Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.6301590G>ACA356176860WFS1c.1831G>A (p.Val611Ile)
c.1772G>A
c.1795G>A (p.Val599Ile)
c.1546G>A (p.Val516Ile)
c.1454G>A (n.1454G>A)
n.1980G>A
c.1804G>A (p.Val602Ile)
4g.6301590G>CCA356176861WFS1c.1831G>C (p.Val611Leu)
c.1772G>C
c.1795G>C (p.Val599Leu)
c.1546G>C (p.Val516Leu)
c.1454G>C (n.1454G>C)
n.1980G>C
c.1804G>C (p.Val602Leu)
gnomAD v4
4g.6301590G>TCA356176862WFS1c.1831G>T (p.Val611Phe)
c.1772G>T
c.1795G>T (p.Val599Phe)
c.1546G>T (p.Val516Phe)
c.1454G>T (n.1454G>T)
n.1980G>T
c.1804G>T (p.Val602Phe)
gnomAD v4
4g.6301591T>ACA356176864WFS1c.1832T>A (p.Val611Asp)
c.1773T>A
c.1796T>A (p.Val599Asp)
c.1547T>A (p.Val516Asp)
c.1455T>A (n.1455T>A)
n.1981T>A
c.1805T>A (p.Val602Asp)
4g.6301591T>CCA356176863WFS1c.1832T>C (p.Val611Ala)
c.1773T>C
c.1796T>C (p.Val599Ala)
c.1547T>C (p.Val516Ala)
c.1455T>C (n.1455T>C)
n.1981T>C
c.1805T>C (p.Val602Ala)
4g.6301591T>GCA2839496WFS1c.1832T>G (p.Val611Gly)
c.1773T>G
c.1796T>G (p.Val599Gly)
c.1547T>G (p.Val516Gly)
c.1455T>G (n.1455T>G)
n.1981T>G
c.1805T>G (p.Val602Gly)
dbSNP ExAC gnomAD v3 gnomAD v4
4g.6301591T=CA1435774115WFS1c.1832T= (p.Val611=)
c.1773T=
c.1796T= (p.Val599=)
c.1547T= (p.Val516=)
c.1455T= (n.1455T=)
n.1981T=
c.1805T= (p.Val602=)
4g.6301592C>ACA295797WFS1c.1833C>A (p.Val611=)
c.1774C>A
c.1797C>A (p.Val599=)
c.1548C>A (p.Val516=)
c.1456C>A (n.1456C>A)
n.1982C>A
c.1806C>A (p.Val602=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301592C=CA1435774120WFS1c.1833C= (p.Val611=)
c.1774C=
c.1797C= (p.Val599=)
c.1548C= (p.Val516=)
c.1456C= (n.1456C=)
n.1982C=
c.1806C= (p.Val602=)
4g.6301592C>GCA438368394WFS1c.1833C>G (p.Val611=)
c.1774C>G
c.1797C>G (p.Val599=)
c.1548C>G (p.Val516=)
c.1456C>G (n.1456C>G)
n.1982C>G
c.1806C>G (p.Val602=)
4g.6301592C>TCA2839497WFS1c.1833C>T (p.Val611=)
c.1774C>T
c.1797C>T (p.Val599=)
c.1548C>T (p.Val516=)
c.1456C>T (n.1456C>T)
n.1982C>T
c.1806C>T (p.Val602=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301593A=CA1435774127WFS1c.1834A= (p.Thr612=)
c.1775A=
c.1798A= (p.Thr600=)
c.1549A= (p.Thr517=)
c.1457A= (n.1457A=)
n.1983A=
c.1807A= (p.Thr603=)
4g.6301593A>CCA356176865WFS1c.1834A>C (p.Thr612Pro)
c.1775A>C
c.1798A>C (p.Thr600Pro)
c.1549A>C (p.Thr517Pro)
c.1457A>C (n.1457A>C)
n.1983A>C
c.1807A>C (p.Thr603Pro)
4g.6301593A>GCA356176866WFS1c.1834A>G (p.Thr612Ala)
c.1775A>G
c.1798A>G (p.Thr600Ala)
c.1549A>G (p.Thr517Ala)
c.1457A>G (n.1457A>G)
n.1983A>G
c.1807A>G (p.Thr603Ala)
dbSNP gnomAD v2 gnomAD v4
4g.6301593A>TCA356176867WFS1c.1834A>T (p.Thr612Ser)
c.1775A>T
c.1798A>T (p.Thr600Ser)
c.1549A>T (p.Thr517Ser)
c.1457A>T (n.1457A>T)
n.1983A>T
c.1807A>T (p.Thr603Ser)
4g.6301594C>ACA356176868WFS1c.1835C>A (p.Thr612Asn)
c.1776C>A
c.1799C>A (p.Thr600Asn)
c.1550C>A (p.Thr517Asn)
c.1458C>A (n.1458C>A)
n.1984C>A
c.1808C>A (p.Thr603Asn)
4g.6301594C=CA1435774132WFS1c.1835C= (p.Thr612=)
c.1776C=
c.1799C= (p.Thr600=)
c.1550C= (p.Thr517=)
c.1458C= (n.1458C=)
n.1984C=
c.1808C= (p.Thr603=)
4g.6301594C>GCA356176869WFS1c.1835C>G (p.Thr612Ser)
c.1776C>G
c.1799C>G (p.Thr600Ser)
c.1550C>G (p.Thr517Ser)
c.1458C>G (n.1458C>G)
n.1984C>G
c.1808C>G (p.Thr603Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6301594C>TCA10621439WFS1c.1835C>T (p.Thr612Ile)
c.1776C>T
c.1799C>T (p.Thr600Ile)
c.1550C>T (p.Thr517Ile)
c.1458C>T (n.1458C>T)
n.1984C>T
c.1808C>T (p.Thr603Ile)
ClinVar dbSNP gnomAD v4
4g.6301595C>ACA2839498WFS1c.1836C>A (p.Thr612=)
c.1777C>A
c.1800C>A (p.Thr600=)
c.1551C>A (p.Thr517=)
c.1459C>A (n.1459C>A)
n.1985C>A
c.1809C>A (p.Thr603=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301595C=CA1435774144WFS1c.1836C= (p.Thr612=)
c.1777C=
c.1800C= (p.Thr600=)
c.1551C= (p.Thr517=)
c.1459C= (n.1459C=)
n.1985C=
c.1809C= (p.Thr603=)
4g.6301595C>GCA91796588WFS1c.1836C>G (p.Thr612=)
c.1777C>G
c.1800C>G (p.Thr600=)
c.1551C>G (p.Thr517=)
c.1459C>G (n.1459C>G)
n.1985C>G
c.1809C>G (p.Thr603=)
dbSNP gnomAD v3 gnomAD v4
4g.6301595C>TCA295576WFS1c.1836C>T (p.Thr612=)
c.1777C>T
c.1800C>T (p.Thr600=)
c.1551C>T (p.Thr517=)
c.1459C>T (n.1459C>T)
n.1985C>T
c.1809C>T (p.Thr603=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301596G>ACA323280WFS1c.1837G>A (p.Val613Met)
c.1778G>A
c.1801G>A (p.Val601Met)
c.1552G>A (p.Val518Met)
c.1460G>A (n.1460G>A)
n.1986G>A
c.1810G>A (p.Val604Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301596G>CCA356176870WFS1c.1837G>C (p.Val613Leu)
c.1778G>C
c.1801G>C (p.Val601Leu)
c.1552G>C (p.Val518Leu)
c.1460G>C (n.1460G>C)
n.1986G>C
c.1810G>C (p.Val604Leu)
4g.6301596G=CA1435774153WFS1c.1837G= (p.Val613=)
c.1778G=
c.1801G= (p.Val601=)
c.1552G= (p.Val518=)
c.1460G= (n.1460G=)
n.1986G=
c.1810G= (p.Val604=)
4g.6301596G>TCA2839499WFS1c.1837G>T (p.Val613Leu)
c.1778G>T
c.1801G>T (p.Val601Leu)
c.1552G>T (p.Val518Leu)
c.1460G>T (n.1460G>T)
n.1986G>T
c.1810G>T (p.Val604Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301597T>ACA356176873WFS1c.1838T>A (p.Val613Glu)
c.1779T>A
c.1802T>A (p.Val601Glu)
c.1553T>A (p.Val518Glu)
c.1461T>A (n.1461T>A)
n.1987T>A
c.1811T>A (p.Val604Glu)
4g.6301597T>CCA356176872WFS1c.1838T>C (p.Val613Ala)
c.1779T>C
c.1802T>C (p.Val601Ala)
c.1553T>C (p.Val518Ala)
c.1461T>C (n.1461T>C)
n.1987T>C
c.1811T>C (p.Val604Ala)
4g.6301597T>GCA356176871WFS1c.1838T>G (p.Val613Gly)
c.1779T>G
c.1802T>G (p.Val601Gly)
c.1553T>G (p.Val518Gly)
c.1461T>G (n.1461T>G)
n.1987T>G
c.1811T>G (p.Val604Gly)
4g.6301598G>ACA438368403WFS1c.1839G>A (p.Val613=)
c.1780G>A
c.1803G>A (p.Val601=)
c.1554G>A (p.Val518=)
c.1462G>A (n.1462G>A)
n.1988G>A
c.1812G>A (p.Val604=)
gnomAD v4
4g.6301598G>CCA438368404WFS1c.1839G>C (p.Val613=)
c.1780G>C
c.1803G>C (p.Val601=)
c.1554G>C (p.Val518=)
c.1462G>C (n.1462G>C)
n.1988G>C
c.1812G>C (p.Val604=)
gnomAD v4
4g.6301598G>TCA438368406WFS1c.1839G>T (p.Val613=)
c.1780G>T
c.1803G>T (p.Val601=)
c.1554G>T (p.Val518=)
c.1462G>T (n.1462G>T)
n.1988G>T
c.1812G>T (p.Val604=)
4g.6301598_6301599dupCA2578035838WFS1c.1839_1840dup (p.Ala614GlyfsTer24)
c.1780_1781dup
c.1803_1804dup (p.Ala602GlyfsTer24)
c.1554_1555dup (p.Ala519GlyfsTer24)
c.1462_1463dup (n.1462_1463dup)
n.1988_1989dup
c.1812_1813dup (p.Ala605GlyfsTer24)
gnomAD v4
4g.6301599G>ACA356176874WFS1c.1840G>A (p.Ala614Thr)
c.1781G>A
c.1804G>A (p.Ala602Thr)
c.1555G>A (p.Ala519Thr)
c.1463G>A (n.1463G>A)
n.1989G>A
c.1813G>A (p.Ala605Thr)
ClinVar gnomAD v4
4g.6301599G>CCA356176875WFS1c.1840G>C (p.Ala614Pro)
c.1781G>C
c.1804G>C (p.Ala602Pro)
c.1555G>C (p.Ala519Pro)
c.1463G>C (n.1463G>C)
n.1989G>C
c.1813G>C (p.Ala605Pro)
4g.6301599G>TCA356176876WFS1c.1840G>T (p.Ala614Ser)
c.1781G>T
c.1804G>T (p.Ala602Ser)
c.1555G>T (p.Ala519Ser)
c.1463G>T (n.1463G>T)
n.1989G>T
c.1813G>T (p.Ala605Ser)
4g.6301600C>ACA356176877WFS1c.1841C>A (p.Ala614Glu)
c.1782C>A
c.1805C>A (p.Ala602Glu)
c.1556C>A (p.Ala519Glu)
c.1464C>A (n.1464C>A)
n.1990C>A
c.1814C>A (p.Ala605Glu)
gnomAD v4
4g.6301600C=CA1435774166WFS1c.1841C= (p.Ala614=)
c.1782C=
c.1805C= (p.Ala602=)
c.1556C= (p.Ala519=)
c.1464C= (n.1464C=)
n.1990C=
c.1814C= (p.Ala605=)
4g.6301600C>GCA356176878WFS1c.1841C>G (p.Ala614Gly)
c.1782C>G
c.1805C>G (p.Ala602Gly)
c.1556C>G (p.Ala519Gly)
c.1464C>G (n.1464C>G)
n.1990C>G
c.1814C>G (p.Ala605Gly)
4g.6301600C>TCA282578WFS1c.1841C>T (p.Ala614Val)
c.1782C>T
c.1805C>T (p.Ala602Val)
c.1556C>T (p.Ala519Val)
c.1464C>T (n.1464C>T)
n.1990C>T
c.1814C>T (p.Ala605Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301601G>ACA2839500WFS1c.1842G>A (p.Ala614=)
c.1783G>A
c.1806G>A (p.Ala602=)
c.1557G>A (p.Ala519=)
c.1465G>A (n.1465G>A)
n.1991G>A
c.1815G>A (p.Ala605=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301601G>CCA2839502WFS1c.1842G>C (p.Ala614=)
c.1783G>C
c.1806G>C (p.Ala602=)
c.1557G>C (p.Ala519=)
c.1465G>C (n.1465G>C)
n.1991G>C
c.1815G>C (p.Ala605=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301601G=CA1435774174WFS1c.1842G= (p.Ala614=)
c.1783G=
c.1806G= (p.Ala602=)
c.1557G= (p.Ala519=)
c.1465G= (n.1465G=)
n.1991G=
c.1815G= (p.Ala605=)
4g.6301601G>TCA2839501WFS1c.1842G>T (p.Ala614=)
c.1783G>T
c.1806G>T (p.Ala602=)
c.1557G>T (p.Ala519=)
c.1465G>T (n.1465G>T)
n.1991G>T
c.1815G>T (p.Ala605=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301602G>ACA91796601WFS1c.1843G>A (p.Val615Ile)
c.1784G>A
c.1807G>A (p.Val603Ile)
c.1558G>A (p.Val520Ile)
c.1466G>A (n.1466G>A)
n.1992G>A
c.1816G>A (p.Val606Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301602G>CCA356176879WFS1c.1843G>C (p.Val615Leu)
c.1784G>C
c.1807G>C (p.Val603Leu)
c.1558G>C (p.Val520Leu)
c.1466G>C (n.1466G>C)
n.1992G>C
c.1816G>C (p.Val606Leu)
4g.6301602G=CA1435774182WFS1c.1843G= (p.Val615=)
c.1784G=
c.1807G= (p.Val603=)
c.1558G= (p.Val520=)
c.1466G= (n.1466G=)
n.1992G=
c.1816G= (p.Val606=)
4g.6301602G>TCA356176880WFS1c.1843G>T (p.Val615Phe)
c.1784G>T
c.1807G>T (p.Val603Phe)
c.1558G>T (p.Val520Phe)
c.1466G>T (n.1466G>T)
n.1992G>T
c.1816G>T (p.Val606Phe)
4g.6301603T>ACA356176882WFS1c.1844T>A (p.Val615Asp)
c.1785T>A
c.1808T>A (p.Val603Asp)
c.1559T>A (p.Val520Asp)
c.1467T>A (n.1467T>A)
n.1993T>A
c.1817T>A (p.Val606Asp)
4g.6301603T>CCA356176883WFS1c.1844T>C (p.Val615Ala)
c.1785T>C
c.1808T>C (p.Val603Ala)
c.1559T>C (p.Val520Ala)
c.1467T>C (n.1467T>C)
n.1993T>C
c.1817T>C (p.Val606Ala)
4g.6301603T>GCA356176881WFS1c.1844T>G (p.Val615Gly)
c.1785T>G
c.1808T>G (p.Val603Gly)
c.1559T>G (p.Val520Gly)
c.1467T>G (n.1467T>G)
n.1993T>G
