ala)
c.1807T>G (p.Ser603Ala)
c.1612T>G (p.Ser538Ala)
15g.50242310A>GCA392376487HDCc.1939T>C (p.Ser647Pro)
c.1840T>C (p.Ser614Pro)
n.1683T>C
c.1702T>C (p.Ser568Pro)
c.1507T>C (p.Ser503Pro)
c.2044T>C (p.Ser682Pro)
c.1945T>C (p.Ser649Pro)
c.1816T>C (p.Ser606Pro)
c.1807T>C (p.Ser603Pro)
c.1612T>C (p.Ser538Pro)
15g.50242310A>TCA392376486HDCc.1939T>A (p.Ser647Thr)
c.1840T>A (p.Ser614Thr)
n.1683T>A
c.1702T>A (p.Ser568Thr)
c.1507T>A (p.Ser503Thr)
c.2044T>A (p.Ser682Thr)
c.1945T>A (p.Ser649Thr)
c.1816T>A (p.Ser606Thr)
c.1807T>A (p.Ser603Thr)
c.1612T>A (p.Ser538Thr)
15g.50242311G>ACA7554469HDCc.1938C>T (p.Ser646=)
c.1839C>T (p.Ser613=)
n.1682C>T
c.1701C>T (p.Ser567=)
c.1506C>T (p.Ser502=)
c.2043C>T (p.Ser681=)
c.1944C>T (p.Ser648=)
c.1815C>T (p.Ser605=)
c.1806C>T (p.Ser602=)
c.1611C>T (p.Ser537=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242311G>CCA392376488HDCc.1938C>G (p.Ser646Arg)
c.1839C>G (p.Ser613Arg)
n.1682C>G
c.1701C>G (p.Ser567Arg)
c.1506C>G (p.Ser502Arg)
c.2043C>G (p.Ser681Arg)
c.1944C>G (p.Ser648Arg)
c.1815C>G (p.Ser605Arg)
c.1806C>G (p.Ser602Arg)
c.1611C>G (p.Ser537Arg)
15g.50242311G=CA2176326544HDCc.1938C= (p.Ser646=)
c.1839C= (p.Ser613=)
n.1682C=
c.1701C= (p.Ser567=)
c.1506C= (p.Ser502=)
c.2043C= (p.Ser681=)
c.1944C= (p.Ser648=)
c.1815C= (p.Ser605=)
c.1806C= (p.Ser602=)
c.1611C= (p.Ser537=)
15g.50242311G>TCA392376489HDCc.1938C>A (p.Ser646Arg)
c.1839C>A (p.Ser613Arg)
n.1682C>A
c.1701C>A (p.Ser567Arg)
c.1506C>A (p.Ser502Arg)
c.2043C>A (p.Ser681Arg)
c.1944C>A (p.Ser648Arg)
c.1815C>A (p.Ser605Arg)
c.1806C>A (p.Ser602Arg)
c.1611C>A (p.Ser537Arg)
15g.50242312C>ACA392376490HDCc.1937G>T (p.Ser646Ile)
c.1838G>T (p.Ser613Ile)
n.1681G>T
c.1700G>T (p.Ser567Ile)
c.1505G>T (p.Ser502Ile)
c.2042G>T (p.Ser681Ile)
c.1943G>T (p.Ser648Ile)
c.1814G>T (p.Ser605Ile)
c.1805G>T (p.Ser602Ile)
c.1610G>T (p.Ser537Ile)
dbSNP
15g.50242312C=CA2176326545HDCc.1937G= (p.Ser646=)
c.1838G= (p.Ser613=)
n.1681G=
c.1700G= (p.Ser567=)
c.1505G= (p.Ser502=)
c.2042G= (p.Ser681=)
c.1943G= (p.Ser648=)
c.1814G= (p.Ser605=)
c.1805G= (p.Ser602=)
c.1610G= (p.Ser537=)
15g.50242312C>GCA392376491HDCc.1937G>C (p.Ser646Thr)
c.1838G>C (p.Ser613Thr)
n.1681G>C
c.1700G>C (p.Ser567Thr)
c.1505G>C (p.Ser502Thr)
c.2042G>C (p.Ser681Thr)
c.1943G>C (p.Ser648Thr)
c.1814G>C (p.Ser605Thr)
c.1805G>C (p.Ser602Thr)
c.1610G>C (p.Ser537Thr)
15g.50242312C>TCA7554470HDCc.1937G>A (p.Ser646Asn)
c.1838G>A (p.Ser613Asn)
n.1681G>A
c.1700G>A (p.Ser567Asn)
c.1505G>A (p.Ser502Asn)
c.2042G>A (p.Ser681Asn)
c.1943G>A (p.Ser648Asn)
c.1814G>A (p.Ser605Asn)
c.1805G>A (p.Ser602Asn)
c.1610G>A (p.Ser537Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242313T>ACA392376740HDCc.1936A>T (p.Ser646Cys)
c.1837A>T (p.Ser613Cys)
n.1680A>T
c.1699A>T (p.Ser567Cys)
c.1504A>T (p.Ser502Cys)
c.2041A>T (p.Ser681Cys)
c.1942A>T (p.Ser648Cys)
c.1813A>T (p.Ser605Cys)
c.1804A>T (p.Ser602Cys)
c.1609A>T (p.Ser537Cys)
15g.50242313T>CCA392376741HDCc.1936A>G (p.Ser646Gly)
c.1837A>G (p.Ser613Gly)
n.1680A>G
c.1699A>G (p.Ser567Gly)
c.1504A>G (p.Ser502Gly)
c.2041A>G (p.Ser681Gly)
c.1942A>G (p.Ser648Gly)
c.1813A>G (p.Ser605Gly)
c.1804A>G (p.Ser602Gly)
c.1609A>G (p.Ser537Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50242313T>GCA392376742HDCc.1936A>C (p.Ser646Arg)
c.1837A>C (p.Ser613Arg)
n.1680A>C
c.1699A>C (p.Ser567Arg)
c.1504A>C (p.Ser502Arg)
c.2041A>C (p.Ser681Arg)
c.1942A>C (p.Ser648Arg)
c.1813A>C (p.Ser605Arg)
c.1804A>C (p.Ser602Arg)
c.1609A>C (p.Ser537Arg)
15g.50242313T=CA2176326546HDCc.1936A= (p.Ser646=)
c.1837A= (p.Ser613=)
n.1680A=
c.1699A= (p.Ser567=)
c.1504A= (p.Ser502=)
c.2041A= (p.Ser681=)
c.1942A= (p.Ser648=)
c.1813A= (p.Ser605=)
c.1804A= (p.Ser602=)
c.1609A= (p.Ser537=)
15g.50242314G>ACA490313880HDCc.1935C>T (p.Cys645=)
c.1836C>T (p.Cys612=)
n.1679C>T
c.1698C>T (p.Cys566=)
c.1503C>T (p.Cys501=)
c.2040C>T (p.Cys680=)
c.1941C>T (p.Cys647=)
c.1812C>T (p.Cys604=)
c.1803C>T (p.Cys601=)
c.1608C>T (p.Cys536=)
15g.50242314G>CCA392376743HDCc.1935C>G (p.Cys645Trp)
c.1836C>G (p.Cys612Trp)
n.1679C>G
c.1698C>G (p.Cys566Trp)
c.1503C>G (p.Cys501Trp)
c.2040C>G (p.Cys680Trp)
c.1941C>G (p.Cys647Trp)
c.1812C>G (p.Cys604Trp)
c.1803C>G (p.Cys601Trp)
c.1608C>G (p.Cys536Trp)
15g.50242314G>TCA392376744HDCc.1935C>A (p.Cys645Ter)
c.1836C>A (p.Cys612Ter)
n.1679C>A
c.1698C>A (p.Cys566Ter)
c.1503C>A (p.Cys501Ter)
c.2040C>A (p.Cys680Ter)
c.1941C>A (p.Cys647Ter)
c.1812C>A (p.Cys604Ter)
c.1803C>A (p.Cys601Ter)
c.1608C>A (p.Cys536Ter)
15g.50242315C>ACA392376747HDCc.1934G>T (p.Cys645Phe)
c.1835G>T (p.Cys612Phe)
n.1678G>T
c.1697G>T (p.Cys566Phe)
c.1502G>T (p.Cys501Phe)
c.2039G>T (p.Cys680Phe)
c.1940G>T (p.Cys647Phe)
c.1811G>T (p.Cys604Phe)
c.1802G>T (p.Cys601Phe)
c.1607G>T (p.Cys536Phe)
15g.50242315C=CA2176326547HDCc.1934G= (p.Cys645=)
c.1835G= (p.Cys612=)
n.1678G=
c.1697G= (p.Cys566=)
c.1502G= (p.Cys501=)
c.2039G= (p.Cys680=)
c.1940G= (p.Cys647=)
c.1811G= (p.Cys604=)
c.1802G= (p.Cys601=)
c.1607G= (p.Cys536=)
15g.50242315C>GCA392376746HDCc.1934G>C (p.Cys645Ser)
c.1835G>C (p.Cys612Ser)
n.1678G>C
c.1697G>C (p.Cys566Ser)
c.1502G>C (p.Cys501Ser)
c.2039G>C (p.Cys680Ser)
c.1940G>C (p.Cys647Ser)
c.1811G>C (p.Cys604Ser)
c.1802G>C (p.Cys601Ser)
c.1607G>C (p.Cys536Ser)
15g.50242315C>TCA392376745HDCc.1934G>A (p.Cys645Tyr)
c.1835G>A (p.Cys612Tyr)
n.1678G>A
c.1697G>A (p.Cys566Tyr)
c.1502G>A (p.Cys501Tyr)
c.2039G>A (p.Cys680Tyr)
c.1940G>A (p.Cys647Tyr)
c.1811G>A (p.Cys604Tyr)
c.1802G>A (p.Cys601Tyr)
c.1607G>A (p.Cys536Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50242316A>CCA392376748HDCc.1933T>G (p.Cys645Gly)
c.1834T>G (p.Cys612Gly)
n.1677T>G
c.1696T>G (p.Cys566Gly)
c.1501T>G (p.Cys501Gly)
c.2038T>G (p.Cys680Gly)
c.1939T>G (p.Cys647Gly)
c.1810T>G (p.Cys604Gly)
c.1801T>G (p.Cys601Gly)
c.1606T>G (p.Cys536Gly)
15g.50242316A>GCA392376750HDCc.1933T>C (p.Cys645Arg)
c.1834T>C (p.Cys612Arg)
n.1677T>C
c.1696T>C (p.Cys566Arg)
c.1501T>C (p.Cys501Arg)
c.2038T>C (p.Cys680Arg)
c.1939T>C (p.Cys647Arg)
c.1810T>C (p.Cys604Arg)
c.1801T>C (p.Cys601Arg)
c.1606T>C (p.Cys536Arg)
gnomAD v4
15g.50242316A>TCA392376749HDCc.1933T>A (p.Cys645Ser)
c.1834T>A (p.Cys612Ser)
n.1677T>A
c.1696T>A (p.Cys566Ser)
c.1501T>A (p.Cys501Ser)
c.2038T>A (p.Cys680Ser)
c.1939T>A (p.Cys647Ser)
c.1810T>A (p.Cys604Ser)
c.1801T>A (p.Cys601Ser)
c.1606T>A (p.Cys536Ser)
15g.50242317T>ACA392376751HDCc.1932A>T (p.Glu644Asp)
c.1833A>T (p.Glu611Asp)
n.1676A>T
c.1695A>T (p.Glu565Asp)
c.1500A>T (p.Glu500Asp)
c.2037A>T (p.Glu679Asp)
c.1938A>T (p.Glu646Asp)
c.1809A>T (p.Glu603Asp)
c.1800A>T (p.Glu600Asp)
c.1605A>T (p.Glu535Asp)
15g.50242317T>CCA490313887HDCc.1932A>G (p.Glu644=)
c.1833A>G (p.Glu611=)
n.1676A>G
c.1695A>G (p.Glu565=)
c.1500A>G (p.Glu500=)
c.2037A>G (p.Glu679=)
c.1938A>G (p.Glu646=)
c.1809A>G (p.Glu603=)
c.1800A>G (p.Glu600=)
c.1605A>G (p.Glu535=)
15g.50242317T>GCA7554471HDCc.1932A>C (p.Glu644Asp)
c.1833A>C (p.Glu611Asp)
n.1676A>C
c.1695A>C (p.Glu565Asp)
c.1500A>C (p.Glu500Asp)
c.2037A>C (p.Glu679Asp)
c.1938A>C (p.Glu646Asp)
c.1809A>C (p.Glu603Asp)
c.1800A>C (p.Glu600Asp)
c.1605A>C (p.Glu535Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242317T=CA2176326548HDCc.1932A= (p.Glu644=)
c.1833A= (p.Glu611=)
n.1676A=
c.1695A= (p.Glu565=)
c.1500A= (p.Glu500=)
c.2037A= (p.Glu679=)
c.1938A= (p.Glu646=)
c.1809A= (p.Glu603=)
c.1800A= (p.Glu600=)
c.1605A= (p.Glu535=)
15g.50242318T>ACA392376752HDCc.1931A>T (p.Glu644Val)
c.1832A>T (p.Glu611Val)
n.1675A>T
c.1694A>T (p.Glu565Val)
c.1499A>T (p.Glu500Val)
c.2036A>T (p.Glu679Val)
c.1937A>T (p.Glu646Val)
c.1808A>T (p.Glu603Val)
c.1799A>T (p.Glu600Val)
c.1604A>T (p.Glu535Val)
15g.50242318T>CCA392376754HDCc.1931A>G (p.Glu644Gly)
c.1832A>G (p.Glu611Gly)
n.1675A>G
c.1694A>G (p.Glu565Gly)
c.1499A>G (p.Glu500Gly)
c.2036A>G (p.Glu679Gly)
c.1937A>G (p.Glu646Gly)
c.1808A>G (p.Glu603Gly)
c.1799A>G (p.Glu600Gly)
c.1604A>G (p.Glu535Gly)
15g.50242318T>GCA392376753HDCc.1931A>C (p.Glu644Ala)
c.1832A>C (p.Glu611Ala)
n.1675A>C
c.1694A>C (p.Glu565Ala)
c.1499A>C (p.Glu500Ala)
c.2036A>C (p.Glu679Ala)
c.1937A>C (p.Glu646Ala)
c.1808A>C (p.Glu603Ala)
c.1799A>C (p.Glu600Ala)
c.1604A>C (p.Glu535Ala)
15g.50242319C>ACA392376755HDCc.1930G>T (p.Glu644Ter)
c.1831G>T (p.Glu611Ter)
n.1674G>T
c.1693G>T (p.Glu565Ter)
c.1498G>T (p.Glu500Ter)
c.2035G>T (p.Glu679Ter)
c.1936G>T (p.Glu646Ter)