c.1817T>G (p.Val606Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301603T=CA1435774187WFS1c.1844T= (p.Val615=)
c.1785T=
c.1808T= (p.Val603=)
c.1559T= (p.Val520=)
c.1467T= (n.1467T=)
n.1993T=
c.1817T= (p.Val606=)
4g.6301604C>ACA438368412WFS1c.1845C>A (p.Val615=)
c.1786C>A
c.1809C>A (p.Val603=)
c.1560C>A (p.Val520=)
c.1468C>A (n.1468C>A)
n.1994C>A
c.1818C>A (p.Val606=)
4g.6301604C=CA1435774189WFS1c.1845C= (p.Val615=)
c.1786C=
c.1809C= (p.Val603=)
c.1560C= (p.Val520=)
c.1468C= (n.1468C=)
n.1994C=
c.1818C= (p.Val606=)
4g.6301604C>GCA438368413WFS1c.1845C>G (p.Val615=)
c.1786C>G
c.1809C>G (p.Val603=)
c.1560C>G (p.Val520=)
c.1468C>G (n.1468C>G)
n.1994C>G
c.1818C>G (p.Val606=)
dbSNP gnomAD v4
4g.6301604C>TCA2839503WFS1c.1845C>T (p.Val615=)
c.1786C>T
c.1809C>T (p.Val603=)
c.1560C>T (p.Val520=)
c.1468C>T (n.1468C>T)
n.1994C>T
c.1818C>T (p.Val606=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301605T>ACA356176884WFS1c.1846T>A (p.Cys616Ser)
c.1787T>A
c.1810T>A (p.Cys604Ser)
c.1561T>A (p.Cys521Ser)
c.1469T>A (n.1469T>A)
n.1995T>A
c.1819T>A (p.Cys607Ser)
4g.6301605T>CCA356176885WFS1c.1846T>C (p.Cys616Arg)
c.1787T>C
c.1810T>C (p.Cys604Arg)
c.1561T>C (p.Cys521Arg)
c.1469T>C (n.1469T>C)
n.1995T>C
c.1819T>C (p.Cys607Arg)
4g.6301605T>GCA356176886WFS1c.1846T>G (p.Cys616Gly)
c.1787T>G
c.1810T>G (p.Cys604Gly)
c.1561T>G (p.Cys521Gly)
c.1469T>G (n.1469T>G)
n.1995T>G
c.1819T>G (p.Cys607Gly)
4g.6301606G>ACA356176887WFS1c.1847G>A (p.Cys616Tyr)
c.1788G>A
c.1811G>A (p.Cys604Tyr)
c.1562G>A (p.Cys521Tyr)
c.1470G>A (n.1470G>A)
n.1996G>A
c.1820G>A (p.Cys607Tyr)
COSMIC
4g.6301606G>CCA356176888WFS1c.1847G>C (p.Cys616Ser)
c.1788G>C
c.1811G>C (p.Cys604Ser)
c.1562G>C (p.Cys521Ser)
c.1470G>C (n.1470G>C)
n.1996G>C
c.1820G>C (p.Cys607Ser)
4g.6301606G>TCA356176889WFS1c.1847G>T (p.Cys616Phe)
c.1788G>T
c.1811G>T (p.Cys604Phe)
c.1562G>T (p.Cys521Phe)
c.1470G>T (n.1470G>T)
n.1996G>T
c.1820G>T (p.Cys607Phe)
gnomAD v4
4g.6301607T>ACA356176890WFS1c.1848T>A (p.Cys616Ter)
c.1789T>A
c.1812T>A (p.Cys604Ter)
c.1563T>A (p.Cys521Ter)
c.1471T>A (n.1471T>A)
n.1997T>A
c.1821T>A (p.Cys607Ter)
4g.6301607T>CCA438368418WFS1c.1848T>C (p.Cys616=)
c.1789T>C
c.1812T>C (p.Cys604=)
c.1563T>C (p.Cys521=)
c.1471T>C (n.1471T>C)
n.1997T>C
c.1821T>C (p.Cys607=)
dbSNP
4g.6301607T>GCA356176891WFS1c.1848T>G (p.Cys616Trp)
c.1789T>G
c.1812T>G (p.Cys604Trp)
c.1563T>G (p.Cys521Trp)
c.1471T>G (n.1471T>G)
n.1997T>G
c.1821T>G (p.Cys607Trp)
4g.6301607T=CA1435774194WFS1c.1848T= (p.Cys616=)
c.1789T=
c.1812T= (p.Cys604=)
c.1563T= (p.Cys521=)
c.1471T= (n.1471T=)
n.1997T=
c.1821T= (p.Cys607=)
4g.6301608A=CA1435774197WFS1c.1849A= (p.Ser617=)
c.1790A=
c.1813A= (p.Ser605=)
c.1564A= (p.Ser522=)
c.1472A= (n.1472A=)
n.1998A=
c.1822A= (p.Ser608=)
4g.6301608A>CCA356176892WFS1c.1849A>C (p.Ser617Arg)
c.1790A>C
c.1813A>C (p.Ser605Arg)
c.1564A>C (p.Ser522Arg)
c.1472A>C (n.1472A>C)
n.1998A>C
c.1822A>C (p.Ser608Arg)
4g.6301608A>GCA2839504WFS1c.1849A>G (p.Ser617Gly)
c.1790A>G
c.1813A>G (p.Ser605Gly)
c.1564A>G (p.Ser522Gly)
c.1472A>G (n.1472A>G)
n.1998A>G
c.1822A>G (p.Ser608Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301608A>TCA356176893WFS1c.1849A>T (p.Ser617Cys)
c.1790A>T
c.1813A>T (p.Ser605Cys)
c.1564A>T (p.Ser522Cys)
c.1472A>T (n.1472A>T)
n.1998A>T
c.1822A>T (p.Ser608Cys)
4g.6301608dupCA2586973636WFS1c.1849dup (p.Ser617LysfsTer?)
c.1790dup
c.1813dup (p.Ser605LysfsTer?)
c.1564dup (p.Ser522LysfsTer?)
c.1472dup (n.1472dup)
n.1998dup
c.1822dup (p.Ser608LysfsTer?)
4g.6301609G>ACA356176895WFS1c.1850G>A (p.Ser617Asn)
c.1791G>A
c.1814G>A (p.Ser605Asn)
c.1565G>A (p.Ser522Asn)
c.1473G>A (n.1473G>A)
n.1999G>A
c.1823G>A (p.Ser608Asn)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6301609G>CCA356176896WFS1c.1850G>C (p.Ser617Thr)
c.1791G>C
c.1814G>C (p.Ser605Thr)
c.1565G>C (p.Ser522Thr)
c.1473G>C (n.1473G>C)
n.1999G>C
c.1823G>C (p.Ser608Thr)
4g.6301609G=CA1435774202WFS1c.1850G= (p.Ser617=)
c.1791G=
c.1814G= (p.Ser605=)
c.1565G= (p.Ser522=)
c.1473G= (n.1473G=)
n.1999G=
c.1823G= (p.Ser608=)
4g.6301609G>TCA356176894WFS1c.1850G>T (p.Ser617Ile)
c.1791G>T
c.1814G>T (p.Ser605Ile)
c.1565G>T (p.Ser522Ile)
c.1473G>T (n.1473G>T)
n.1999G>T
c.1823G>T (p.Ser608Ile)
4g.6301610T>ACA356176897WFS1c.1851T>A (p.Ser617Arg)
c.1792T>A
c.1815T>A (p.Ser605Arg)
c.1566T>A (p.Ser522Arg)
c.1474T>A (n.1474T>A)
n.2000T>A
c.1824T>A (p.Ser608Arg)
4g.6301610T>CCA438368427WFS1c.1851T>C (p.Ser617=)
c.1792T>C
c.1815T>C (p.Ser605=)
c.1566T>C (p.Ser522=)
c.1474T>C (n.1474T>C)
n.2000T>C
c.1824T>C (p.Ser608=)
dbSNP
4g.6301610T>GCA356176898WFS1c.1851T>G (p.Ser617Arg)
c.1792T>G
c.1815T>G (p.Ser605Arg)
c.1566T>G (p.Ser522Arg)
c.1474T>G (n.1474T>G)
n.2000T>G
c.1824T>G (p.Ser608Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301610T=CA1435774206WFS1c.1851T= (p.Ser617=)
c.1792T=
c.1815T= (p.Ser605=)
c.1566T= (p.Ser522=)
c.1474T= (n.1474T=)
n.2000T=
c.1824T= (p.Ser608=)
4g.6301611G>ACA2839505WFS1c.1852G>A (p.Val618Met)
c.1793G>A
c.1816G>A (p.Val606Met)
c.1567G>A (p.Val523Met)
c.1475G>A (n.1475G>A)
n.2001G>A
c.1825G>A (p.Val609Met)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301611G>CCA356176899WFS1c.1852G>C (p.Val618Leu)
c.1793G>C
c.1816G>C (p.Val606Leu)
c.1567G>C (p.Val523Leu)
c.1475G>C (n.1475G>C)
n.2001G>C
c.1825G>C (p.Val609Leu)
4g.6301611G=CA1435774211WFS1c.1852G= (p.Val618=)
c.1793G=
c.1816G= (p.Val606=)
c.1567G= (p.Val523=)
c.1475G= (n.1475G=)
n.2001G=
c.1825G= (p.Val609=)
4g.6301611G>TCA356176900WFS1c.1852G>T (p.Val618Leu)
c.1793G>T
c.1816G>T (p.Val606Leu)
c.1567G>T (p.Val523Leu)
c.1475G>T (n.1475G>T)
n.2001G>T
c.1825G>T (p.Val609Leu)
ClinVar dbSNP
4g.6301612T>ACA356176902WFS1c.1853T>A (p.Val618Glu)
c.1794T>A
c.1817T>A (p.Val606Glu)
c.1568T>A (p.Val523Glu)
c.1476T>A (n.1476T>A)
n.2002T>A
c.1826T>A (p.Val609Glu)
4g.6301612T>CCA356176901WFS1c.1853T>C (p.Val618Ala)
c.1794T>C
c.1817T>C (p.Val606Ala)
c.1568T>C (p.Val523Ala)
c.1476T>C (n.1476T>C)
n.2002T>C
c.1826T>C (p.Val609Ala)
4g.6301612T>GCA2839506WFS1c.1853T>G (p.Val618Gly)
c.1794T>G
c.1817T>G (p.Val606Gly)
c.1568T>G (p.Val523Gly)
c.1476T>G (n.1476T>G)
n.2002T>G
c.1826T>G (p.Val609Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301612T=CA1435774213WFS1c.1853T= (p.Val618=)
c.1794T=
c.1817T= (p.Val606=)
c.1568T= (p.Val523=)
c.1476T= (n.1476T=)
n.2002T=
c.1826T= (p.Val609=)
4g.6301613G>ACA438368434WFS1c.1854G>A (p.Val618=)
c.1795G>A
c.1818G>A (p.Val606=)
c.1569G>A (p.Val523=)
c.1477G>A (n.1477G>A)
n.2003G>A
c.1827G>A (p.Val609=)
ClinVar dbSNP gnomAD v4
4g.6301613G>CCA438368437WFS1c.1854G>C (p.Val618=)
c.1795G>C
c.1818G>C (p.Val606=)
c.1569G>C (p.Val523=)
c.1477G>C (n.1477G>C)
n.2003G>C
c.1827G>C (p.Val609=)
4g.6301613G=CA1435774218WFS1c.1854G= (p.Val618=)
c.1795G=
c.1818G= (p.Val606=)
c.1569G= (p.Val523=)
c.1477G= (n.1477G=)
n.2003G=
c.1827G= (p.Val609=)
4g.6301613G>TCA438368436WFS1c.1854G>T (p.Val618=)
c.1795G>T
c.1818G>T (p.Val606=)
c.1569G>T (p.Val523=)
c.1477G>T (n.1477G>T)
n.2003G>T
c.1827G>T (p.Val609=)
4g.6301613_6301614delinsGCCA1435774217WFS1c.1854_1855delinsGC (p.Val618=)
c.1795_1796delinsGC
c.1818_1819delinsGC (p.Val606=)
c.1569_1570delinsGC (p.Val523=)
c.1477_1478delinsGC (n.1477_1478delinsGC)
n.2003_2004delinsGC
c.1827_1828delinsGC (p.Val609=)
4g.6301614C>ACA91796609WFS1c.1855C>A (p.Pro619Thr)
c.1796C>A
c.1819C>A (p.Pro607Thr)
c.1570C>A (p.Pro524Thr)
c.1478C>A (n.1478C>A)
n.2004C>A
c.1828C>A (p.Pro610Thr)
dbSNP
4g.6301614C=CA1435774225WFS1c.1855C= (p.Pro619=)
c.1796C=
c.1819C= (p.Pro607=)
c.1570C= (p.Pro524=)
c.1478C= (n.1478C=)
n.2004C=
c.1828C= (p.Pro610=)
4g.6301614C>GCA2839507WFS1c.1855C>G (p.Pro619Ala)
c.1796C>G
c.1819C>G (p.Pro607Ala)
c.1570C>G (p.Pro524Ala)
c.1478C>G (n.1478C>G)
n.2004C>G
c.1828C>G (p.Pro610Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301614C>TCA2839508WFS1c.1855C>T (p.Pro619Ser)
c.1796C>T
c.1819C>T (p.Pro607Ser)
c.1570C>T (p.Pro524Ser)
c.1478C>T (n.1478C>T)
n.2004C>T
c.1828C>T (p.Pro610Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301617delCA797208695WFS1c.1858del (p.Leu620CysfsTer17)
c.1799del
c.1822del (p.Leu608CysfsTer17)
c.1573del (p.Leu525CysfsTer17)
c.1481del (n.1481del)
n.2007del
c.1831del (p.Leu611CysfsTer17)
dbSNP
4g.6301615C>ACA356176903WFS1c.1856C>A (p.Pro619His)
c.1797C>A
c.1820C>A (p.Pro607His)
c.1571C>A (p.Pro524His)
c.1479C>A (n.1479C>A)
n.2005C>A
c.1829C>A (p.Pro610His)
gnomAD v4
4g.6301615C=CA1435774229WFS1c.1856C= (p.Pro619=)
c.1797C=
c.1820C= (p.Pro607=)
c.1571C= (p.Pro524=)
c.1479C= (n.1479C=)
n.2005C=
c.1829C= (p.Pro610=)
4g.6301615C>GCA91796616WFS1c.1856C>G (p.Pro619Arg)
c.1797C>G
c.1820C>G (p.Pro607Arg)
c.1571C>G (p.Pro524Arg)
c.1479C>G (n.1479C>G)
n.2005C>G
c.1829C>G (p.Pro610Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6301615C>TCA136338WFS1c.1856C>T (p.Pro619Leu)
c.1797C>T
c.1820C>T (p.Pro607Leu)
c.1571C>T (p.Pro524Leu)
c.1479C>T (n.1479C>T)
n.2005C>T
c.1829C>T (p.Pro610Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301616C>ACA438368443WFS1c.1857C>A (p.Pro619=)
c.1798C>A
c.1821C>A (p.Pro607=)
c.1572C>A (p.Pro524=)
c.1480C>A (n.1480C>A)
n.2006C>A
c.1830C>A (p.Pro610=)
dbSNP gnomAD v3 gnomAD v4
4g.6301616C=CA1435774236WFS1c.1857C= (p.Pro619=)
c.1798C=
c.1821C= (p.Pro607=)
c.1572C= (p.Pro524=)
c.1480C= (n.1480C=)
n.2006C=
c.1830C= (p.Pro610=)
4g.6301616C>GCA438368445WFS1c.1857C>G (p.Pro619=)
c.1798C>G
c.1821C>G (p.Pro607=)
c.1572C>G (p.Pro524=)
c.1480C>G (n.1480C>G)
n.2006C>G
c.1830C>G (p.Pro610=)