c.1807G>T (p.Glu603Ter)
c.1798G>T (p.Glu600Ter)
c.1603G>T (p.Glu535Ter)
15g.50242319C>GCA392376756HDCc.1930G>C (p.Glu644Gln)
c.1831G>C (p.Glu611Gln)
n.1674G>C
c.1693G>C (p.Glu565Gln)
c.1498G>C (p.Glu500Gln)
c.2035G>C (p.Glu679Gln)
c.1936G>C (p.Glu646Gln)
c.1807G>C (p.Glu603Gln)
c.1798G>C (p.Glu600Gln)
c.1603G>C (p.Glu535Gln)
15g.50242319C>TCA392376757HDCc.1930G>A (p.Glu644Lys)
c.1831G>A (p.Glu611Lys)
n.1674G>A
c.1693G>A (p.Glu565Lys)
c.1498G>A (p.Glu500Lys)
c.2035G>A (p.Glu679Lys)
c.1936G>A (p.Glu646Lys)
c.1807G>A (p.Glu603Lys)
c.1798G>A (p.Glu600Lys)
c.1603G>A (p.Glu535Lys)
15g.50242320A=CA2176326549HDCc.1929T= (p.Pro643=)
c.1830T= (p.Pro610=)
n.1673T=
c.1692T= (p.Pro564=)
c.1497T= (p.Pro499=)
c.2034T= (p.Pro678=)
c.1935T= (p.Pro645=)
c.1806T= (p.Pro602=)
c.1797T= (p.Pro599=)
c.1602T= (p.Pro534=)
15g.50242320A>CCA490313891HDCc.1929T>G (p.Pro643=)
c.1830T>G (p.Pro610=)
n.1673T>G
c.1692T>G (p.Pro564=)
c.1497T>G (p.Pro499=)
c.2034T>G (p.Pro678=)
c.1935T>G (p.Pro645=)
c.1806T>G (p.Pro602=)
c.1797T>G (p.Pro599=)
c.1602T>G (p.Pro534=)
15g.50242320A>GCA7554472HDCc.1929T>C (p.Pro643=)
c.1830T>C (p.Pro610=)
n.1673T>C
c.1692T>C (p.Pro564=)
c.1497T>C (p.Pro499=)
c.2034T>C (p.Pro678=)
c.1935T>C (p.Pro645=)
c.1806T>C (p.Pro602=)
c.1797T>C (p.Pro599=)
c.1602T>C (p.Pro534=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242320A>TCA490313894HDCc.1929T>A (p.Pro643=)
c.1830T>A (p.Pro610=)
n.1673T>A
c.1692T>A (p.Pro564=)
c.1497T>A (p.Pro499=)
c.2034T>A (p.Pro678=)
c.1935T>A (p.Pro645=)
c.1806T>A (p.Pro602=)
c.1797T>A (p.Pro599=)
c.1602T>A (p.Pro534=)
15g.50242321G>ACA392376758HDCc.1928C>T (p.Pro643Leu)
c.1829C>T (p.Pro610Leu)
n.1672C>T
c.1691C>T (p.Pro564Leu)
c.1496C>T (p.Pro499Leu)
c.2033C>T (p.Pro678Leu)
c.1934C>T (p.Pro645Leu)
c.1805C>T (p.Pro602Leu)
c.1796C>T (p.Pro599Leu)
c.1601C>T (p.Pro534Leu)
15g.50242321G>CCA392376759HDCc.1928C>G (p.Pro643Arg)
c.1829C>G (p.Pro610Arg)
n.1672C>G
c.1691C>G (p.Pro564Arg)
c.1496C>G (p.Pro499Arg)
c.2033C>G (p.Pro678Arg)
c.1934C>G (p.Pro645Arg)
c.1805C>G (p.Pro602Arg)
c.1796C>G (p.Pro599Arg)
c.1601C>G (p.Pro534Arg)
15g.50242321G>TCA392376760HDCc.1928C>A (p.Pro643His)
c.1829C>A (p.Pro610His)
n.1672C>A
c.1691C>A (p.Pro564His)
c.1496C>A (p.Pro499His)
c.2033C>A (p.Pro678His)
c.1934C>A (p.Pro645His)
c.1805C>A (p.Pro602His)
c.1796C>A (p.Pro599His)
c.1601C>A (p.Pro534His)
15g.50242322G>ACA392376761HDCc.1927C>T (p.Pro643Ser)
c.1828C>T (p.Pro610Ser)
n.1671C>T
c.1690C>T (p.Pro564Ser)
c.1495C>T (p.Pro499Ser)
c.2032C>T (p.Pro678Ser)
c.1933C>T (p.Pro645Ser)
c.1804C>T (p.Pro602Ser)
c.1795C>T (p.Pro599Ser)
c.1600C>T (p.Pro534Ser)
gnomAD v4 COSMIC
15g.50242322G>CCA392376762HDCc.1927C>G (p.Pro643Ala)
c.1828C>G (p.Pro610Ala)
n.1671C>G
c.1690C>G (p.Pro564Ala)
c.1495C>G (p.Pro499Ala)
c.2032C>G (p.Pro678Ala)
c.1933C>G (p.Pro645Ala)
c.1804C>G (p.Pro602Ala)
c.1795C>G (p.Pro599Ala)
c.1600C>G (p.Pro534Ala)
15g.50242322G>TCA392376763HDCc.1927C>A (p.Pro643Thr)
c.1828C>A (p.Pro610Thr)
n.1671C>A
c.1690C>A (p.Pro564Thr)
c.1495C>A (p.Pro499Thr)
c.2032C>A (p.Pro678Thr)
c.1933C>A (p.Pro645Thr)
c.1804C>A (p.Pro602Thr)
c.1795C>A (p.Pro599Thr)
c.1600C>A (p.Pro534Thr)
15g.50242323A>CCA392376764HDCc.1926T>G (p.Phe642Leu)
c.1827T>G (p.Phe609Leu)
n.1670T>G
c.1689T>G (p.Phe563Leu)
c.1494T>G (p.Phe498Leu)
c.2031T>G (p.Phe677Leu)
c.1932T>G (p.Phe644Leu)
c.1803T>G (p.Phe601Leu)
c.1794T>G (p.Phe598Leu)
c.1599T>G (p.Phe533Leu)
15g.50242323A>GCA490313895HDCc.1926T>C (p.Phe642=)
c.1827T>C (p.Phe609=)
n.1670T>C
c.1689T>C (p.Phe563=)
c.1494T>C (p.Phe498=)
c.2031T>C (p.Phe677=)
c.1932T>C (p.Phe644=)
c.1803T>C (p.Phe601=)
c.1794T>C (p.Phe598=)
c.1599T>C (p.Phe533=)
15g.50242323A>TCA392376765HDCc.1926T>A (p.Phe642Leu)
c.1827T>A (p.Phe609Leu)
n.1670T>A
c.1689T>A (p.Phe563Leu)
c.1494T>A (p.Phe498Leu)
c.2031T>A (p.Phe677Leu)
c.1932T>A (p.Phe644Leu)
c.1803T>A (p.Phe601Leu)
c.1794T>A (p.Phe598Leu)
c.1599T>A (p.Phe533Leu)
15g.50242324A>CCA392376766HDCc.1925T>G (p.Phe642Cys)
c.1826T>G (p.Phe609Cys)
n.1669T>G
c.1688T>G (p.Phe563Cys)
c.1493T>G (p.Phe498Cys)
c.2030T>G (p.Phe677Cys)
c.1931T>G (p.Phe644Cys)
c.1802T>G (p.Phe601Cys)
c.1793T>G (p.Phe598Cys)
c.1598T>G (p.Phe533Cys)
15g.50242324A>GCA392376768HDCc.1925T>C (p.Phe642Ser)
c.1826T>C (p.Phe609Ser)
n.1669T>C
c.1688T>C (p.Phe563Ser)
c.1493T>C (p.Phe498Ser)
c.2030T>C (p.Phe677Ser)
c.1931T>C (p.Phe644Ser)
c.1802T>C (p.Phe601Ser)
c.1793T>C (p.Phe598Ser)
c.1598T>C (p.Phe533Ser)
15g.50242324A>TCA392376767HDCc.1925T>A (p.Phe642Tyr)
c.1826T>A (p.Phe609Tyr)
n.1669T>A
c.1688T>A (p.Phe563Tyr)
c.1493T>A (p.Phe498Tyr)
c.2030T>A (p.Phe677Tyr)
c.1931T>A (p.Phe644Tyr)
c.1802T>A (p.Phe601Tyr)
c.1793T>A (p.Phe598Tyr)
c.1598T>A (p.Phe533Tyr)
15g.50242325A>CCA392376769HDCc.1924T>G (p.Phe642Val)
c.1825T>G (p.Phe609Val)
n.1668T>G
c.1687T>G (p.Phe563Val)
c.1492T>G (p.Phe498Val)
c.2029T>G (p.Phe677Val)
c.1930T>G (p.Phe644Val)
c.1801T>G (p.Phe601Val)
c.1792T>G (p.Phe598Val)
c.1597T>G (p.Phe533Val)
15g.50242325A>GCA392376770HDCc.1924T>C (p.Phe642Leu)
c.1825T>C (p.Phe609Leu)
n.1668T>C
c.1687T>C (p.Phe563Leu)
c.1492T>C (p.Phe498Leu)
c.2029T>C (p.Phe677Leu)
c.1930T>C (p.Phe644Leu)
c.1801T>C (p.Phe601Leu)
c.1792T>C (p.Phe598Leu)
c.1597T>C (p.Phe533Leu)
15g.50242325A>TCA392376771HDCc.1924T>A (p.Phe642Ile)
c.1825T>A (p.Phe609Ile)
n.1668T>A
c.1687T>A (p.Phe563Ile)
c.1492T>A (p.Phe498Ile)
c.2029T>A (p.Phe677Ile)
c.1930T>A (p.Phe644Ile)
c.1801T>A (p.Phe601Ile)
c.1792T>A (p.Phe598Ile)
c.1597T>A (p.Phe533Ile)
15g.50242326G>ACA7554473HDCc.1923C>T (p.Ser641=)
c.1824C>T (p.Ser608=)
n.1667C>T
c.1686C>T (p.Ser562=)
c.1491C>T (p.Ser497=)
c.2028C>T (p.Ser676=)
c.1929C>T (p.Ser643=)
c.1800C>T (p.Ser600=)
c.1791C>T (p.Ser597=)
c.1596C>T (p.Ser532=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242326G>CCA392376772HDCc.1923C>G (p.Ser641Arg)
c.1824C>G (p.Ser608Arg)
n.1667C>G
c.1686C>G (p.Ser562Arg)
c.1491C>G (p.Ser497Arg)
c.2028C>G (p.Ser676Arg)
c.1929C>G (p.Ser643Arg)
c.1800C>G (p.Ser600Arg)
c.1791C>G (p.Ser597Arg)
c.1596C>G (p.Ser532Arg)
15g.50242326G=CA2176326550HDCc.1923C= (p.Ser641=)
c.1824C= (p.Ser608=)
n.1667C=
c.1686C= (p.Ser562=)
c.1491C= (p.Ser497=)
c.2028C= (p.Ser676=)
c.1929C= (p.Ser643=)
c.1800C= (p.Ser600=)
c.1791C= (p.Ser597=)
c.1596C= (p.Ser532=)
15g.50242326G>TCA392376773HDCc.1923C>A (p.Ser641Arg)
c.1824C>A (p.Ser608Arg)
n.1667C>A
c.1686C>A (p.Ser562Arg)
c.1491C>A (p.Ser497Arg)
c.2028C>A (p.Ser676Arg)
c.1929C>A (p.Ser643Arg)
c.1800C>A (p.Ser600Arg)
c.1791C>A (p.Ser597Arg)
c.1596C>A (p.Ser532Arg)
gnomAD v4
15g.50242327C>ACA392376774HDCc.1922G>T (p.Ser641Ile)
c.1823G>T (p.Ser608Ile)
n.1666G>T
c.1685G>T (p.Ser562Ile)
c.1490G>T (p.Ser497Ile)
c.2027G>T (p.Ser676Ile)
c.1928G>T (p.Ser643Ile)
c.1799G>T (p.Ser600Ile)
c.1790G>T (p.Ser597Ile)
c.1595G>T (p.Ser532Ile)
15g.50242327C>GCA392376775HDCc.1922G>C (p.Ser641Thr)
c.1823G>C (p.Ser608Thr)
n.1666G>C
c.1685G>C (p.Ser562Thr)
c.1490G>C (p.Ser497Thr)
c.2027G>C (p.Ser676Thr)
c.1928G>C (p.Ser643Thr)
c.1799G>C (p.Ser600Thr)
c.1790G>C (p.Ser597Thr)
c.1595G>C (p.Ser532Thr)
15g.50242327C>TCA392376776HDCc.1922G>A (p.Ser641Asn)
c.1823G>A (p.Ser608Asn)
n.1666G>A
c.1685G>A (p.Ser562Asn)
c.1490G>A (p.Ser497Asn)
c.2027G>A (p.Ser676Asn)
c.1928G>A (p.Ser643Asn)
c.1799G>A (p.Ser600Asn)
c.1790G>A (p.Ser597Asn)
c.1595G>A (p.Ser532Asn)
15g.50242328T>ACA392376778HDCc.1921A>T (p.Ser641Cys)
c.1822A>T (p.Ser608Cys)
n.1665A>T
c.1684A>T (p.Ser562Cys)
c.1489A>T (p.Ser497Cys)
c.2026A>T (p.Ser676Cys)
c.1927A>T (p.Ser643Cys)
c.1798A>T (p.Ser600Cys)
c.1789A>T (p.Ser597Cys)
c.1594A>T (p.Ser532Cys)
15g.50242328T>CCA392376779HDCc.1921A>G (p.Ser641Gly)
c.1822A>G (p.Ser608Gly)
n.1665A>G
c.1684A>G (p.Ser562Gly)
c.1489A>G (p.Ser497Gly)
c.2026A>G (p.Ser676Gly)
c.1927A>G (p.Ser643Gly)
c.1798A>G (p.Ser600Gly)
c.1789A>G (p.Ser597Gly)
c.1594A>G (p.Ser532Gly)
15g.50242328T>GCA392376777HDCc.1921A>C (p.Ser641Arg)
c.1822A>C (p.Ser608Arg)
n.1665A>C
c.1684A>C (p.Ser562Arg)
c.1489A>C (p.Ser497Arg)
c.2026A>C (p.Ser676Arg)
c.1927A>C (p.Ser643Arg)
c.1798A>C (p.Ser600Arg)
c.1789A>C (p.Ser597Arg)
c.1594A>C (p.Ser532Arg)
15g.50242329G>ACA490313906HDCc.1920C>T (p.Pro640=)
c.1821C>T (p.Pro607=)
n.1664C>T
c.1683C>T (p.Pro561=)
c.1488C>T (p.Pro496=)
c.2025C>T (p.Pro675=)
c.1926C>T (p.Pro642=)
c.1797C>T (p.Pro599=)
c.1788C>T (p.Pro596=)
c.1593C>T (p.Pro531=)