4g.6301616C>TCA438368446WFS1c.1857C>T (p.Pro619=)
c.1798C>T
c.1821C>T (p.Pro607=)
c.1572C>T (p.Pro524=)
c.1480C>T (n.1480C>T)
n.2006C>T
c.1830C>T (p.Pro610=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301617C>ACA356176904WFS1c.1858C>A (p.Leu620Met)
c.1799C>A
c.1822C>A (p.Leu608Met)
c.1573C>A (p.Leu525Met)
c.1481C>A (n.1481C>A)
n.2007C>A
c.1831C>A (p.Leu611Met)
4g.6301617C=CA1435774242WFS1c.1858C= (p.Leu620=)
c.1799C=
c.1822C= (p.Leu608=)
c.1573C= (p.Leu525=)
c.1481C= (n.1481C=)
n.2007C=
c.1831C= (p.Leu611=)
4g.6301617C>GCA356176905WFS1c.1858C>G (p.Leu620Val)
c.1799C>G
c.1822C>G (p.Leu608Val)
c.1573C>G (p.Leu525Val)
c.1481C>G (n.1481C>G)
n.2007C>G
c.1831C>G (p.Leu611Val)
4g.6301617C>TCA2839509WFS1c.1858C>T (p.Leu620=)
c.1799C>T
c.1822C>T (p.Leu608=)
c.1573C>T (p.Leu525=)
c.1481C>T (n.1481C>T)
n.2007C>T
c.1831C>T (p.Leu611=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301618T>ACA356176908WFS1c.1859T>A (p.Leu620Gln)
c.1800T>A
c.1823T>A (p.Leu608Gln)
c.1574T>A (p.Leu525Gln)
c.1482T>A (n.1482T>A)
n.2008T>A
c.1832T>A (p.Leu611Gln)
4g.6301618T>CCA356176906WFS1c.1859T>C (p.Leu620Pro)
c.1800T>C
c.1823T>C (p.Leu608Pro)
c.1574T>C (p.Leu525Pro)
c.1482T>C (n.1482T>C)
n.2008T>C
c.1832T>C (p.Leu611Pro)
4g.6301618T>GCA356176907WFS1c.1859T>G (p.Leu620Arg)
c.1800T>G
c.1823T>G (p.Leu608Arg)
c.1574T>G (p.Leu525Arg)
c.1482T>G (n.1482T>G)
n.2008T>G
c.1832T>G (p.Leu611Arg)
4g.6301619G>ACA438368448WFS1c.1860G>A (p.Leu620=)
c.1801G>A
c.1824G>A (p.Leu608=)
c.1575G>A (p.Leu525=)
c.1483G>A (n.1483G>A)
n.2009G>A
c.1833G>A (p.Leu611=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301619G>CCA438368450WFS1c.1860G>C (p.Leu620=)
c.1801G>C
c.1824G>C (p.Leu608=)
c.1575G>C (p.Leu525=)
c.1483G>C (n.1483G>C)
n.2009G>C
c.1833G>C (p.Leu611=)
gnomAD v4
4g.6301619G=CA1435774248WFS1c.1860G= (p.Leu620=)
c.1801G=
c.1824G= (p.Leu608=)
c.1575G= (p.Leu525=)
c.1483G= (n.1483G=)
n.2009G=
c.1833G= (p.Leu611=)
4g.6301619G>TCA438368452WFS1c.1860G>T (p.Leu620=)
c.1801G>T
c.1824G>T (p.Leu608=)
c.1575G>T (p.Leu525=)
c.1483G>T (n.1483G>T)
n.2009G>T
c.1833G>T (p.Leu611=)
4g.6301620C>ACA356176909WFS1c.1861C>A (p.Leu621Met)
c.1802C>A
c.1825C>A (p.Leu609Met)
c.1576C>A (p.Leu526Met)
c.1484C>A (n.1484C>A)
n.2010C>A
c.1834C>A (p.Leu612Met)
4g.6301620C=CA1435774254WFS1c.1861C= (p.Leu621=)
c.1802C=
c.1825C= (p.Leu609=)
c.1576C= (p.Leu526=)
c.1484C= (n.1484C=)
n.2010C=
c.1834C= (p.Leu612=)
4g.6301620C>GCA356176910WFS1c.1861C>G (p.Leu621Val)
c.1802C>G
c.1825C>G (p.Leu609Val)
c.1576C>G (p.Leu526Val)
c.1484C>G (n.1484C>G)
n.2010C>G
c.1834C>G (p.Leu612Val)
dbSNP gnomAD v2 gnomAD v4
4g.6301620C>TCA2839510WFS1c.1861C>T (p.Leu621=)
c.1802C>T
c.1825C>T (p.Leu609=)
c.1576C>T (p.Leu526=)
c.1484C>T (n.1484C>T)
n.2010C>T
c.1834C>T (p.Leu612=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301621T>ACA356176911WFS1c.1862T>A (p.Leu621Gln)
c.1803T>A
c.1826T>A (p.Leu609Gln)
c.1577T>A (p.Leu526Gln)
c.1485T>A (n.1485T>A)
n.2011T>A
c.1835T>A (p.Leu612Gln)
ClinVar
4g.6301621T>CCA356176912WFS1c.1862T>C (p.Leu621Pro)
c.1803T>C
c.1826T>C (p.Leu609Pro)
c.1577T>C (p.Leu526Pro)
c.1485T>C (n.1485T>C)
n.2011T>C
c.1835T>C (p.Leu612Pro)
4g.6301621T>GCA356176913WFS1c.1862T>G (p.Leu621Arg)
c.1803T>G
c.1826T>G (p.Leu609Arg)
c.1577T>G (p.Leu526Arg)
c.1485T>G (n.1485T>G)
n.2011T>G
c.1835T>G (p.Leu612Arg)
4g.6301622G>ACA438368456WFS1c.1863G>A (p.Leu621=)
c.1804G>A
c.1827G>A (p.Leu609=)
c.1578G>A (p.Leu526=)
c.1486G>A (n.1486G>A)
n.2012G>A
c.1836G>A (p.Leu612=)
dbSNP gnomAD v2 gnomAD v4
4g.6301622G>CCA438368457WFS1c.1863G>C (p.Leu621=)
c.1804G>C
c.1827G>C (p.Leu609=)
c.1578G>C (p.Leu526=)
c.1486G>C (n.1486G>C)
n.2012G>C
c.1836G>C (p.Leu612=)
gnomAD v4
4g.6301622G=CA1435774256WFS1c.1863G= (p.Leu621=)
c.1804G=
c.1827G= (p.Leu609=)
c.1578G= (p.Leu526=)
c.1486G= (n.1486G=)
n.2012G=
c.1836G= (p.Leu612=)
4g.6301622G>TCA438368458WFS1c.1863G>T (p.Leu621=)
c.1804G>T
c.1827G>T (p.Leu609=)
c.1578G>T (p.Leu526=)
c.1486G>T (n.1486G>T)
n.2012G>T
c.1836G>T (p.Leu612=)
4g.6301622_6301623delinsGTCA1435774257WFS1c.1863_1864delinsGT (p.Leu621=)
c.1804_1805delinsGT
c.1827_1828delinsGT (p.Leu609=)
c.1578_1579delinsGT (p.Leu526=)
c.1486_1487delinsGT (n.1486_1487delinsGT)
n.2012_2013delinsGT
c.1836_1837delinsGT (p.Leu612=)
4g.6301623T>ACA356176914WFS1c.1864T>A (p.Leu622Met)
c.1805T>A
c.1828T>A (p.Leu610Met)
c.1579T>A (p.Leu527Met)
c.1487T>A (n.1487T>A)
n.2013T>A
c.1837T>A (p.Leu613Met)
4g.6301623T>CCA438368459WFS1c.1864T>C (p.Leu622=)
c.1805T>C
c.1828T>C (p.Leu610=)
c.1579T>C (p.Leu527=)
c.1487T>C (n.1487T>C)
n.2013T>C
c.1837T>C (p.Leu613=)
4g.6301623T>GCA356176915WFS1c.1864T>G (p.Leu622Val)
c.1805T>G
c.1828T>G (p.Leu610Val)
c.1579T>G (p.Leu527Val)
c.1487T>G (n.1487T>G)
n.2013T>G
c.1837T>G (p.Leu613Val)
dbSNP gnomAD v4
4g.6301623T=CA1435774267WFS1c.1864T= (p.Leu622=)
c.1805T=
c.1828T= (p.Leu610=)
c.1579T= (p.Leu527=)
c.1487T= (n.1487T=)
n.2013T=
c.1837T= (p.Leu613=)
4g.6301624delCA915944125WFS1c.1865del (p.Leu622CysfsTer15)
c.1806del
c.1829del (p.Leu610CysfsTer15)
c.1580del (p.Leu527CysfsTer15)
c.1488del (n.1488del)
n.2014del
c.1838del (p.Leu613CysfsTer15)
ClinVar dbSNP
4g.6301624T>ACA356176916WFS1c.1865T>A (p.Leu622Ter)
c.1806T>A
c.1829T>A (p.Leu610Ter)
c.1580T>A (p.Leu527Ter)
c.1488T>A (n.1488T>A)
n.2014T>A
c.1838T>A (p.Leu613Ter)
4g.6301624T>CCA356176917WFS1c.1865T>C (p.Leu622Ser)
c.1806T>C
c.1829T>C (p.Leu610Ser)
c.1580T>C (p.Leu527Ser)
c.1488T>C (n.1488T>C)
n.2014T>C
c.1838T>C (p.Leu613Ser)
gnomAD v4
4g.6301624T>GCA356176918WFS1c.1865T>G (p.Leu622Trp)
c.1806T>G
c.1829T>G (p.Leu610Trp)
c.1580T>G (p.Leu527Trp)
c.1488T>G (n.1488T>G)
n.2014T>G
c.1838T>G (p.Leu613Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301624T=CA1435774273WFS1c.1865T= (p.Leu622=)
c.1806T=
c.1829T= (p.Leu610=)
c.1580T= (p.Leu527=)
c.1488T= (n.1488T=)
n.2014T=
c.1838T= (p.Leu613=)
4g.6301624_6301640delinsTGCGCTGGTGGACCAAGCA1435774275WFS1c.1865_1881delinsTGCGCTGGTGGACCAAG (p.Leu622=)
c.1806_1822delinsTGCGCTGGTGGACCAAG
c.1829_1845delinsTGCGCTGGTGGACCAAG (p.Leu610=)
c.1580_1596delinsTGCGCTGGTGGACCAAG (p.Leu527=)
c.1488_1504delinsTGCGCTGGTGGACCAAG (n.1488_1504delinsTGCGCTGGTGGACCAAG)
n.2014_2030delinsTGCGCTGGTGGACCAAG
c.1838_1854delinsTGCGCTGGTGGACCAAG (p.Leu613=)
4g.6301625G>ACA438368464WFS1c.1866G>A (p.Leu622=)
c.1807G>A
c.1830G>A (p.Leu610=)
c.1581G>A (p.Leu527=)
c.1489G>A (n.1489G>A)
n.2015G>A
c.1839G>A (p.Leu613=)
dbSNP gnomAD v4
4g.6301625G>CCA356176919WFS1c.1866G>C (p.Leu622Phe)
c.1807G>C
c.1830G>C (p.Leu610Phe)
c.1581G>C (p.Leu527Phe)
c.1489G>C (n.1489G>C)
n.2015G>C
c.1839G>C (p.Leu613Phe)
4g.6301625G=CA1435774278WFS1c.1866G= (p.Leu622=)
c.1807G=
c.1830G= (p.Leu610=)
c.1581G= (p.Leu527=)
c.1489G= (n.1489G=)
n.2015G=
c.1839G= (p.Leu613=)
4g.6301625G>TCA356176920WFS1c.1866G>T (p.Leu622Phe)
c.1807G>T
c.1830G>T (p.Leu610Phe)
c.1581G>T (p.Leu527Phe)
c.1489G>T (n.1489G>T)
n.2015G>T
c.1839G>T (p.Leu613Phe)
4g.6301627_6301642delCA549707909WFS1c.1868_1883del (p.Arg623ProfsTer9)
c.1809_1824del
c.1832_1847del (p.Arg611ProfsTer9)
c.1583_1598del (p.Arg528ProfsTer9)
c.1491_1506del (n.1491_1506del)
n.2017_2032del
c.1841_1856del (p.Arg614ProfsTer9)
dbSNP gnomAD v2
4g.6301626C>ACA356176921WFS1c.1867C>A (p.Arg623Ser)
c.1808C>A
c.1831C>A (p.Arg611Ser)
c.1582C>A (p.Arg528Ser)
c.1490C>A (n.1490C>A)
n.2016C>A
c.1840C>A (p.Arg614Ser)
4g.6301626C=CA1435774284WFS1c.1867C= (p.Arg623=)
c.1808C=
c.1831C= (p.Arg611=)
c.1582C= (p.Arg528=)
c.1490C= (n.1490C=)
n.2016C=
c.1840C= (p.Arg614=)
4g.6301626C>GCA2839512WFS1c.1867C>G (p.Arg623Gly)
c.1808C>G
c.1831C>G (p.Arg611Gly)
c.1582C>G (p.Arg528Gly)
c.1490C>G (n.1490C>G)
n.2016C>G
c.1840C>G (p.Arg614Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301626C>TCA2839511WFS1c.1867C>T (p.Arg623Cys)
c.1808C>T
c.1831C>T (p.Arg611Cys)
c.1582C>T (p.Arg528Cys)
c.1490C>T (n.1490C>T)
n.2016C>T
c.1840C>T (p.Arg614Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6301626_6301627delinsCGCA1435774290WFS1c.1867_1868delinsCG (p.Arg623=)
c.1808_1809delinsCG
c.1831_1832delinsCG (p.Arg611=)
c.1582_1583delinsCG (p.Arg528=)
c.1490_1491delinsCG (n.1490_1491delinsCG)
n.2016_2017delinsCG
c.1840_1841delinsCG (p.Arg614=)
4g.6301626_6301627delinsTACA320989WFS1c.1867_1868delinsTA (p.Arg623Tyr)
c.1808_1809delinsTA
c.1831_1832delinsTA (p.Arg611Tyr)
c.1582_1583delinsTA (p.Arg528Tyr)
c.1490_1491delinsTA (n.1490_1491delinsTA)
n.2016_2017delinsTA
c.1840_1841delinsTA (p.Arg614Tyr)
ClinVar dbSNP
4g.6301627G>ACA136340WFS1c.1868G>A (p.Arg623His)
c.1809G>A
c.1832G>A (p.Arg611His)
c.1583G>A (p.Arg528His)
c.1491G>A (n.1491G>A)
n.2017G>A
c.1841G>A (p.Arg614His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301627G>CCA356176922WFS1c.1868G>C (p.Arg623Pro)
c.1809G>C
c.1832G>C (p.Arg611Pro)
c.1583G>C (p.Arg528Pro)
c.1491G>C (n.1491G>C)
n.2017G>C
c.1841G>C (p.Arg614Pro)
dbSNP gnomAD v3 gnomAD v4
4g.6301627G=CA1435774301WFS1c.1868G= (p.Arg623=)
c.1809G=
c.1832G= (p.Arg611=)
c.1583G= (p.Arg528=)
c.1491G= (n.1491G=)
n.2017G=
c.1841G= (p.Arg614=)
4g.6301627G>TCA356176923WFS1c.1868G>T (p.Arg623Leu)
c.1809G>T
c.1832G>T (p.Arg611Leu)
c.1583G>T (p.Arg528Leu)
c.1491G>T (n.1491G>T)
n.2017G>T
c.1841G>T (p.Arg614Leu)
4g.6301627_6301628delinsATCA2580071779WFS1c.1868_1869delinsAT (p.Arg623His)
c.1809_1810delinsAT
c.1832_1833delinsAT (p.Arg611His)
c.1583_1584delinsAT (p.Arg528His)
c.1491_1492delinsAT (n.1491_1492delinsAT)
n.2017_2018delinsAT