15g.50242329G>CCA490313907HDCc.1920C>G (p.Pro640=)
c.1821C>G (p.Pro607=)
n.1664C>G
c.1683C>G (p.Pro561=)
c.1488C>G (p.Pro496=)
c.2025C>G (p.Pro675=)
c.1926C>G (p.Pro642=)
c.1797C>G (p.Pro599=)
c.1788C>G (p.Pro596=)
c.1593C>G (p.Pro531=)
15g.50242329G>TCA490313908HDCc.1920C>A (p.Pro640=)
c.1821C>A (p.Pro607=)
n.1664C>A
c.1683C>A (p.Pro561=)
c.1488C>A (p.Pro496=)
c.2025C>A (p.Pro675=)
c.1926C>A (p.Pro642=)
c.1797C>A (p.Pro599=)
c.1788C>A (p.Pro596=)
c.1593C>A (p.Pro531=)
15g.50242330G>ACA7554474HDCc.1919C>T (p.Pro640Leu)
c.1820C>T (p.Pro607Leu)
n.1663C>T
c.1682C>T (p.Pro561Leu)
c.1487C>T (p.Pro496Leu)
c.2024C>T (p.Pro675Leu)
c.1925C>T (p.Pro642Leu)
c.1796C>T (p.Pro599Leu)
c.1787C>T (p.Pro596Leu)
c.1592C>T (p.Pro531Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242330G>CCA392376780HDCc.1919C>G (p.Pro640Arg)
c.1820C>G (p.Pro607Arg)
n.1663C>G
c.1682C>G (p.Pro561Arg)
c.1487C>G (p.Pro496Arg)
c.2024C>G (p.Pro675Arg)
c.1925C>G (p.Pro642Arg)
c.1796C>G (p.Pro599Arg)
c.1787C>G (p.Pro596Arg)
c.1592C>G (p.Pro531Arg)
dbSNP gnomAD v2 gnomAD v4
15g.50242330G=CA2176326551HDCc.1919C= (p.Pro640=)
c.1820C= (p.Pro607=)
n.1663C=
c.1682C= (p.Pro561=)
c.1487C= (p.Pro496=)
c.2024C= (p.Pro675=)
c.1925C= (p.Pro642=)
c.1796C= (p.Pro599=)
c.1787C= (p.Pro596=)
c.1592C= (p.Pro531=)
15g.50242330G>TCA392376781HDCc.1919C>A (p.Pro640His)
c.1820C>A (p.Pro607His)
n.1663C>A
c.1682C>A (p.Pro561His)
c.1487C>A (p.Pro496His)
c.2024C>A (p.Pro675His)
c.1925C>A (p.Pro642His)
c.1796C>A (p.Pro599His)
c.1787C>A (p.Pro596His)
c.1592C>A (p.Pro531His)
15g.50242331G>ACA392376782HDCc.1918C>T (p.Pro640Ser)
c.1819C>T (p.Pro607Ser)
n.1662C>T
c.1681C>T (p.Pro561Ser)
c.1486C>T (p.Pro496Ser)
c.2023C>T (p.Pro675Ser)
c.1924C>T (p.Pro642Ser)
c.1795C>T (p.Pro599Ser)
c.1786C>T (p.Pro596Ser)
c.1591C>T (p.Pro531Ser)
15g.50242331G>CCA392376783HDCc.1918C>G (p.Pro640Ala)
c.1819C>G (p.Pro607Ala)
n.1662C>G
c.1681C>G (p.Pro561Ala)
c.1486C>G (p.Pro496Ala)
c.2023C>G (p.Pro675Ala)
c.1924C>G (p.Pro642Ala)
c.1795C>G (p.Pro599Ala)
c.1786C>G (p.Pro596Ala)
c.1591C>G (p.Pro531Ala)
15g.50242331G>TCA392376784HDCc.1918C>A (p.Pro640Thr)
c.1819C>A (p.Pro607Thr)
n.1662C>A
c.1681C>A (p.Pro561Thr)
c.1486C>A (p.Pro496Thr)
c.2023C>A (p.Pro675Thr)
c.1924C>A (p.Pro642Thr)
c.1795C>A (p.Pro599Thr)
c.1786C>A (p.Pro596Thr)
c.1591C>A (p.Pro531Thr)
15g.50242332G>ACA490313909HDCc.1917C>T (p.Val639=)
c.1818C>T (p.Val606=)
n.1661C>T
c.1680C>T (p.Val560=)
c.1485C>T (p.Val495=)
c.2022C>T (p.Val674=)
c.1923C>T (p.Val641=)
c.1794C>T (p.Val598=)
c.1785C>T (p.Val595=)
c.1590C>T (p.Val530=)
15g.50242332G>CCA490313913HDCc.1917C>G (p.Val639=)
c.1818C>G (p.Val606=)
n.1661C>G
c.1680C>G (p.Val560=)
c.1485C>G (p.Val495=)
c.2022C>G (p.Val674=)
c.1923C>G (p.Val641=)
c.1794C>G (p.Val598=)
c.1785C>G (p.Val595=)
c.1590C>G (p.Val530=)
15g.50242332G>TCA490313911HDCc.1917C>A (p.Val639=)
c.1818C>A (p.Val606=)
n.1661C>A
c.1680C>A (p.Val560=)
c.1485C>A (p.Val495=)
c.2022C>A (p.Val674=)
c.1923C>A (p.Val641=)
c.1794C>A (p.Val598=)
c.1785C>A (p.Val595=)
c.1590C>A (p.Val530=)
gnomAD v4 COSMIC
15g.50242333A>CCA392376785HDCc.1916T>G (p.Val639Gly)
c.1817T>G (p.Val606Gly)
n.1660T>G
c.1679T>G (p.Val560Gly)
c.1484T>G (p.Val495Gly)
c.2021T>G (p.Val674Gly)
c.1922T>G (p.Val641Gly)
c.1793T>G (p.Val598Gly)
c.1784T>G (p.Val595Gly)
c.1589T>G (p.Val530Gly)
15g.50242333A>GCA392376786HDCc.1916T>C (p.Val639Ala)
c.1817T>C (p.Val606Ala)
n.1660T>C
c.1679T>C (p.Val560Ala)
c.1484T>C (p.Val495Ala)
c.2021T>C (p.Val674Ala)
c.1922T>C (p.Val641Ala)
c.1793T>C (p.Val598Ala)
c.1784T>C (p.Val595Ala)
c.1589T>C (p.Val530Ala)
15g.50242333A>TCA392376787HDCc.1916T>A (p.Val639Asp)
c.1817T>A (p.Val606Asp)
n.1660T>A
c.1679T>A (p.Val560Asp)
c.1484T>A (p.Val495Asp)
c.2021T>A (p.Val674Asp)
c.1922T>A (p.Val641Asp)
c.1793T>A (p.Val598Asp)
c.1784T>A (p.Val595Asp)
c.1589T>A (p.Val530Asp)
15g.50242334C>ACA392376788HDCc.1915G>T (p.Val639Phe)
c.1816G>T (p.Val606Phe)
n.1659G>T
c.1678G>T (p.Val560Phe)
c.1483G>T (p.Val495Phe)
c.2020G>T (p.Val674Phe)
c.1921G>T (p.Val641Phe)
c.1792G>T (p.Val598Phe)
c.1783G>T (p.Val595Phe)
c.1588G>T (p.Val530Phe)
COSMIC
15g.50242334C=CA2176326552HDCc.1915G= (p.Val639=)