c.1841_1842delinsAT (p.Arg614His)
ClinVar
4g.6301628C>ACA438368466WFS1c.1869C>A (p.Arg623=)
c.1810C>A
c.1833C>A (p.Arg611=)
c.1584C>A (p.Arg528=)
c.1492C>A (n.1492C>A)
n.2018C>A
c.1842C>A (p.Arg614=)
4g.6301628C=CA1435774304WFS1c.1869C= (p.Arg623=)
c.1810C=
c.1833C= (p.Arg611=)
c.1584C= (p.Arg528=)
c.1492C= (n.1492C=)
n.2018C=
c.1842C= (p.Arg614=)
4g.6301628C>GCA438368467WFS1c.1869C>G (p.Arg623=)
c.1810C>G
c.1833C>G (p.Arg611=)
c.1584C>G (p.Arg528=)
c.1492C>G (n.1492C>G)
n.2018C>G
c.1842C>G (p.Arg614=)
4g.6301628C>TCA2839513WFS1c.1869C>T (p.Arg623=)
c.1810C>T
c.1833C>T (p.Arg611=)
c.1584C>T (p.Arg528=)
c.1492C>T (n.1492C>T)
n.2018C>T
c.1842C>T (p.Arg614=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301628_6301653delinsCTGGTGGACCAAGGCCAGCTTCTCTGCA1435774306WFS1c.1869_1894delinsCTGGTGGACCAAGGCCAGCTTCTCTG (p.Arg623=)
c.1810_1835delinsCTGGTGGACCAAGGCCAGCTTCTCTG
c.1833_1858delinsCTGGTGGACCAAGGCCAGCTTCTCTG (p.Arg611=)
c.1584_1609delinsCTGGTGGACCAAGGCCAGCTTCTCTG (p.Arg528=)
c.1492_1517delinsCTGGTGGACCAAGGCCAGCTTCTCTG (n.1492_1517delinsCTGGTGGACCAAGGCCAGCTTCTCTG)
n.2018_2043delinsCTGGTGGACCAAGGCCAGCTTCTCTG
c.1842_1867delinsCTGGTGGACCAAGGCCAGCTTCTCTG (p.Arg614=)
4g.6301629T>ACA356176924WFS1c.1870T>A (p.Trp624Arg)
c.1811T>A
c.1834T>A (p.Trp612Arg)
c.1585T>A (p.Trp529Arg)
c.1493T>A (n.1493T>A)
n.2019T>A
c.1843T>A (p.Trp615Arg)
4g.6301629T>CCA356176925WFS1c.1870T>C (p.Trp624Arg)
c.1811T>C
c.1834T>C (p.Trp612Arg)
c.1585T>C (p.Trp529Arg)
c.1493T>C (n.1493T>C)
n.2019T>C
c.1843T>C (p.Trp615Arg)
4g.6301629T>GCA356176926WFS1c.1870T>G (p.Trp624Gly)
c.1811T>G
c.1834T>G (p.Trp612Gly)
c.1585T>G (p.Trp529Gly)
c.1493T>G (n.1493T>G)
n.2019T>G
c.1843T>G (p.Trp615Gly)
gnomAD v4
4g.6301635_6301659delCA1058892012WFS1c.1876_1900del (p.Thr626GlyfsTer3)
c.1817_1841del
c.1840_1864del (p.Thr614GlyfsTer3)
c.1591_1615del (p.Thr531GlyfsTer3)
c.1499_1523del (n.1499_1523del)
n.2025_2049del
c.1849_1873del (p.Thr617GlyfsTer3)
dbSNP gnomAD v3 gnomAD v4
4g.6301630G>ACA356176927WFS1c.1871G>A (p.Trp624Ter)
c.1812G>A
c.1835G>A (p.Trp612Ter)
c.1586G>A (p.Trp529Ter)
c.1494G>A (n.1494G>A)
n.2020G>A
c.1844G>A (p.Trp615Ter)
gnomAD v4
4g.6301630G>CCA356176928WFS1c.1871G>C (p.Trp624Ser)
c.1812G>C
c.1835G>C (p.Trp612Ser)
c.1586G>C (p.Trp529Ser)
c.1494G>C (n.1494G>C)
n.2020G>C
c.1844G>C (p.Trp615Ser)
4g.6301630G=CA1435771530WFS1c.1871G= (p.Trp624=)
c.1812G=
c.1835G= (p.Trp612=)
c.1586G= (p.Trp529=)
c.1494G= (n.1494G=)
n.2020G=
c.1844G= (p.Trp615=)
4g.6301630G>TCA356176929WFS1c.1871G>T (p.Trp624Leu)
c.1812G>T
c.1835G>T (p.Trp612Leu)
c.1586G>T (p.Trp529Leu)
c.1494G>T (n.1494G>T)
n.2020G>T
c.1844G>T (p.Trp615Leu)
dbSNP
4g.6301631G>ACA91796630WFS1c.1872G>A (p.Trp624Ter)
c.1813G>A
c.1836G>A (p.Trp612Ter)
c.1587G>A (p.Trp529Ter)
c.1495G>A (n.1495G>A)
n.2021G>A
c.1845G>A (p.Trp615Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301631G>CCA2839514WFS1c.1872G>C (p.Trp624Cys)
c.1813G>C
c.1836G>C (p.Trp612Cys)
c.1587G>C (p.Trp529Cys)
c.1495G>C (n.1495G>C)
n.2021G>C
c.1845G>C (p.Trp615Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301631G=CA1435771532WFS1c.1872G= (p.Trp624=)
c.1813G=
c.1836G= (p.Trp612=)
c.1587G= (p.Trp529=)
c.1495G= (n.1495G=)
n.2021G=
c.1845G= (p.Trp615=)
4g.6301631G>TCA356176930WFS1c.1872G>T (p.Trp624Cys)
c.1813G>T
c.1836G>T (p.Trp612Cys)
c.1587G>T (p.Trp529Cys)
c.1495G>T (n.1495G>T)
n.2021G>T
c.1845G>T (p.Trp615Cys)
dbSNP gnomAD v4
4g.6301632T>ACA356176931WFS1c.1873T>A (p.Trp625Arg)
c.1814T>A
c.1837T>A (p.Trp613Arg)
c.1588T>A (p.Trp530Arg)
c.1496T>A (n.1496T>A)
n.2022T>A
c.1846T>A (p.Trp616Arg)
4g.6301632T>CCA356176932WFS1c.1873T>C (p.Trp625Arg)
c.1814T>C
c.1837T>C (p.Trp613Arg)
c.1588T>C (p.Trp530Arg)
c.1496T>C (n.1496T>C)
n.2022T>C
c.1846T>C (p.Trp616Arg)
gnomAD v4
4g.6301632T>GCA356176933WFS1c.1873T>G (p.Trp625Gly)
c.1814T>G
c.1837T>G (p.Trp613Gly)
c.1588T>G (p.Trp530Gly)
c.1496T>G (n.1496T>G)
n.2022T>G
c.1846T>G (p.Trp616Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6301632T=CA1435771533WFS1c.1873T= (p.Trp625=)
c.1814T=
c.1837T= (p.Trp613=)
c.1588T= (p.Trp530=)
c.1496T= (n.1496T=)
n.2022T=
c.1846T= (p.Trp616=)
4g.6301633G>ACA2839515WFS1c.1874G>A (p.Trp625Ter)
c.1815G>A
c.1838G>A (p.Trp613Ter)
c.1589G>A (p.Trp530Ter)
c.1497G>A (n.1497G>A)
n.2023G>A
c.1847G>A (p.Trp616Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301633G>CCA356176934WFS1c.1874G>C (p.Trp625Ser)
c.1815G>C
c.1838G>C (p.Trp613Ser)
c.1589G>C (p.Trp530Ser)
c.1497G>C (n.1497G>C)
n.2023G>C
c.1847G>C (p.Trp616Ser)
dbSNP
4g.6301633G=CA1435771535WFS1c.1874G= (p.Trp625=)
c.1815G=
c.1838G= (p.Trp613=)
c.1589G= (p.Trp530=)
c.1497G= (n.1497G=)
n.2023G=
c.1847G= (p.Trp616=)
4g.6301633G>TCA356176935WFS1c.1874G>T (p.Trp625Leu)
c.1815G>T
c.1838G>T (p.Trp613Leu)
c.1589G>T (p.Trp530Leu)
c.1497G>T (n.1497G>T)
n.2023G>T
c.1847G>T (p.Trp616Leu)
COSMIC
4g.6301634G>ACA2839516WFS1c.1875G>A (p.Trp625Ter)
c.1816G>A
c.1839G>A (p.Trp613Ter)
c.1590G>A (p.Trp530Ter)
c.1498G>A (n.1498G>A)
n.2024G>A
c.1848G>A (p.Trp616Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301634G>CCA356176936WFS1c.1875G>C (p.Trp625Cys)
c.1816G>C
c.1839G>C (p.Trp613Cys)
c.1590G>C (p.Trp530Cys)
c.1498G>C (n.1498G>C)
n.2024G>C
c.1848G>C (p.Trp616Cys)
4g.6301634G=CA1435771541WFS1c.1875G= (p.Trp625=)
c.1816G=
c.1839G= (p.Trp613=)
c.1590G= (p.Trp530=)
c.1498G= (n.1498G=)
n.2024G=
c.1848G= (p.Trp616=)
4g.6301634G>TCA356176937WFS1c.1875G>T (p.Trp625Cys)
c.1816G>T
c.1839G>T (p.Trp613Cys)
c.1590G>T (p.Trp530Cys)
c.1498G>T (n.1498G>T)
n.2024G>T
c.1848G>T (p.Trp616Cys)
gnomAD v4 COSMIC
4g.6301635A=CA1435771544WFS1c.1876A= (p.Thr626=)
c.1817A=
c.1840A= (p.Thr614=)
c.1591A= (p.Thr531=)
c.1499A= (n.1499A=)
n.2025A=
c.1849A= (p.Thr617=)
4g.6301635A>CCA356176938WFS1c.1876A>C (p.Thr626Pro)
c.1817A>C
c.1840A>C (p.Thr614Pro)
c.1591A>C (p.Thr531Pro)
c.1499A>C (n.1499A>C)
n.2025A>C
c.1849A>C (p.Thr617Pro)
dbSNP gnomAD v2 gnomAD v4
4g.6301635A>GCA356176939WFS1c.1876A>G (p.Thr626Ala)
c.1817A>G
c.1840A>G (p.Thr614Ala)
c.1591A>G (p.Thr531Ala)
c.1499A>G (n.1499A>G)
n.2025A>G
c.1849A>G (p.Thr617Ala)
ClinVar
4g.6301635A>TCA356176940WFS1c.1876A>T (p.Thr626Ser)
c.1817A>T
c.1840A>T (p.Thr614Ser)
c.1591A>T (p.Thr531Ser)
c.1499A>T (n.1499A>T)
n.2025A>T
c.1849A>T (p.Thr617Ser)
4g.6301636C>ACA356176942WFS1c.1877C>A (p.Thr626Asn)
c.1818C>A
c.1841C>A (p.Thr614Asn)
c.1592C>A (p.Thr531Asn)
c.1500C>A (n.1500C>A)
n.2026C>A
c.1850C>A (p.Thr617Asn)
4g.6301636C=CA1435771546WFS1c.1877C= (p.Thr626=)
c.1818C=
c.1841C= (p.Thr614=)
c.1592C= (p.Thr531=)
c.1500C= (n.1500C=)
n.2026C=
c.1850C= (p.Thr617=)
4g.6301636C>GCA2839517WFS1c.1877C>G (p.Thr626Ser)
c.1818C>G
c.1841C>G (p.Thr614Ser)
c.1592C>G (p.Thr531Ser)
c.1500C>G (n.1500C>G)
n.2026C>G
c.1850C>G (p.Thr617Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301636C>TCA356176941WFS1c.1877C>T (p.Thr626Ile)
c.1818C>T
c.1841C>T (p.Thr614Ile)
c.1592C>T (p.Thr531Ile)
c.1500C>T (n.1500C>T)
n.2026C>T
c.1850C>T (p.Thr617Ile)
4g.6301637C>ACA438368477WFS1c.1878C>A (p.Thr626=)
c.1819C>A
c.1842C>A (p.Thr614=)
c.1593C>A (p.Thr531=)
c.1501C>A (n.1501C>A)
n.2027C>A
c.1851C>A (p.Thr617=)
4g.6301637C=CA1435771548WFS1c.1878C= (p.Thr626=)
c.1819C=
c.1842C= (p.Thr614=)
c.1593C= (p.Thr531=)
c.1501C= (n.1501C=)
n.2027C=
c.1851C= (p.Thr617=)
4g.6301637C>GCA438368479WFS1c.1878C>G (p.Thr626=)
c.1819C>G
c.1842C>G (p.Thr614=)
c.1593C>G (p.Thr531=)
c.1501C>G (n.1501C>G)
n.2027C>G
c.1851C>G (p.Thr617=)
gnomAD v4
4g.6301637C>TCA2839518WFS1c.1878C>T (p.Thr626=)
c.1819C>T
c.1842C>T (p.Thr614=)
c.1593C>T (p.Thr531=)
c.1501C>T (n.1501C>T)
n.2027C>T
c.1851C>T (p.Thr617=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301638A>CCA356176943WFS1c.1879A>C (p.Lys627Gln)
c.1820A>C
c.1843A>C (p.Lys615Gln)
c.1594A>C (p.Lys532Gln)
c.1502A>C (n.1502A>C)
n.2028A>C
c.1852A>C (p.Lys618Gln)
4g.6301638A>GCA356176944WFS1c.1879A>G (p.Lys627Glu)
c.1820A>G
c.1843A>G (p.Lys615Glu)
c.1594A>G (p.Lys532Glu)
c.1502A>G (n.1502A>G)
n.2028A>G
c.1852A>G (p.Lys618Glu)
gnomAD v4
4g.6301638A>TCA356176945WFS1c.1879A>T (p.Lys627Ter)
c.1820A>T
c.1843A>T (p.Lys615Ter)
c.1594A>T (p.Lys532Ter)
c.1502A>T (n.1502A>T)
n.2028A>T
c.1852A>T (p.Lys618Ter)
4g.6301639A>CCA356176946WFS1c.1880A>C (p.Lys627Thr)
c.1821A>C
c.1844A>C (p.Lys615Thr)
c.1595A>C (p.Lys532Thr)
c.1503A>C (n.1503A>C)
n.2029A>C
c.1853A>C (p.Lys618Thr)
gnomAD v4
4g.6301639A>GCA356176947WFS1c.1880A>G (p.Lys627Arg)
c.1821A>G
c.1844A>G (p.Lys615Arg)
c.1595A>G (p.Lys532Arg)
c.1503A>G (n.1503A>G)
n.2029A>G
c.1853A>G (p.Lys618Arg)
4g.6301639A>TCA356176948WFS1c.1880A>T (p.Lys627Met)
c.1821A>T
c.1844A>T (p.Lys615Met)
c.1595A>T (p.Lys532Met)
c.1503A>T (n.1503A>T)
n.2029A>T
c.1853A>T (p.Lys618Met)
4g.6301640G>ACA438368489WFS1c.1881G>A (p.Lys627=)
c.1822G>A
c.1845G>A (p.Lys615=)
c.1596G>A (p.Lys532=)
c.1504G>A (n.1504G>A)
n.2030G>A
c.1854G>A (p.Lys618=)
dbSNP gnomAD v4
4g.6301640G>CCA356176949WFS1c.1881G>C (p.Lys627Asn)
c.1822G>C
c.1845G>C (p.Lys615Asn)
c.1596G>C (p.Lys532Asn)
c.1504G>C (n.1504G>C)
n.2030G>C
c.1854G>C (p.Lys618Asn)
dbSNP
4g.6301640G=CA1435771550WFS1c.1881G= (p.Lys627=)
c.1822G=
c.1845G= (p.Lys615=)
c.1596G= (p.Lys532=)
c.1504G= (n.1504G=)
n.2030G=
c.1854G= (p.Lys618=)
4g.6301640G>TCA356176950WFS1c.1881G>T (p.Lys627Asn)
c.1822G>T
c.1845G>T (p.Lys615Asn)
c.1596G>T (p.Lys532Asn)
c.1504G>T (n.1504G>T)
n.2030G>T
c.1854G>T (p.Lys618Asn)
4g.6301641dupCA2669843453WFS1c.1882dup (p.Ala628GlyfsTer?)