c.1816G= (p.Val606=)
n.1659G=
c.1678G= (p.Val560=)
c.1483G= (p.Val495=)
c.2020G= (p.Val674=)
c.1921G= (p.Val641=)
c.1792G= (p.Val598=)
c.1783G= (p.Val595=)
c.1588G= (p.Val530=)
15g.50242334C>GCA392376789HDCc.1915G>C (p.Val639Leu)
c.1816G>C (p.Val606Leu)
n.1659G>C
c.1678G>C (p.Val560Leu)
c.1483G>C (p.Val495Leu)
c.2020G>C (p.Val674Leu)
c.1921G>C (p.Val641Leu)
c.1792G>C (p.Val598Leu)
c.1783G>C (p.Val595Leu)
c.1588G>C (p.Val530Leu)
15g.50242334C>TCA7554475HDCc.1915G>A (p.Val639Ile)
c.1816G>A (p.Val606Ile)
n.1659G>A
c.1678G>A (p.Val560Ile)
c.1483G>A (p.Val495Ile)
c.2020G>A (p.Val674Ile)
c.1921G>A (p.Val641Ile)
c.1792G>A (p.Val598Ile)
c.1783G>A (p.Val595Ile)
c.1588G>A (p.Val530Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242335G>ACA490313917HDCc.1914C>T (p.Ser638=)
c.1815C>T (p.Ser605=)
n.1658C>T
c.1677C>T (p.Ser559=)
c.1482C>T (p.Ser494=)
c.2019C>T (p.Ser673=)
c.1920C>T (p.Ser640=)
c.1791C>T (p.Ser597=)
c.1782C>T (p.Ser594=)
c.1587C>T (p.Ser529=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50242335G>CCA392376791HDCc.1914C>G (p.Ser638Arg)
c.1815C>G (p.Ser605Arg)
n.1658C>G
c.1677C>G (p.Ser559Arg)
c.1482C>G (p.Ser494Arg)
c.2019C>G (p.Ser673Arg)
c.1920C>G (p.Ser640Arg)
c.1791C>G (p.Ser597Arg)
c.1782C>G (p.Ser594Arg)
c.1587C>G (p.Ser529Arg)
15g.50242335G=CA2176326553HDCc.1914C= (p.Ser638=)
c.1815C= (p.Ser605=)
n.1658C=
c.1677C= (p.Ser559=)
c.1482C= (p.Ser494=)
c.2019C= (p.Ser673=)
c.1920C= (p.Ser640=)
c.1791C= (p.Ser597=)
c.1782C= (p.Ser594=)
c.1587C= (p.Ser529=)
15g.50242335G>TCA392376790HDCc.1914C>A (p.Ser638Arg)
c.1815C>A (p.Ser605Arg)
n.1658C>A
c.1677C>A (p.Ser559Arg)
c.1482C>A (p.Ser494Arg)
c.2019C>A (p.Ser673Arg)
c.1920C>A (p.Ser640Arg)
c.1791C>A (p.Ser597Arg)
c.1782C>A (p.Ser594Arg)
c.1587C>A (p.Ser529Arg)
15g.50242336C>ACA392376792HDCc.1913G>T (p.Ser638Ile)
c.1814G>T (p.Ser605Ile)
n.1657G>T
c.1676G>T (p.Ser559Ile)
c.1481G>T (p.Ser494Ile)
c.2018G>T (p.Ser673Ile)
c.1919G>T (p.Ser640Ile)
c.1790G>T (p.Ser597Ile)
c.1781G>T (p.Ser594Ile)
c.1586G>T (p.Ser529Ile)
15g.50242336C=CA2176326554HDCc.1913G= (p.Ser638=)
c.1814G= (p.Ser605=)
n.1657G=
c.1676G= (p.Ser559=)
c.1481G= (p.Ser494=)
c.2018G= (p.Ser673=)
c.1919G= (p.Ser640=)
c.1790G= (p.Ser597=)
c.1781G= (p.Ser594=)
c.1586G= (p.Ser529=)
15g.50242336C>GCA392376793HDCc.1913G>C (p.Ser638Thr)
c.1814G>C (p.Ser605Thr)
n.1657G>C
c.1676G>C (p.Ser559Thr)
c.1481G>C (p.Ser494Thr)
c.2018G>C (p.Ser673Thr)
c.1919G>C (p.Ser640Thr)
c.1790G>C (p.Ser597Thr)
c.1781G>C (p.Ser594Thr)
c.1586G>C (p.Ser529Thr)
15g.50242336C>TCA392376794HDCc.1913G>A (p.Ser638Asn)
c.1814G>A (p.Ser605Asn)
n.1657G>A
c.1676G>A (p.Ser559Asn)
c.1481G>A (p.Ser494Asn)
c.2018G>A (p.Ser673Asn)
c.1919G>A (p.Ser640Asn)
c.1790G>A (p.Ser597Asn)
c.1781G>A (p.Ser594Asn)
c.1586G>A (p.Ser529Asn)
dbSNP
15g.50242336_50242337insAGAGCATGGACTGGGTTTTGGCCCTCACTCA2804113957HDCc.1912_1913insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser638LysfsTer2)
c.1813_1814insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser605LysfsTer2)
n.1656_1657insAGTGAGGGCCAAAACCCAGTCCATGCTCT
c.1675_1676insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser559LysfsTer2)
c.1480_1481insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser494LysfsTer2)
c.2017_2018insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser673LysfsTer2)
c.1918_1919insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser640LysfsTer2)
c.1789_1790insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser597LysfsTer2)
c.1780_1781insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser594LysfsTer2)
c.1585_1586insAGTGAGGGCCAAAACCCAGTCCATGCTCT (p.Ser529LysfsTer2)
15g.50242337T>ACA392376795HDCc.1912A>T (p.Ser638Cys)
c.1813A>T (p.Ser605Cys)
n.1656A>T
c.1675A>T (p.Ser559Cys)
c.1480A>T (p.Ser494Cys)
c.2017A>T (p.Ser673Cys)
c.1918A>T (p.Ser640Cys)
c.1789A>T (p.Ser597Cys)
c.1780A>T (p.Ser594Cys)
c.1585A>T (p.Ser529Cys)
15g.50242337T>CCA392376796HDCc.1912A>G (p.Ser638Gly)
c.1813A>G (p.Ser605Gly)
n.1656A>G
c.1675A>G (p.Ser559Gly)
c.1480A>G (p.Ser494Gly)
c.2017A>G (p.Ser673Gly)
c.1918A>G (p.Ser640Gly)
c.1789A>G (p.Ser597Gly)
c.1780A>G (p.Ser594Gly)
c.1585A>G (p.Ser529Gly)
gnomAD v4
15g.50242337T>GCA392376797HDCc.1912A>C (p.Ser638Arg)
c.1813A>C (p.Ser605Arg)
n.1656A>C
c.1675A>C (p.Ser559Arg)
c.1480A>C (p.Ser494Arg)
c.2017A>C (p.Ser673Arg)
c.1918A>C (p.Ser640Arg)
c.1789A>C (p.Ser597Arg)
c.1780A>C (p.Ser594Arg)
c.1585A>C (p.Ser529Arg)
15g.50242338G>ACA490313918HDCc.1911C>T (p.Tyr637=)
c.1812C>T (p.Tyr604=)
n.1655C>T
c.1674C>T (p.Tyr558=)
c.1479C>T (p.Tyr493=)
c.2016C>T (p.Tyr672=)
c.1917C>T (p.Tyr639=)
c.1788C>T (p.Tyr596=)
c.1779C>T (p.Tyr593=)
c.1584C>T (p.Tyr528=)
15g.50242338G>CCA392376798HDCc.1911C>G (p.Tyr637Ter)
c.1812C>G (p.Tyr604Ter)
n.1655C>G
c.1674C>G (p.Tyr558Ter)
c.1479C>G (p.Tyr493Ter)
c.2016C>G (p.Tyr672Ter)
c.1917C>G (p.Tyr639Ter)
c.1788C>G (p.Tyr596Ter)
c.1779C>G (p.Tyr593Ter)
c.1584C>G (p.Tyr528Ter)
15g.50242338G>TCA392376799HDCc.1911C>A (p.Tyr637Ter)
c.1812C>A (p.Tyr604Ter)
n.1655C>A
c.1674C>A (p.Tyr558Ter)
c.1479C>A (p.Tyr493Ter)
c.2016C>A (p.Tyr672Ter)
c.1917C>A (p.Tyr639Ter)
c.1788C>A (p.Tyr596Ter)
c.1779C>A (p.Tyr593Ter)
c.1584C>A (p.Tyr528Ter)
15g.50242339T>ACA392376800HDCc.1910A>T (p.Tyr637Phe)
c.1811A>T (p.Tyr604Phe)
n.1654A>T
c.1673A>T (p.Tyr558Phe)
c.1478A>T (p.Tyr493Phe)
c.2015A>T (p.Tyr672Phe)
c.1916A>T (p.Tyr639Phe)
c.1787A>T (p.Tyr596Phe)
c.1778A>T (p.Tyr593Phe)
c.1583A>T (p.Tyr528Phe)
15g.50242339T>CCA392376801HDCc.1910A>G (p.Tyr637Cys)
c.1811A>G (p.Tyr604Cys)
n.1654A>G
c.1673A>G (p.Tyr558Cys)
c.1478A>G (p.Tyr493Cys)
c.2015A>G (p.Tyr672Cys)
c.1916A>G (p.Tyr639Cys)
c.1787A>G (p.Tyr596Cys)
c.1778A>G (p.Tyr593Cys)
c.1583A>G (p.Tyr528Cys)
gnomAD v4
15g.50242339T>GCA392376802HDCc.1910A>C (p.Tyr637Ser)
c.1811A>C (p.Tyr604Ser)
n.1654A>C
c.1673A>C (p.Tyr558Ser)
c.1478A>C (p.Tyr493Ser)
c.2015A>C (p.Tyr672Ser)
c.1916A>C (p.Tyr639Ser)
c.1787A>C (p.Tyr596Ser)
c.1778A>C (p.Tyr593Ser)
c.1583A>C (p.Tyr528Ser)
15g.50242340A>CCA392376803HDCc.1909T>G (p.Tyr637Asp)
c.1810T>G (p.Tyr604Asp)
n.1653T>G
c.1672T>G (p.Tyr558Asp)
c.1477T>G (p.Tyr493Asp)
c.2014T>G (p.Tyr672Asp)
c.1915T>G (p.Tyr639Asp)
c.1786T>G (p.Tyr596Asp)
c.1777T>G (p.Tyr593Asp)
c.1582T>G (p.Tyr528Asp)
15g.50242340A>GCA392376804HDCc.1909T>C (p.Tyr637His)
c.1810T>C (p.Tyr604His)
n.1653T>C
c.1672T>C (p.Tyr558His)
c.1477T>C (p.Tyr493His)
c.2014T>C (p.Tyr672His)
c.1915T>C (p.Tyr639His)
c.1786T>C (p.Tyr596His)
c.1777T>C (p.Tyr593His)
c.1582T>C (p.Tyr528His)
15g.50242340A>TCA392376805HDCc.1909T>A (p.Tyr637Asn)
c.1810T>A (p.Tyr604Asn)
n.1653T>A
c.1672T>A (p.Tyr558Asn)
c.1477T>A (p.Tyr493Asn)
c.2014T>A (p.Tyr672Asn)
c.1915T>A (p.Tyr639Asn)
c.1786T>A (p.Tyr596Asn)
c.1777T>A (p.Tyr593Asn)
c.1582T>A (p.Tyr528Asn)
15g.50242341G>ACA490313920HDCc.1908C>T (p.Phe636=)
c.1809C>T (p.Phe603=)
n.1652C>T
c.1671C>T (p.Phe557=)
c.1476C>T (p.Phe492=)
c.2013C>T (p.Phe671=)
c.1914C>T (p.Phe638=)
c.1785C>T (p.Phe595=)
c.1776C>T (p.Phe592=)
c.1581C>T (p.Phe527=)
gnomAD v4
15g.50242341G>CCA392376807HDCc.1908C>G (p.Phe636Leu)
c.1809C>G (p.Phe603Leu)
n.1652C>G
c.1671C>G (p.Phe557Leu)
c.1476C>G (p.Phe492Leu)
c.2013C>G (p.Phe671Leu)
c.1914C>G (p.Phe638Leu)
c.1785C>G (p.Phe595Leu)
c.1776C>G (p.Phe592Leu)
c.1581C>G (p.Phe527Leu)
dbSNP gnomAD v4
15g.50242341G=CA2176326555HDCc.1908C= (p.Phe636=)
c.1809C= (p.Phe603=)
n.1652C=
c.1671C= (p.Phe557=)
c.1476C= (p.Phe492=)
c.2013C= (p.Phe671=)
c.1914C= (p.Phe638=)
c.1785C= (p.Phe595=)
c.1776C= (p.Phe592=)
c.1581C= (p.Phe527=)
15g.50242341G>TCA392376806HDCc.1908C>A (p.Phe636Leu)
c.1809C>A (p.Phe603Leu)
n.1652C>A
c.1671C>A (p.Phe557Leu)
c.1476C>A (p.Phe492Leu)
c.2013C>A (p.Phe671Leu)
c.1914C>A (p.Phe638Leu)
c.1785C>A (p.Phe595Leu)
c.1776C>A (p.Phe592Leu)
c.1581C>A (p.Phe527Leu)
dbSNP gnomAD v2
15g.50242342A>CCA392376808HDCc.1907T>G (p.Phe636Cys)
c.1808T>G (p.Phe603Cys)
n.1651T>G
c.1670T>G (p.Phe557Cys)
c.1475T>G (p.Phe492Cys)
c.2012T>G (p.Phe671Cys)
c.1913T>G (p.Phe638Cys)
c.1784T>G (p.Phe595Cys)
c.1775T>G (p.Phe592Cys)
c.1580T>G (p.Phe527Cys)
15g.50242342A>GCA392376810HDCc.1907T>C (p.Phe636Ser)
c.1808T>C (p.Phe603Ser)
n.1651T>C
c.1670T>C (p.Phe557Ser)
c.1475T>C (p.Phe492Ser)
c.2012T>C (p.Phe671Ser)
c.1913T>C (p.Phe638Ser)
c.1784T>C (p.Phe595Ser)
c.1775T>C (p.Phe592Ser)