c.1823dup
c.1846dup (p.Ala616GlyfsTer?)
c.1597dup (p.Ala533GlyfsTer?)
c.1505dup (n.1505dup)
n.2031dup
c.1855dup (p.Ala619GlyfsTer?)
gnomAD v4
4g.6301641G>ACA356176951WFS1c.1882G>A (p.Ala628Thr)
c.1823G>A
c.1846G>A (p.Ala616Thr)
c.1597G>A (p.Ala533Thr)
c.1505G>A (n.1505G>A)
n.2031G>A
c.1855G>A (p.Ala619Thr)
4g.6301641G>CCA356176952WFS1c.1882G>C (p.Ala628Pro)
c.1823G>C
c.1846G>C (p.Ala616Pro)
c.1597G>C (p.Ala533Pro)
c.1505G>C (n.1505G>C)
n.2031G>C
c.1855G>C (p.Ala619Pro)
ClinVar dbSNP
4g.6301641G=CA1435771552WFS1c.1882G= (p.Ala628=)
c.1823G=
c.1846G= (p.Ala616=)
c.1597G= (p.Ala533=)
c.1505G= (n.1505G=)
n.2031G=
c.1855G= (p.Ala619=)
4g.6301641G>TCA2839519WFS1c.1882G>T (p.Ala628Ser)
c.1823G>T
c.1846G>T (p.Ala616Ser)
c.1597G>T (p.Ala533Ser)
c.1505G>T (n.1505G>T)
n.2031G>T
c.1855G>T (p.Ala619Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301642C>ACA356176954WFS1c.1883C>A (p.Ala628Asp)
c.1824C>A
c.1847C>A (p.Ala616Asp)
c.1598C>A (p.Ala533Asp)
c.1506C>A (n.1506C>A)
n.2032C>A
c.1856C>A (p.Ala619Asp)
gnomAD v4
4g.6301642C=CA1435771556WFS1c.1883C= (p.Ala628=)
c.1824C=
c.1847C= (p.Ala616=)
c.1598C= (p.Ala533=)
c.1506C= (n.1506C=)
n.2032C=
c.1856C= (p.Ala619=)
4g.6301642C>GCA356176955WFS1c.1883C>G (p.Ala628Gly)
c.1824C>G
c.1847C>G (p.Ala616Gly)
c.1598C>G (p.Ala533Gly)
c.1506C>G (n.1506C>G)
n.2032C>G
c.1856C>G (p.Ala619Gly)
4g.6301642C>TCA356176953WFS1c.1883C>T (p.Ala628Val)
c.1824C>T
c.1847C>T (p.Ala616Val)
c.1598C>T (p.Ala533Val)
c.1506C>T (n.1506C>T)
n.2032C>T
c.1856C>T (p.Ala619Val)
dbSNP COSMIC
4g.6301643C>ACA438368491WFS1c.1884C>A (p.Ala628=)
c.1825C>A
c.1848C>A (p.Ala616=)
c.1599C>A (p.Ala533=)
c.1507C>A (n.1507C>A)
n.2033C>A
c.1857C>A (p.Ala619=)
4g.6301643C=CA1435771560WFS1c.1884C= (p.Ala628=)
c.1825C=
c.1848C= (p.Ala616=)
c.1599C= (p.Ala533=)
c.1507C= (n.1507C=)
n.2033C=
c.1857C= (p.Ala619=)
4g.6301643C>GCA438368493WFS1c.1884C>G (p.Ala628=)
c.1825C>G
c.1848C>G (p.Ala616=)
c.1599C>G (p.Ala533=)
c.1507C>G (n.1507C>G)
n.2033C>G
c.1857C>G (p.Ala619=)
gnomAD v4
4g.6301643C>TCA2839520WFS1c.1884C>T (p.Ala628=)
c.1825C>T
c.1848C>T (p.Ala616=)
c.1599C>T (p.Ala533=)
c.1507C>T (n.1507C>T)
n.2033C>T
c.1857C>T (p.Ala619=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301644A=CA1435771563WFS1c.1885A= (p.Ser629=)
c.1826A=
c.1849A= (p.Ser617=)
c.1600A= (p.Ser534=)
c.1508A= (n.1508A=)
n.2034A=
c.1858A= (p.Ser620=)
4g.6301644A>CCA356176956WFS1c.1885A>C (p.Ser629Arg)
c.1826A>C
c.1849A>C (p.Ser617Arg)
c.1600A>C (p.Ser534Arg)
c.1508A>C (n.1508A>C)
n.2034A>C
c.1858A>C (p.Ser620Arg)
dbSNP gnomAD v4
4g.6301644A>GCA356176957WFS1c.1885A>G (p.Ser629Gly)
c.1826A>G
c.1849A>G (p.Ser617Gly)
c.1600A>G (p.Ser534Gly)
c.1508A>G (n.1508A>G)
n.2034A>G
c.1858A>G (p.Ser620Gly)
gnomAD v4
4g.6301644A>TCA356176958WFS1c.1885A>T (p.Ser629Cys)
c.1826A>T
c.1849A>T (p.Ser617Cys)
c.1600A>T (p.Ser534Cys)
c.1508A>T (n.1508A>T)
n.2034A>T
c.1858A>T (p.Ser620Cys)
4g.6301645G>ACA356176959WFS1c.1886G>A (p.Ser629Asn)
c.1827G>A
c.1850G>A (p.Ser617Asn)
c.1601G>A (p.Ser534Asn)
c.1509G>A (n.1509G>A)
n.2035G>A
c.1859G>A (p.Ser620Asn)
gnomAD v4
4g.6301645G>CCA356176960WFS1c.1886G>C (p.Ser629Thr)
c.1827G>C
c.1850G>C (p.Ser617Thr)
c.1601G>C (p.Ser534Thr)
c.1509G>C (n.1509G>C)
n.2035G>C
c.1859G>C (p.Ser620Thr)
dbSNP
4g.6301645G>TCA356176961WFS1c.1886G>T (p.Ser629Ile)
c.1827G>T
c.1850G>T (p.Ser617Ile)
c.1601G>T (p.Ser534Ile)
c.1509G>T (n.1509G>T)
n.2035G>T
c.1859G>T (p.Ser620Ile)
4g.6301646C>ACA356176962WFS1c.1887C>A (p.Ser629Arg)
c.1828C>A
c.1851C>A (p.Ser617Arg)
c.1602C>A (p.Ser534Arg)
c.1510C>A (n.1510C>A)
n.2036C>A
c.1860C>A (p.Ser620Arg)
ClinVar dbSNP gnomAD v4
4g.6301646C=CA1435771571WFS1c.1887C= (p.Ser629=)
c.1828C=
c.1851C= (p.Ser617=)
c.1602C= (p.Ser534=)
c.1510C= (n.1510C=)
n.2036C=
c.1860C= (p.Ser620=)
4g.6301646C>GCA356176963WFS1c.1887C>G (p.Ser629Arg)
c.1828C>G
c.1851C>G (p.Ser617Arg)
c.1602C>G (p.Ser534Arg)
c.1510C>G (n.1510C>G)
n.2036C>G
c.1860C>G (p.Ser620Arg)
4g.6301646C>TCA438368500WFS1c.1887C>T (p.Ser629=)
c.1828C>T
c.1851C>T (p.Ser617=)
c.1602C>T (p.Ser534=)
c.1510C>T (n.1510C>T)
n.2036C>T
c.1860C>T (p.Ser620=)
4g.6301647T>ACA356176964WFS1c.1888T>A (p.Phe630Ile)
c.1829T>A
c.1852T>A (p.Phe618Ile)
c.1603T>A (p.Phe535Ile)
c.1511T>A (n.1511T>A)
n.2037T>A
c.1861T>A (p.Phe621Ile)
4g.6301647T>CCA356176965WFS1c.1888T>C (p.Phe630Leu)
c.1829T>C
c.1852T>C (p.Phe618Leu)
c.1603T>C (p.Phe535Leu)
c.1511T>C (n.1511T>C)
n.2037T>C
c.1861T>C (p.Phe621Leu)
gnomAD v4
4g.6301647T>GCA356176966WFS1c.1888T>G (p.Phe630Val)
c.1829T>G
c.1852T>G (p.Phe618Val)
c.1603T>G (p.Phe535Val)
c.1511T>G (n.1511T>G)
n.2037T>G
c.1861T>G (p.Phe621Val)
4g.6301648T>ACA356176967WFS1c.1889T>A (p.Phe630Tyr)
c.1830T>A
c.1853T>A (p.Phe618Tyr)
c.1604T>A (p.Phe535Tyr)
c.1512T>A (n.1512T>A)
n.2038T>A
c.1862T>A (p.Phe621Tyr)
gnomAD v4
4g.6301648T>CCA356176968WFS1c.1889T>C (p.Phe630Ser)
c.1830T>C
c.1853T>C (p.Phe618Ser)
c.1604T>C (p.Phe535Ser)
c.1512T>C (n.1512T>C)
n.2038T>C
c.1862T>C (p.Phe621Ser)
dbSNP gnomAD v3 gnomAD v4
4g.6301648T>GCA356176969WFS1c.1889T>G (p.Phe630Cys)
c.1830T>G
c.1853T>G (p.Phe618Cys)
c.1604T>G (p.Phe535Cys)
c.1512T>G (n.1512T>G)
n.2038T>G
c.1862T>G (p.Phe621Cys)
gnomAD v4
4g.6301648T=CA1435771574WFS1c.1889T= (p.Phe630=)
c.1830T=
c.1853T= (p.Phe618=)
c.1604T= (p.Phe535=)
c.1512T= (n.1512T=)
n.2038T=
c.1862T= (p.Phe621=)
4g.6301651_6301652delCA2586973637WFS1c.1892_1893del (p.Ser631CysfsTer?)
c.1833_1834del
c.1856_1857del (p.Ser619CysfsTer?)
c.1607_1608del (p.Ser536CysfsTer?)
c.1515_1516del (n.1515_1516del)
n.2041_2042del
c.1865_1866del (p.Ser622CysfsTer?)
4g.6301649C>ACA356176971WFS1c.1890C>A (p.Phe630Leu)
c.1831C>A
c.1854C>A (p.Phe618Leu)
c.1605C>A (p.Phe535Leu)
c.1513C>A (n.1513C>A)
n.2039C>A
c.1863C>A (p.Phe621Leu)
4g.6301649C=CA1435771577WFS1c.1890C= (p.Phe630=)
c.1831C=
c.1854C= (p.Phe618=)
c.1605C= (p.Phe535=)
c.1513C= (n.1513C=)
n.2039C=
c.1863C= (p.Phe621=)
4g.6301649C>GCA356176970WFS1c.1890C>G (p.Phe630Leu)
c.1831C>G
c.1854C>G (p.Phe618Leu)
c.1605C>G (p.Phe535Leu)
c.1513C>G (n.1513C>G)
n.2039C>G
c.1863C>G (p.Phe621Leu)
4g.6301649C>TCA438368501WFS1c.1890C>T (p.Phe630=)
c.1831C>T
c.1854C>T (p.Phe618=)
c.1605C>T (p.Phe535=)
c.1513C>T (n.1513C>T)
n.2039C>T
c.1863C>T (p.Phe621=)
dbSNP gnomAD v4
4g.6301650T>ACA356176972WFS1c.1891T>A (p.Ser631Thr)
c.1832T>A
c.1855T>A (p.Ser619Thr)
c.1606T>A (p.Ser536Thr)
c.1514T>A (n.1514T>A)
n.2040T>A
c.1864T>A (p.Ser622Thr)
4g.6301650T>CCA356176973WFS1c.1891T>C (p.Ser631Pro)
c.1832T>C
c.1855T>C (p.Ser619Pro)
c.1606T>C (p.Ser536Pro)
c.1514T>C (n.1514T>C)
n.2040T>C
c.1864T>C (p.Ser622Pro)
4g.6301650T>GCA356176974WFS1c.1891T>G (p.Ser631Ala)
c.1832T>G
c.1855T>G (p.Ser619Ala)
c.1606T>G (p.Ser536Ala)
c.1514T>G (n.1514T>G)
n.2040T>G
c.1864T>G (p.Ser622Ala)
4g.6301651C>ACA356176975WFS1c.1892C>A (p.Ser631Tyr)
c.1833C>A
c.1856C>A (p.Ser619Tyr)
c.1607C>A (p.Ser536Tyr)
c.1515C>A (n.1515C>A)
n.2041C>A
c.1865C>A (p.Ser622Tyr)
4g.6301651C>GCA356176976WFS1c.1892C>G (p.Ser631Cys)
c.1833C>G
c.1856C>G (p.Ser619Cys)
c.1607C>G (p.Ser536Cys)
c.1515C>G (n.1515C>G)
n.2041C>G
c.1865C>G (p.Ser622Cys)
4g.6301651C>TCA356176977WFS1c.1892C>T (p.Ser631Phe)
c.1833C>T
c.1856C>T (p.Ser619Phe)
c.1607C>T (p.Ser536Phe)
c.1515C>T (n.1515C>T)
n.2041C>T
c.1865C>T (p.Ser622Phe)
ClinVar gnomAD v4
4g.6301652T>ACA438368509WFS1c.1893T>A (p.Ser631=)
c.1834T>A
c.1857T>A (p.Ser619=)
c.1608T>A (p.Ser536=)
c.1516T>A (n.1516T>A)
n.2042T>A
c.1866T>A (p.Ser622=)
4g.6301652T>CCA2839521WFS1c.1893T>C (p.Ser631=)
c.1834T>C
c.1857T>C (p.Ser619=)
c.1608T>C (p.Ser536=)
c.1516T>C (n.1516T>C)
n.2042T>C
c.1866T>C (p.Ser622=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301652T>GCA438368511WFS1c.1893T>G (p.Ser631=)
c.1834T>G
c.1857T>G (p.Ser619=)
c.1608T>G (p.Ser536=)
c.1516T>G (n.1516T>G)
n.2042T>G
c.1866T>G (p.Ser622=)
4g.6301652T=CA1435771579WFS1c.1893T= (p.Ser631=)
c.1834T=
c.1857T= (p.Ser619=)
c.1608T= (p.Ser536=)
c.1516T= (n.1516T=)
n.2042T=
c.1866T= (p.Ser622=)
4g.6301653G>ACA356176978WFS1c.1894G>A (p.Val632Met)
c.1835G>A
c.1858G>A (p.Val620Met)
c.1609G>A (p.Val537Met)
c.1517G>A (n.1517G>A)
n.2043G>A
c.1867G>A (p.Val623Met)
ClinVar dbSNP gnomAD v4
4g.6301653G>CCA2839522WFS1c.1894G>C (p.Val632Leu)
c.1835G>C
c.1858G>C (p.Val620Leu)
c.1609G>C (p.Val537Leu)
c.1517G>C (n.1517G>C)
n.2043G>C
c.1867G>C (p.Val623Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301653G=CA1435771583WFS1c.1894G= (p.Val632=)
c.1835G=
c.1858G= (p.Val620=)
c.1609G= (p.Val537=)
c.1517G= (n.1517G=)
n.2043G=
c.1867G= (p.Val623=)
4g.6301653G>TCA356176979WFS1c.1894G>T (p.Val632Leu)
c.1835G>T
c.1858G>T (p.Val620Leu)
c.1609G>T (p.Val537Leu)
c.1517G>T (n.1517G>T)
n.2043G>T
c.1867G>T (p.Val623Leu)
dbSNP
4g.6301654T>ACA356176980WFS1c.1895T>A (p.Val632Glu)
c.1836T>A
c.1859T>A (p.Val620Glu)
c.1610T>A (p.Val537Glu)
c.1518T>A (n.1518T>A)
n.2044T>A
c.1868T>A (p.Val623Glu)
4g.6301654T>CCA2839524WFS1c.1895T>C (p.Val632Ala)
c.1836T>C
c.1859T>C (p.Val620Ala)
c.1610T>C (p.Val537Ala)
c.1518T>C (n.1518T>C)
n.2044T>C
c.1868T>C (p.Val623Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301654T>GCA2839523WFS1c.1895T>G (p.Val632Gly)
c.1836T>G
c.1859T>G (p.Val620Gly)
c.1610T>G (p.Val537Gly)
c.1518T>G (n.1518T>G)
n.2044T>G
c.1868T>G (p.Val623Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301654T=CA1435771587WFS1c.1895T= (p.Val632=)
c.1836T=
c.1859T= (p.Val620=)
c.1610T= (p.Val537=)
c.1518T= (n.1518T=)
n.2044T=
c.1868T= (p.Val623=)
4g.6301655G>ACA438368515WFS1c.1896G>A (p.Val632=)
c.1837G>A
c.1860G>A (p.Val620=)
c.1611G>A (p.Val537=)
c.1519G>A (n.1519G>A)
n.2045G>A
c.1869G>A (p.Val623=)
4g.6301655G>CCA438368516WFS1c.1896G>C (p.Val632=)
c.1837G>C
c.1860G>C (p.Val620=)
c.1611G>C (p.Val537=)
c.1519G>C (n.1519G>C)
n.2045G>C
c.1869G>C (p.Val623=)
4g.6301655G>TCA438368517WFS1c.1896G>T (p.Val632=)
c.1837G>T
c.1860G>T (p.Val620=)
c.1611G>T (p.Val537=)
c.1519G>T (n.1519G>T)
n.2045G>T
c.1869G>T (p.Val623=)
4g.6301656G>ACA356176986WFS1c.1897G>A (p.Val633Met)
c.1838G>A
c.1861G>A (p.Val621Met)
c.1612G>A (p.Val538Met)
c.1520G>A (n.1520G>A)
n.2046G>A
c.1870G>A (p.Val624Met)
4g.6301656G>CCA356176984WFS1c.1897G>C (p.Val633Leu)
c.1838G>C
c.1861G>C (p.Val621Leu)
c.1612G>C (p.Val538Leu)
c.1520G>C (n.1520G>C)
n.2046G>C
c.1870G>C (p.Val624Leu)
4g.6301656G>TCA356176982WFS1c.1897G>T (p.Val633Leu)
c.1838G>T
c.1861G>T (p.Val621Leu)
c.1612G>T (p.Val538Leu)
c.1520G>T (n.1520G>T)
n.2046G>T
c.1870G>T (p.Val624Leu)
4g.6301657T>ACA356176988WFS1c.1898T>A (p.Val633Glu)
c.1839T>A
c.1862T>A (p.Val621Glu)
c.1613T>A (p.Val538Glu)
c.1521T>A (n.1521T>A)
n.2047T>A
c.1871T>A (p.Val624Glu)
gnomAD v4
4g.6301657T>CCA356176991WFS1c.1898T>C (p.Val633Ala)
c.1839T>C
c.1862T>C (p.Val621Ala)
c.1613T>C (p.Val538Ala)
c.1521T>C (n.1521T>C)
n.2047T>C
c.1871T>C (p.Val624Ala)
gnomAD v4
4g.6301657T>GCA356176990WFS1c.1898T>G (p.Val633Gly)
c.1839T>G
c.1862T>G (p.Val621Gly)
c.1613T>G (p.Val538Gly)
c.1521T>G (n.1521T>G)
n.2047T>G
c.1871T>G (p.Val624Gly)
4g.6301658G>ACA438368519WFS1c.1899G>A (p.Val633=)
c.1840G>A
c.1863G>A (p.Val621=)
c.1614G>A (p.Val538=)
c.1522G>A (n.1522G>A)
n.2048G>A
c.1872G>A (p.Val624=)
dbSNP gnomAD v2 gnomAD v4
4g.6301658G>CCA2839525WFS1c.1899G>C (p.Val633=)
c.1840G>C
c.1863G>C (p.Val621=)
c.1614G>C (p.Val538=)
c.1522G>C (n.1522G>C)
n.2048G>C
c.1872G>C (p.Val624=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301658G=CA1435771594WFS1c.1899G= (p.Val633=)
c.1840G=
c.1863G= (p.Val621=)
c.1614G= (p.Val538=)
c.1522G= (n.1522G=)
n.2048G=
c.1872G= (p.Val624=)
4g.6301658G>TCA438368520WFS1c.1899G>T (p.Val633=)
c.1840G>T
c.1863G>T (p.Val621=)
c.1614G>T (p.Val538=)
c.1522G>T (n.1522G>T)
n.2048G>T
c.1872G>T (p.Val624=)
4g.6301659G>ACA356176994WFS1c.1900G>A (p.Gly634Arg)
c.1841G>A
c.1864G>A (p.Gly622Arg)
c.1615G>A (p.Gly539Arg)
c.1523G>A (n.1523G>A)
n.2049G>A
c.1873G>A (p.Gly625Arg)
4g.6301659G>CCA356176996WFS1c.1900G>C (p.Gly634Arg)
c.1841G>C
c.1864G>C (p.Gly622Arg)
c.1615G>C (p.Gly539Arg)
c.1523G>C (n.1523G>C)
n.2049G>C
c.1873G>C (p.Gly625Arg)
4g.6301659G>TCA356176997WFS1c.1900G>T (p.Gly634Trp)
c.1841G>T
c.1864G>T (p.Gly622Trp)
c.1615G>T (p.Gly539Trp)
c.1523G>T (n.1523G>T)
n.2049G>T
c.1873G>T (p.Gly625Trp)
4g.6301660G>ACA356176999WFS1c.1901G>A (p.Gly634Glu)
c.1842G>A
c.1865G>A (p.Gly622Glu)
c.1616G>A (p.Gly539Glu)
c.1524G>A (n.1524G>A)
n.2050G>A
c.1874G>A (p.Gly625Glu)
gnomAD v4
4g.6301660G>CCA356177000WFS1c.1901G>C (p.Gly634Ala)
c.1842G>C
c.1865G>C (p.Gly622Ala)
c.1616G>C (p.Gly539Ala)
c.1524G>C (n.1524G>C)
n.2050G>C
c.1874G>C (p.Gly625Ala)
gnomAD v4
4g.6301660G=CA1435771598WFS1c.1901G= (p.Gly634=)
c.1842G=
c.1865G= (p.Gly622=)
c.1616G= (p.Gly539=)
c.1524G= (n.1524G=)
n.2050G=
c.1874G= (p.Gly625=)
4g.6301660G>TCA2839526WFS1c.1901G>T (p.Gly634Val)
c.1842G>T
c.1865G>T (p.Gly622Val)
c.1616G>T (p.Gly539Val)
c.1524G>T (n.1524G>T)
n.2050G>T
c.1874G>T (p.Gly625Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301661G>ACA91796655WFS1c.1902G>A (p.Gly634=)
c.1843G>A
c.1866G>A (p.Gly622=)
c.1617G>A (p.Gly539=)
c.1525G>A (n.1525G>A)
n.2051G>A
c.1875G>A (p.Gly625=)
dbSNP gnomAD v4
4g.6301661G>CCA438368527WFS1c.1902G>C (p.Gly634=)
c.1843G>C
c.1866G>C (p.Gly622=)
c.1617G>C (p.Gly539=)
c.1525G>C (n.1525G>C)
n.2051G>C
c.1875G>C (p.Gly625=)
4g.6301661G=CA1435771600WFS1c.1902G= (p.Gly634=)
c.1843G=
c.1866G= (p.Gly622=)
c.1617G= (p.Gly539=)
c.1525G= (n.1525G=)
n.2051G=
c.1875G= (p.Gly625=)
4g.6301661G>TCA438368525WFS1c.1902G>T (p.Gly634=)
c.1843G>T
c.1866G>T (p.Gly622=)
c.1617G>T (p.Gly539=)
c.1525G>T (n.1525G>T)
n.2051G>T
c.1875G>T (p.Gly625=)
dbSNP gnomAD v3 gnomAD v4
4g.6301662delCA2586973638WFS1c.1903del (p.Met635TrpfsTer2)
c.1844del
c.1867del (p.Met623TrpfsTer2)
c.1618del (p.Met540TrpfsTer2)
c.1526del (n.1526del)
n.2052del
c.1876del (p.Met626TrpfsTer2)
4g.6301662A=CA1435771605WFS1c.1903A= (p.Met635=)
c.1844A=
c.1867A= (p.Met623=)
c.1618A= (p.Met540=)
c.1526A= (n.1526A=)
n.2052A=
c.1876A= (p.Met626=)
4g.6301662A>CCA356177002WFS1c.1903A>C (p.Met635Leu)
c.1844A>C
c.1867A>C (p.Met623Leu)
c.1618A>C (p.Met540Leu)
c.1526A>C (n.1526A>C)
n.2052A>C
c.1876A>C (p.Met626Leu)
4g.6301662A>GCA356177003WFS1c.1903A>G (p.Met635Val)
c.1844A>G
c.1867A>G (p.Met623Val)
c.1618A>G (p.Met540Val)
c.1526A>G (n.1526A>G)
n.2052A>G
c.1876A>G (p.Met626Val)
dbSNP gnomAD v2 gnomAD v4
4g.6301662A>TCA356177004WFS1c.1903A>T (p.Met635Leu)
c.1844A>T
c.1867A>T (p.Met623Leu)
c.1618A>T (p.Met540Leu)
c.1526A>T (n.1526A>T)
n.2052A>T
c.1876A>T (p.Met626Leu)
4g.6301663T>ACA16609252WFS1c.1904T>A (p.Met635Lys)
c.1845T>A
c.1868T>A (p.Met623Lys)
c.1619T>A (p.Met540Lys)
c.1527T>A (n.1527T>A)
n.2053T>A
c.1877T>A (p.Met626Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6301663T>CCA2839527WFS1c.1904T>C (p.Met635Thr)
c.1845T>C
c.1868T>C (p.Met623Thr)
c.1619T>C (p.Met540Thr)
c.1527T>C (n.1527T>C)
n.2053T>C
c.1877T>C (p.Met626Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301663T>GCA356177005WFS1c.1904T>G (p.Met635Arg)
c.1845T>G
c.1868T>G (p.Met623Arg)
c.1619T>G (p.Met540Arg)
c.1527T>G (n.1527T>G)
n.2053T>G
c.1877T>G (p.Met626Arg)
ClinVar gnomAD v4
4g.6301663T=CA1435771609WFS1c.1904T= (p.Met635=)
c.1845T=
c.1868T= (p.Met623=)
c.1619T= (p.Met540=)
c.1527T= (n.1527T=)
n.2053T=
c.1877T= (p.Met626=)
4g.6301665_6301667delCA2669843455WFS1c.1906_1908del (p.Val636del)
c.1847_1849del
c.1870_1872del (p.Val624del)
c.1621_1623del (p.Val541del)
c.1529_1531del (n.1529_1531del)
n.2055_2057del
c.1879_1881del (p.Val627del)
gnomAD v4
4g.6301664G>ACA2839528WFS1c.1905G>A (p.Met635Ile)
c.1846G>A
c.1869G>A (p.Met623Ile)
c.1620G>A (p.Met540Ile)
c.1528G>A (n.1528G>A)
n.2054G>A
c.1878G>A (p.Met626Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301664G>CCA356177006WFS1c.1905G>C (p.Met635Ile)