c.1580T>C (p.Phe527Ser)
15g.50242342A>TCA392376809HDCc.1907T>A (p.Phe636Tyr)
c.1808T>A (p.Phe603Tyr)
n.1651T>A
c.1670T>A (p.Phe557Tyr)
c.1475T>A (p.Phe492Tyr)
c.2012T>A (p.Phe671Tyr)
c.1913T>A (p.Phe638Tyr)
c.1784T>A (p.Phe595Tyr)
c.1775T>A (p.Phe592Tyr)
c.1580T>A (p.Phe527Tyr)
15g.50242343A>CCA392376811HDCc.1906T>G (p.Phe636Val)
c.1807T>G (p.Phe603Val)
n.1650T>G
c.1669T>G (p.Phe557Val)
c.1474T>G (p.Phe492Val)
c.2011T>G (p.Phe671Val)
c.1912T>G (p.Phe638Val)
c.1783T>G (p.Phe595Val)
c.1774T>G (p.Phe592Val)
c.1579T>G (p.Phe527Val)
15g.50242343A>GCA392376812HDCc.1906T>C (p.Phe636Leu)
c.1807T>C (p.Phe603Leu)
n.1650T>C
c.1669T>C (p.Phe557Leu)
c.1474T>C (p.Phe492Leu)
c.2011T>C (p.Phe671Leu)
c.1912T>C (p.Phe638Leu)
c.1783T>C (p.Phe595Leu)
c.1774T>C (p.Phe592Leu)
c.1579T>C (p.Phe527Leu)
15g.50242343A>TCA392376813HDCc.1906T>A (p.Phe636Ile)
c.1807T>A (p.Phe603Ile)
n.1650T>A
c.1669T>A (p.Phe557Ile)
c.1474T>A (p.Phe492Ile)
c.2011T>A (p.Phe671Ile)
c.1912T>A (p.Phe638Ile)
c.1783T>A (p.Phe595Ile)
c.1774T>A (p.Phe592Ile)
c.1579T>A (p.Phe527Ile)
15g.50242344T>ACA392376814HDCc.1905A>T (p.Lys635Asn)
c.1806A>T (p.Lys602Asn)
n.1649A>T
c.1668A>T (p.Lys556Asn)
c.1473A>T (p.Lys491Asn)
c.2010A>T (p.Lys670Asn)
c.1911A>T (p.Lys637Asn)
c.1782A>T (p.Lys594Asn)
c.1773A>T (p.Lys591Asn)
c.1578A>T (p.Lys526Asn)
15g.50242344T>CCA490313927HDCc.1905A>G (p.Lys635=)
c.1806A>G (p.Lys602=)
n.1649A>G
c.1668A>G (p.Lys556=)
c.1473A>G (p.Lys491=)
c.2010A>G (p.Lys670=)
c.1911A>G (p.Lys637=)
c.1782A>G (p.Lys594=)
c.1773A>G (p.Lys591=)
c.1578A>G (p.Lys526=)
15g.50242344T>GCA392376815HDCc.1905A>C (p.Lys635Asn)
c.1806A>C (p.Lys602Asn)
n.1649A>C
c.1668A>C (p.Lys556Asn)
c.1473A>C (p.Lys491Asn)
c.2010A>C (p.Lys670Asn)
c.1911A>C (p.Lys637Asn)
c.1782A>C (p.Lys594Asn)
c.1773A>C (p.Lys591Asn)
c.1578A>C (p.Lys526Asn)
15g.50242345T>ACA392376816HDCc.1904A>T (p.Lys635Ile)
c.1805A>T (p.Lys602Ile)
n.1648A>T
c.1667A>T (p.Lys556Ile)
c.1472A>T (p.Lys491Ile)
c.2009A>T (p.Lys670Ile)
c.1910A>T (p.Lys637Ile)
c.1781A>T (p.Lys594Ile)
c.1772A>T (p.Lys591Ile)
c.1577A>T (p.Lys526Ile)
15g.50242345T>CCA392376817HDCc.1904A>G (p.Lys635Arg)
c.1805A>G (p.Lys602Arg)
n.1648A>G
c.1667A>G (p.Lys556Arg)
c.1472A>G (p.Lys491Arg)
c.2009A>G (p.Lys670Arg)
c.1910A>G (p.Lys637Arg)
c.1781A>G (p.Lys594Arg)
c.1772A>G (p.Lys591Arg)
c.1577A>G (p.Lys526Arg)
15g.50242345T>GCA392376818HDCc.1904A>C (p.Lys635Thr)
c.1805A>C (p.Lys602Thr)
n.1648A>C
c.1667A>C (p.Lys556Thr)
c.1472A>C (p.Lys491Thr)
c.2009A>C (p.Lys670Thr)
c.1910A>C (p.Lys637Thr)
c.1781A>C (p.Lys594Thr)
c.1772A>C (p.Lys591Thr)
c.1577A>C (p.Lys526Thr)
15g.50242346T>ACA392376819HDCc.1903A>T (p.Lys635Ter)
c.1804A>T (p.Lys602Ter)
n.1647A>T
c.1666A>T (p.Lys556Ter)
c.1471A>T (p.Lys491Ter)
c.2008A>T (p.Lys670Ter)
c.1909A>T (p.Lys637Ter)
c.1780A>T (p.Lys594Ter)
c.1771A>T (p.Lys591Ter)
c.1576A>T (p.Lys526Ter)
15g.50242346T>CCA392376820HDCc.1903A>G (p.Lys635Glu)
c.1804A>G (p.Lys602Glu)
n.1647A>G
c.1666A>G (p.Lys556Glu)
c.1471A>G (p.Lys491Glu)
c.2008A>G (p.Lys670Glu)
c.1909A>G (p.Lys637Glu)
c.1780A>G (p.Lys594Glu)
c.1771A>G (p.Lys591Glu)
c.1576A>G (p.Lys526Glu)
15g.50242346T>GCA392376821HDCc.1903A>C (p.Lys635Gln)
c.1804A>C (p.Lys602Gln)
n.1647A>C
c.1666A>C (p.Lys556Gln)
c.1471A>C (p.Lys491Gln)
c.2008A>C (p.Lys670Gln)
c.1909A>C (p.Lys637Gln)
c.1780A>C (p.Lys594Gln)
c.1771A>C (p.Lys591Gln)
c.1576A>C (p.Lys526Gln)
15g.50242347G>ACA490313929HDCc.1902C>T (p.Ile634=)
c.1803C>T (p.Ile601=)
n.1646C>T
c.1665C>T (p.Ile555=)
c.1470C>T (p.Ile490=)
c.2007C>T (p.Ile669=)
c.1908C>T (p.Ile636=)
c.1779C>T (p.Ile593=)
c.1770C>T (p.Ile590=)
c.1575C>T (p.Ile525=)
gnomAD v4
15g.50242347G>CCA392376822HDCc.1902C>G (p.Ile634Met)
c.1803C>G (p.Ile601Met)
n.1646C>G
c.1665C>G (p.Ile555Met)
c.1470C>G (p.Ile490Met)
c.2007C>G (p.Ile669Met)
c.1908C>G (p.Ile636Met)
c.1779C>G (p.Ile593Met)
c.1770C>G (p.Ile590Met)
c.1575C>G (p.Ile525Met)
15g.50242347G>TCA490313928HDCc.1902C>A (p.Ile634=)
c.1803C>A (p.Ile601=)
n.1646C>A
c.1665C>A (p.Ile555=)
c.1470C>A (p.Ile490=)
c.2007C>A (p.Ile669=)
c.1908C>A (p.Ile636=)
c.1779C>A (p.Ile593=)
c.1770C>A (p.Ile590=)
c.1575C>A (p.Ile525=)

Number of alleles fetched