c.1846G>C
c.1869G>C (p.Met623Ile)
c.1620G>C (p.Met540Ile)
c.1528G>C (n.1528G>C)
n.2054G>C
c.1878G>C (p.Met626Ile)
4g.6301664G=CA1435771613WFS1c.1905G= (p.Met635=)
c.1846G=
c.1869G= (p.Met623=)
c.1620G= (p.Met540=)
c.1528G= (n.1528G=)
n.2054G=
c.1878G= (p.Met626=)
4g.6301664G>TCA356177007WFS1c.1905G>T (p.Met635Ile)
c.1846G>T
c.1869G>T (p.Met623Ile)
c.1620G>T (p.Met540Ile)
c.1528G>T (n.1528G>T)
n.2054G>T
c.1878G>T (p.Met626Ile)
4g.6301665G>ACA356177008WFS1c.1906G>A (p.Val636Met)
c.1847G>A
c.1870G>A (p.Val624Met)
c.1621G>A (p.Val541Met)
c.1529G>A (n.1529G>A)
n.2055G>A
c.1879G>A (p.Val627Met)
gnomAD v4
4g.6301665G>CCA356177009WFS1c.1906G>C (p.Val636Leu)
c.1847G>C
c.1870G>C (p.Val624Leu)
c.1621G>C (p.Val541Leu)
c.1529G>C (n.1529G>C)
n.2055G>C
c.1879G>C (p.Val627Leu)
4g.6301665G>TCA356177010WFS1c.1906G>T (p.Val636Leu)
c.1847G>T
c.1870G>T (p.Val624Leu)
c.1621G>T (p.Val541Leu)
c.1529G>T (n.1529G>T)
n.2055G>T
c.1879G>T (p.Val627Leu)
4g.6301666T>ACA356177011WFS1c.1907T>A (p.Val636Glu)
c.1848T>A
c.1871T>A (p.Val624Glu)
c.1622T>A (p.Val541Glu)
c.1530T>A (n.1530T>A)
n.2056T>A
c.1880T>A (p.Val627Glu)
4g.6301666T>CCA2839529WFS1c.1907T>C (p.Val636Ala)
c.1848T>C
c.1871T>C (p.Val624Ala)
c.1622T>C (p.Val541Ala)
c.1530T>C (n.1530T>C)
n.2056T>C
c.1880T>C (p.Val627Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301666T>GCA356177012WFS1c.1907T>G (p.Val636Gly)
c.1848T>G
c.1871T>G (p.Val624Gly)
c.1622T>G (p.Val541Gly)
c.1530T>G (n.1530T>G)
n.2056T>G
c.1880T>G (p.Val627Gly)
ClinVar dbSNP
4g.6301666T=CA1435771618WFS1c.1907T= (p.Val636=)
c.1848T=
c.1871T= (p.Val624=)
c.1622T= (p.Val541=)
c.1530T= (n.1530T=)
n.2056T=
c.1880T= (p.Val627=)
4g.6301667G>ACA438368539WFS1c.1908G>A (p.Val636=)
c.1849G>A
c.1872G>A (p.Val624=)
c.1623G>A (p.Val541=)
c.1531G>A (n.1531G>A)
n.2057G>A
c.1881G>A (p.Val627=)
ClinVar
4g.6301667G>CCA438368540WFS1c.1908G>C (p.Val636=)
c.1849G>C
c.1872G>C (p.Val624=)
c.1623G>C (p.Val541=)
c.1531G>C (n.1531G>C)
n.2057G>C
c.1881G>C (p.Val627=)
4g.6301667G>TCA438368542WFS1c.1908G>T (p.Val636=)
c.1849G>T
c.1872G>T (p.Val624=)
c.1623G>T (p.Val541=)
c.1531G>T (n.1531G>T)
n.2057G>T
c.1881G>T (p.Val627=)
gnomAD v4
4g.6301668A>CCA356177013WFS1c.1909A>C (p.Lys637Gln)
c.1850A>C
c.1873A>C (p.Lys625Gln)
c.1624A>C (p.Lys542Gln)
c.1532A>C (n.1532A>C)
n.2058A>C
c.1882A>C (p.Lys628Gln)
gnomAD v4
4g.6301668A>GCA356177014WFS1c.1909A>G (p.Lys637Glu)
c.1850A>G
c.1873A>G (p.Lys625Glu)
c.1624A>G (p.Lys542Glu)
c.1532A>G (n.1532A>G)
n.2058A>G
c.1882A>G (p.Lys628Glu)
4g.6301668A>TCA356177015WFS1c.1909A>T (p.Lys637Ter)
c.1850A>T
c.1873A>T (p.Lys625Ter)
c.1624A>T (p.Lys542Ter)
c.1532A>T (n.1532A>T)
n.2058A>T
c.1882A>T (p.Lys628Ter)
4g.6301669A>CCA356177018WFS1c.1910A>C (p.Lys637Thr)
c.1851A>C
c.1874A>C (p.Lys625Thr)
c.1625A>C (p.Lys542Thr)
c.1533A>C (n.1533A>C)
n.2059A>C
c.1883A>C (p.Lys628Thr)
4g.6301669A>GCA356177017WFS1c.1910A>G (p.Lys637Arg)
c.1851A>G
c.1874A>G (p.Lys625Arg)
c.1625A>G (p.Lys542Arg)
c.1533A>G (n.1533A>G)
n.2059A>G
c.1883A>G (p.Lys628Arg)
4g.6301669A>TCA356177016WFS1c.1910A>T (p.Lys637Met)
c.1851A>T
c.1874A>T (p.Lys625Met)
c.1625A>T (p.Lys542Met)
c.1533A>T (n.1533A>T)
n.2059A>T
c.1883A>T (p.Lys628Met)
4g.6301670G>ACA438368544WFS1c.1911G>A (p.Lys637=)
c.1852G>A
c.1875G>A (p.Lys625=)
c.1626G>A (p.Lys542=)
c.1534G>A (n.1534G>A)
n.2060G>A
c.1884G>A (p.Lys628=)
ClinVar
4g.6301670G>CCA356177019WFS1c.1911G>C (p.Lys637Asn)
c.1852G>C
c.1875G>C (p.Lys625Asn)
c.1626G>C (p.Lys542Asn)
c.1534G>C (n.1534G>C)
n.2060G>C
c.1884G>C (p.Lys628Asn)
4g.6301670G>TCA356177020WFS1c.1911G>T (p.Lys637Asn)
c.1852G>T
c.1875G>T (p.Lys625Asn)
c.1626G>T (p.Lys542Asn)
c.1534G>T (n.1534G>T)
n.2060G>T
c.1884G>T (p.Lys628Asn)
4g.6301671T>ACA356177021WFS1c.1912T>A (p.Ser638Thr)
c.1853T>A
c.1876T>A (p.Ser626Thr)
c.1627T>A (p.Ser543Thr)
c.1535T>A (n.1535T>A)
n.2061T>A
c.1885T>A (p.Ser629Thr)
4g.6301671T>CCA356177023WFS1c.1912T>C (p.Ser638Pro)
c.1853T>C
c.1876T>C (p.Ser626Pro)
c.1627T>C (p.Ser543Pro)
c.1535T>C (n.1535T>C)
n.2061T>C
c.1885T>C (p.Ser629Pro)
4g.6301671T>GCA356177022WFS1c.1912T>G (p.Ser638Ala)
c.1853T>G
c.1876T>G (p.Ser626Ala)
c.1627T>G (p.Ser543Ala)
c.1535T>G (n.1535T>G)
n.2061T>G
c.1885T>G (p.Ser629Ala)
dbSNP
4g.6301671T=CA1435771623WFS1c.1912T= (p.Ser638=)
c.1853T=
c.1876T= (p.Ser626=)
c.1627T= (p.Ser543=)
c.1535T= (n.1535T=)
n.2061T=
c.1885T= (p.Ser629=)
4g.6301672C>ACA356177024WFS1c.1913C>A (p.Ser638Tyr)
c.1854C>A
c.1877C>A (p.Ser626Tyr)
c.1628C>A (p.Ser543Tyr)
c.1536C>A (n.1536C>A)
n.2062C>A
c.1886C>A (p.Ser629Tyr)
4g.6301672C=CA1435771627WFS1c.1913C= (p.Ser638=)
c.1854C=
c.1877C= (p.Ser626=)
c.1628C= (p.Ser543=)
c.1536C= (n.1536C=)
n.2062C=
c.1886C= (p.Ser629=)
4g.6301672C>GCA356177025WFS1c.1913C>G (p.Ser638Cys)
c.1854C>G
c.1877C>G (p.Ser626Cys)
c.1628C>G (p.Ser543Cys)
c.1536C>G (n.1536C>G)
n.2062C>G
c.1886C>G (p.Ser629Cys)
4g.6301672C>TCA2839530WFS1c.1913C>T (p.Ser638Phe)
c.1854C>T
c.1877C>T (p.Ser626Phe)
c.1628C>T (p.Ser543Phe)
c.1536C>T (n.1536C>T)
n.2062C>T
c.1886C>T (p.Ser629Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301673C>ACA438368545WFS1c.1914C>A (p.Ser638=)
c.1855C>A
c.1878C>A (p.Ser626=)
c.1629C>A (p.Ser543=)
c.1537C>A (n.1537C>A)
n.2063C>A
c.1887C>A (p.Ser629=)
gnomAD v4
4g.6301673C>GCA438368548WFS1c.1914C>G (p.Ser638=)
c.1855C>G
c.1878C>G (p.Ser626=)
c.1629C>G (p.Ser543=)
c.1537C>G (n.1537C>G)
n.2063C>G
c.1887C>G (p.Ser629=)
4g.6301673C>TCA438368546WFS1c.1914C>T (p.Ser638=)
c.1855C>T
c.1878C>T (p.Ser626=)
c.1629C>T (p.Ser543=)
c.1537C>T (n.1537C>T)
n.2063C>T
c.1887C>T (p.Ser629=)
ClinVar dbSNP gnomAD v4
4g.6301674C>ACA356177026WFS1c.1915C>A (p.Leu639Met)
c.1856C>A
c.1879C>A (p.Leu627Met)
c.1630C>A (p.Leu544Met)
c.1538C>A (n.1538C>A)
n.2064C>A
c.1888C>A (p.Leu630Met)
4g.6301674C=CA1435771633WFS1c.1915C= (p.Leu639=)
c.1856C=
c.1879C= (p.Leu627=)
c.1630C= (p.Leu544=)
c.1538C= (n.1538C=)
n.2064C=
c.1888C= (p.Leu630=)
4g.6301674C>GCA2839531WFS1c.1915C>G (p.Leu639Val)
c.1856C>G
c.1879C>G (p.Leu627Val)
c.1630C>G (p.Leu544Val)
c.1538C>G (n.1538C>G)
n.2064C>G
c.1888C>G (p.Leu630Val)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301674C>TCA438368549WFS1c.1915C>T (p.Leu639=)
c.1856C>T
c.1879C>T (p.Leu627=)
c.1630C>T (p.Leu544=)
c.1538C>T (n.1538C>T)
n.2064C>T
c.1888C>T (p.Leu630=)
ClinVar dbSNP
4g.6301675T>ACA356177027WFS1c.1916T>A (p.Leu639Gln)
c.1857T>A
c.1880T>A (p.Leu627Gln)
c.1631T>A (p.Leu544Gln)
c.1539T>A (n.1539T>A)
n.2065T>A
c.1889T>A (p.Leu630Gln)
4g.6301675T>CCA356177028WFS1c.1916T>C (p.Leu639Pro)
c.1857T>C
c.1880T>C (p.Leu627Pro)
c.1631T>C (p.Leu544Pro)
c.1539T>C (n.1539T>C)
n.2065T>C
c.1889T>C (p.Leu630Pro)
4g.6301675T>GCA356177029WFS1c.1916T>G (p.Leu639Arg)
c.1857T>G
c.1880T>G (p.Leu627Arg)
c.1631T>G (p.Leu544Arg)
c.1539T>G (n.1539T>G)
n.2065T>G
c.1889T>G (p.Leu630Arg)
4g.6301676G>ACA438368553WFS1c.1917G>A (p.Leu639=)
c.1858G>A
c.1881G>A (p.Leu627=)
c.1632G>A (p.Leu544=)
c.1540G>A (n.1540G>A)
n.2066G>A
c.1890G>A (p.Leu630=)
4g.6301676G>CCA438368557WFS1c.1917G>C (p.Leu639=)
c.1858G>C
c.1881G>C (p.Leu627=)
c.1632G>C (p.Leu544=)
c.1540G>C (n.1540G>C)
n.2066G>C
c.1890G>C (p.Leu630=)
4g.6301676G>TCA438368560WFS1c.1917G>T (p.Leu639=)
c.1858G>T
c.1881G>T (p.Leu627=)
c.1632G>T (p.Leu544=)
c.1540G>T (n.1540G>T)
n.2066G>T
c.1890G>T (p.Leu630=)
4g.6301677A>CCA356177030WFS1c.1918A>C (p.Thr640Pro)
c.1859A>C
c.1882A>C (p.Thr628Pro)
c.1633A>C (p.Thr545Pro)
c.1541A>C (n.1541A>C)
n.2067A>C
c.1891A>C (p.Thr631Pro)
gnomAD v4
4g.6301677A>GCA356177031WFS1c.1918A>G (p.Thr640Ala)
c.1859A>G
c.1882A>G (p.Thr628Ala)
c.1633A>G (p.Thr545Ala)
c.1541A>G (n.1541A>G)
n.2067A>G
c.1891A>G (p.Thr631Ala)
4g.6301677A>TCA356177032WFS1c.1918A>T (p.Thr640Ser)
c.1859A>T
c.1882A>T (p.Thr628Ser)
c.1633A>T (p.Thr545Ser)
c.1541A>T (n.1541A>T)
n.2067A>T
c.1891A>T (p.Thr631Ser)
4g.6301678C>ACA356177033WFS1c.1919C>A (p.Thr640Lys)
c.1860C>A
c.1883C>A (p.Thr628Lys)
c.1634C>A (p.Thr545Lys)
c.1542C>A (n.1542C>A)
n.2068C>A
c.1892C>A (p.Thr631Lys)
gnomAD v4
4g.6301678C=CA1435771636WFS1c.1919C= (p.Thr640=)
c.1860C=
c.1883C= (p.Thr628=)
c.1634C= (p.Thr545=)
c.1542C= (n.1542C=)
n.2068C=
c.1892C= (p.Thr631=)
4g.6301678C>GCA2839532WFS1c.1919C>G (p.Thr640Arg)
c.1860C>G
c.1883C>G (p.Thr628Arg)
c.1634C>G (p.Thr545Arg)
c.1542C>G (n.1542C>G)
n.2068C>G
c.1892C>G (p.Thr631Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301678C>TCA2839533WFS1c.1919C>T (p.Thr640Met)
c.1860C>T
c.1883C>T (p.Thr628Met)
c.1634C>T (p.Thr545Met)
c.1542C>T (n.1542C>T)
n.2068C>T
c.1892C>T (p.Thr631Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301679G>ACA2839534WFS1c.1920G>A (p.Thr640=)
c.1861G>A
c.1884G>A (p.Thr628=)
c.1635G>A (p.Thr545=)
c.1543G>A (n.1543G>A)
n.2069G>A
c.1893G>A (p.Thr631=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6301679G>CCA438368563WFS1c.1920G>C (p.Thr640=)
c.1861G>C
c.1884G>C (p.Thr628=)
c.1635G>C (p.Thr545=)
c.1543G>C (n.1543G>C)
n.2069G>C
c.1893G>C (p.Thr631=)
4g.6301679G=CA1435771639WFS1c.1920G= (p.Thr640=)
c.1861G=
c.1884G= (p.Thr628=)
c.1635G= (p.Thr545=)
c.1543G= (n.1543G=)
n.2069G=
c.1893G= (p.Thr631=)
4g.6301679G>TCA91796666WFS1c.1920G>T (p.Thr640=)
c.1861G>T
c.1884G>T (p.Thr628=)
c.1635G>T (p.Thr545=)
c.1543G>T (n.1543G>T)
n.2069G>T
c.1893G>T (p.Thr631=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301680C>ACA438368565WFS1c.1921C>A (p.Arg641=)
c.1862C>A
c.1885C>A (p.Arg629=)
c.1636C>A (p.Arg546=)
c.1544C>A (n.1544C>A)
n.2070C>A
c.1894C>A (p.Arg632=)
4g.6301680C=CA1435771642WFS1c.1921C= (p.Arg641=)
c.1862C=
c.1885C= (p.Arg629=)
c.1636C= (p.Arg546=)
c.1544C= (n.1544C=)
n.2070C=
c.1894C= (p.Arg632=)
4g.6301680C>GCA356177034WFS1c.1921C>G (p.Arg641Gly)
c.1862C>G
c.1885C>G (p.Arg629Gly)
c.1636C>G (p.Arg546Gly)
c.1544C>G (n.1544C>G)
n.2070C>G
c.1894C>G (p.Arg632Gly)
4g.6301680C>TCA2839535WFS1c.1921C>T (p.Arg641Trp)
c.1862C>T
c.1885C>T (p.Arg629Trp)
c.1636C>T (p.Arg546Trp)
c.1544C>T (n.1544C>T)
n.2070C>T
c.1894C>T (p.Arg632Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301680_6301681insTCA2669843456WFS1c.1921_1922insT (p.Arg641LeufsTer?)
c.1862_1863insT
c.1885_1886insT (p.Arg629LeufsTer?)
c.1636_1637insT (p.Arg546LeufsTer?)
c.1544_1545insT (n.1544_1545insT)
n.2070_2071insT
c.1894_1895insT (p.Arg632LeufsTer?)
gnomAD v4
4g.6301681G>ACA261748WFS1c.1922G>A (p.Arg641Gln)
c.1863G>A
c.1886G>A (p.Arg629Gln)
c.1637G>A (p.Arg546Gln)
c.1545G>A (n.1545G>A)
n.2071G>A
c.1895G>A (p.Arg632Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301681G>CCA356177035WFS1c.1922G>C (p.Arg641Pro)
c.1863G>C
c.1886G>C (p.Arg629Pro)
c.1637G>C (p.Arg546Pro)
c.1545G>C (n.1545G>C)
n.2071G>C
c.1895G>C (p.Arg632Pro)
4g.6301681G=CA1435771649WFS1c.1922G= (p.Arg641=)
c.1863G=
c.1886G= (p.Arg629=)
c.1637G= (p.Arg546=)
c.1545G= (n.1545G=)
n.2071G=
c.1895G= (p.Arg632=)
4g.6301681G>TCA356177036WFS1c.1922G>T (p.Arg641Leu)
c.1863G>T
c.1886G>T (p.Arg629Leu)
c.1637G>T (p.Arg546Leu)
c.1545G>T (n.1545G>T)
n.2071G>T
c.1895G>T (p.Arg632Leu)
4g.6301682G>ACA438368571WFS1c.1923G>A (p.Arg641=)
c.1864G>A
c.1887G>A (p.Arg629=)
c.1638G>A (p.Arg546=)
c.1546G>A (n.1546G>A)
n.2072G>A
c.1896G>A (p.Arg632=)
gnomAD v4
4g.6301682G>CCA438368570WFS1c.1923G>C (p.Arg641=)
c.1864G>C
c.1887G>C (p.Arg629=)
c.1638G>C (p.Arg546=)
c.1546G>C (n.1546G>C)
n.2072G>C
c.1896G>C (p.Arg632=)
gnomAD v4
4g.6301682G>TCA438368567WFS1c.1923G>T (p.Arg641=)
c.1864G>T
c.1887G>T (p.Arg629=)
c.1638G>T (p.Arg546=)
c.1546G>T (n.1546G>T)
n.2072G>T
c.1896G>T (p.Arg632=)
gnomAD v4
4g.6301683A>CCA356177037WFS1c.1924A>C (p.Ser642Arg)
c.1865A>C
c.1888A>C (p.Ser630Arg)
c.1639A>C (p.Ser547Arg)
c.1547A>C (n.1547A>C)
n.2073A>C
c.1897A>C (p.Ser633Arg)
4g.6301683A>GCA356177038WFS1c.1924A>G (p.Ser642Gly)
c.1865A>G
c.1888A>G (p.Ser630Gly)
c.1639A>G (p.Ser547Gly)
c.1547A>G (n.1547A>G)
n.2073A>G
c.1897A>G (p.Ser633Gly)
4g.6301683A>TCA356177039WFS1c.1924A>T (p.Ser642Cys)
c.1865A>T
c.1888A>T (p.Ser630Cys)
c.1639A>T (p.Ser547Cys)
c.1547A>T (n.1547A>T)
n.2073A>T
c.1897A>T (p.Ser633Cys)
gnomAD v4
4g.6301683_6301685delCA2669843457WFS1c.1924_1926del (p.Ser642del)
c.1865_1867del
c.1888_1890del (p.Ser630del)
c.1639_1641del (p.Ser547del)
c.1547_1549del (n.1547_1549del)
n.2073_2075del
c.1897_1899del (p.Ser633del)
gnomAD v4
4g.6301684G>ACA356177040WFS1c.1925G>A (p.Ser642Asn)
c.1866G>A
c.1889G>A (p.Ser630Asn)
c.1640G>A (p.Ser547Asn)
c.1548G>A (n.1548G>A)
n.2074G>A
c.1898G>A (p.Ser633Asn)
4g.6301684G>CCA356177041WFS1c.1925G>C (p.Ser642Thr)
c.1866G>C
c.1889G>C (p.Ser630Thr)
c.1640G>C (p.Ser547Thr)
c.1548G>C (n.1548G>C)
n.2074G>C
c.1898G>C (p.Ser633Thr)
4g.6301684G>TCA356177042WFS1c.1925G>T (p.Ser642Ile)
c.1866G>T
c.1889G>T (p.Ser630Ile)
c.1640G>T (p.Ser547Ile)
c.1548G>T (n.1548G>T)
n.2074G>T
c.1898G>T (p.Ser633Ile)
4g.6301685C>ACA356177043WFS1c.1926C>A (p.Ser642Arg)
c.1867C>A
c.1890C>A (p.Ser630Arg)
c.1641C>A (p.Ser547Arg)
c.1549C>A (n.1549C>A)
n.2075C>A
c.1899C>A (p.Ser633Arg)
4g.6301685C>GCA356177044WFS1c.1926C>G (p.Ser642Arg)
c.1867C>G
c.1890C>G (p.Ser630Arg)
c.1641C>G (p.Ser547Arg)
c.1549C>G (n.1549C>G)
n.2075C>G
c.1899C>G (p.Ser633Arg)
4g.6301685C>TCA438368579WFS1c.1926C>T (p.Ser642=)
c.1867C>T
c.1890C>T (p.Ser630=)
c.1641C>T (p.Ser547=)
c.1549C>T (n.1549C>T)
n.2075C>T
c.1899C>T (p.Ser633=)
gnomAD v4
4g.6301686T>ACA356177047WFS1c.1927T>A (p.Ser643Thr)
c.1868T>A
c.1891T>A (p.Ser631Thr)
c.1642T>A (p.Ser548Thr)
c.1550T>A (n.1550T>A)
n.2076T>A
c.1900T>A (p.Ser634Thr)
4g.6301686T>CCA356177045WFS1c.1927T>C (p.Ser643Pro)
c.1868T>C
c.1891T>C (p.Ser631Pro)
c.1642T>C (p.Ser548Pro)
c.1550T>C (n.1550T>C)
n.2076T>C
c.1900T>C (p.Ser634Pro)
4g.6301686T>GCA356177046WFS1c.1927T>G (p.Ser643Ala)
c.1868T>G
c.1891T>G (p.Ser631Ala)
c.1642T>G (p.Ser548Ala)
c.1550T>G (n.1550T>G)
n.2076T>G
c.1900T>G (p.Ser634Ala)
4g.6301687C>ACA356177048WFS1c.1928C>A (p.Ser643Tyr)
c.1869C>A
c.1892C>A (p.Ser631Tyr)
c.1643C>A (p.Ser548Tyr)
c.1551C>A (n.1551C>A)
n.2077C>A
c.1901C>A (p.Ser634Tyr)
4g.6301687C>GCA356177049WFS1c.1928C>G (p.Ser643Cys)
c.1869C>G
c.1892C>G (p.Ser631Cys)
c.1643C>G (p.Ser548Cys)
c.1551C>G (n.1551C>G)
n.2077C>G
c.1901C>G (p.Ser634Cys)
ClinVar gnomAD v4
4g.6301687C>TCA356177050WFS1c.1928C>T (p.Ser643Phe)
c.1869C>T
c.1892C>T (p.Ser631Phe)
c.1643C>T (p.Ser548Phe)
c.1551C>T (n.1551C>T)
n.2077C>T
c.1901C>T (p.Ser634Phe)
4g.6301688C>ACA438368634WFS1c.1929C>A (p.Ser643=)
c.1870C>A
c.1893C>A (p.Ser631=)
c.1644C>A (p.Ser548=)
c.1552C>A (n.1552C>A)
n.2078C>A
c.1902C>A (p.Ser634=)
ClinVar dbSNP
4g.6301688C=CA1435771651WFS1c.1929C= (p.Ser643=)
c.1870C=
c.1893C= (p.Ser631=)
c.1644C= (p.Ser548=)
c.1552C= (n.1552C=)
n.2078C=
c.1902C= (p.Ser634=)
4g.6301688C>GCA438368635WFS1c.1929C>G (p.Ser643=)
c.1870C>G
c.1893C>G (p.Ser631=)
c.1644C>G (p.Ser548=)
c.1552C>G (n.1552C>G)
n.2078C>G
c.1902C>G (p.Ser634=)
4g.6301688C>TCA2839536WFS1c.1929C>T (p.Ser643=)
c.1870C>T
c.1893C>T (p.Ser631=)
c.1644C>T (p.Ser548=)
c.1552C>T (n.1552C>T)
n.2078C>T
c.1902C>T (p.Ser634=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301689A=CA1435771656WFS1c.1930A= (p.Met644=)
c.1871A=
c.1894A= (p.Met632=)
c.1645A= (p.Met549=)
c.1553A= (n.1553A=)
n.2079A=
c.1903A= (p.Met635=)
4g.6301689A>CCA356177051WFS1c.1930A>C (p.Met644Leu)
c.1871A>C
c.1894A>C (p.Met632Leu)
c.1645A>C (p.Met549Leu)
c.1553A>C (n.1553A>C)
n.2079A>C
c.1903A>C (p.Met635Leu)
4g.6301689A>GCA356177052WFS1c.1930A>G (p.Met644Val)
c.1871A>G
c.1894A>G (p.Met632Val)
c.1645A>G (p.Met549Val)
c.1553A>G (n.1553A>G)
n.2079A>G
c.1903A>G (p.Met635Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301689A>TCA356177053WFS1c.1930A>T (p.Met644Leu)
c.1871A>T
c.1894A>T (p.Met632Leu)
c.1645A>T (p.Met549Leu)
c.1553A>T (n.1553A>T)
n.2079A>T
c.1903A>T (p.Met635Leu)
4g.6301690T>ACA356177054WFS1c.1931T>A (p.Met644Lys)
c.1872T>A
c.1895T>A (p.Met632Lys)
c.1646T>A (p.Met549Lys)
c.1554T>A (n.1554T>A)
n.2080T>A
c.1904T>A (p.Met635Lys)
4g.6301690T>CCA356177055WFS1c.1931T>C (p.Met644Thr)
c.1872T>C
c.1895T>C (p.Met632Thr)
c.1646T>C (p.Met549Thr)
c.1554T>C (n.1554T>C)
n.2080T>C
c.1904T>C (p.Met635Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6301690T>GCA356177056WFS1c.1931T>G (p.Met644Arg)
c.1872T>G
c.1895T>G (p.Met632Arg)
c.1646T>G (p.Met549Arg)
c.1554T>G (n.1554T>G)
n.2080T>G
c.1904T>G (p.Met635Arg)
4g.6301690T=CA1435771658WFS1c.1931T= (p.Met644=)
c.1872T=
c.1895T= (p.Met632=)
c.1646T= (p.Met549=)
c.1554T= (n.1554T=)
n.2080T=
c.1904T= (p.Met635=)

Number of alleles fetched