Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6301565_6301567dup | CA1435774021 | WFS1 | c.1806_1808dup (p.Ser603_Leu604insSer) c.1747_1749dup c.1770_1772dup (p.Ser591_Leu592insSer) c.1521_1523dup (p.Ser508_Leu509insSer) c.1429_1431dup (n.1429_1431dup) n.1955_1957dup c.1779_1781dup (p.Ser594_Leu595insSer) | dbSNP |
4 | g.6301566T>A | CA356176813 | WFS1 | c.1807T>A (p.Ser603Thr) c.1748T>A c.1771T>A (p.Ser591Thr) c.1522T>A (p.Ser508Thr) c.1430T>A (n.1430T>A) n.1956T>A c.1780T>A (p.Ser594Thr) | |
4 | g.6301566T>C | CA356176814 | WFS1 | c.1807T>C (p.Ser603Pro) c.1748T>C c.1771T>C (p.Ser591Pro) c.1522T>C (p.Ser508Pro) c.1430T>C (n.1430T>C) n.1956T>C c.1780T>C (p.Ser594Pro) | |
4 | g.6301566T>G | CA356176816 | WFS1 | c.1807T>G (p.Ser603Ala) c.1748T>G c.1771T>G (p.Ser591Ala) c.1522T>G (p.Ser508Ala) c.1430T>G (n.1430T>G) n.1956T>G c.1780T>G (p.Ser594Ala) | |
4 | g.6301566_6301567delinsTC | CA1435774034 | WFS1 | c.1807_1808delinsTC (p.Ser603=) c.1748_1749delinsTC c.1771_1772delinsTC (p.Ser591=) c.1522_1523delinsTC (p.Ser508=) c.1430_1431delinsTC (n.1430_1431delinsTC) n.1956_1957delinsTC c.1780_1781delinsTC (p.Ser594=) | |
4 | g.6301567del | CA1435774035 | WFS1 | c.1808del (p.Ser603PhefsTer?) c.1749del c.1772del (p.Ser591PhefsTer?) c.1523del (p.Ser508PhefsTer?) c.1431del (n.1431del) n.1957del c.1781del (p.Ser594PhefsTer?) | dbSNP |
4 | g.6301567C>A | CA356176817 | WFS1 | c.1808C>A (p.Ser603Tyr) c.1749C>A c.1772C>A (p.Ser591Tyr) c.1523C>A (p.Ser508Tyr) c.1431C>A (n.1431C>A) n.1957C>A c.1781C>A (p.Ser594Tyr) | |
4 | g.6301567C= | CA1435774037 | WFS1 | c.1808C= (p.Ser603=) c.1749C= c.1772C= (p.Ser591=) c.1523C= (p.Ser508=) c.1431C= (n.1431C=) n.1957C= c.1781C= (p.Ser594=) | |
4 | g.6301567C>G | CA324730 | WFS1 | c.1808C>G (p.Ser603Cys) c.1749C>G c.1772C>G (p.Ser591Cys) c.1523C>G (p.Ser508Cys) c.1431C>G (n.1431C>G) n.1957C>G c.1781C>G (p.Ser594Cys) | dbSNP gnomAD v4 |
4 | g.6301567C>T | CA2839485 | WFS1 | c.1808C>T (p.Ser603Phe) c.1749C>T c.1772C>T (p.Ser591Phe) c.1523C>T (p.Ser508Phe) c.1431C>T (n.1431C>T) n.1957C>T c.1781C>T (p.Ser594Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301568T>A | CA438368362 | WFS1 | c.1809T>A (p.Ser603=) c.1750T>A c.1773T>A (p.Ser591=) c.1524T>A (p.Ser508=) c.1432T>A (n.1432T>A) n.1958T>A c.1782T>A (p.Ser594=) | |
4 | g.6301568T>C | CA438368363 | WFS1 | c.1809T>C (p.Ser603=) c.1750T>C c.1773T>C (p.Ser591=) c.1524T>C (p.Ser508=) c.1432T>C (n.1432T>C) n.1958T>C c.1782T>C (p.Ser594=) | gnomAD v4 |
4 | g.6301568T>G | CA438368364 | WFS1 | c.1809T>G (p.Ser603=) c.1750T>G c.1773T>G (p.Ser591=) c.1524T>G (p.Ser508=) c.1432T>G (n.1432T>G) n.1958T>G c.1782T>G (p.Ser594=) | |
4 | g.6301569C>A | CA356176821 | WFS1 | c.1810C>A (p.Leu604Met) c.1751C>A c.1774C>A (p.Leu592Met) c.1525C>A (p.Leu509Met) c.1433C>A (n.1433C>A) n.1959C>A c.1783C>A (p.Leu595Met) | |
4 | g.6301569C= | CA1435774040 | WFS1 | c.1810C= (p.Leu604=) c.1751C= c.1774C= (p.Leu592=) c.1525C= (p.Leu509=) c.1433C= (n.1433C=) n.1959C= c.1783C= (p.Leu595=) | |
4 | g.6301569C>G | CA2839486 | WFS1 | c.1810C>G (p.Leu604Val) c.1751C>G c.1774C>G (p.Leu592Val) c.1525C>G (p.Leu509Val) c.1433C>G (n.1433C>G) n.1959C>G c.1783C>G (p.Leu595Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301569C>T | CA438368365 | WFS1 | c.1810C>T (p.Leu604=) c.1751C>T c.1774C>T (p.Leu592=) c.1525C>T (p.Leu509=) c.1433C>T (n.1433C>T) n.1959C>T c.1783C>T (p.Leu595=) | |
4 | g.6301570T>A | CA356176822 | WFS1 | c.1811T>A (p.Leu604Gln) c.1752T>A c.1775T>A (p.Leu592Gln) c.1526T>A (p.Leu509Gln) c.1434T>A (n.1434T>A) n.1960T>A c.1784T>A (p.Leu595Gln) | dbSNP |
4 | g.6301570T>C | CA356176823 | WFS1 | c.1811T>C (p.Leu604Pro) c.1752T>C c.1775T>C (p.Leu592Pro) c.1526T>C (p.Leu509Pro) c.1434T>C (n.1434T>C) n.1960T>C c.1784T>C (p.Leu595Pro) | gnomAD v4 |
4 | g.6301570T>G | CA356176824 | WFS1 | c.1811T>G (p.Leu604Arg) c.1752T>G c.1775T>G (p.Leu592Arg) c.1526T>G (p.Leu509Arg) c.1434T>G (n.1434T>G) n.1960T>G c.1784T>G (p.Leu595Arg) | |
4 | g.6301570T= | CA1435774042 | WFS1 | c.1811T= (p.Leu604=) c.1752T= c.1775T= (p.Leu592=) c.1526T= (p.Leu509=) c.1434T= (n.1434T=) n.1960T= c.1784T= (p.Leu595=) | |
4 | g.6301570_6301571del | CA658820914 | WFS1 | c.1811_1812del (p.Leu604ArgfsTer13) c.1752_1753del c.1775_1776del (p.Leu592ArgfsTer13) c.1526_1527del (p.Leu509ArgfsTer13) c.1434_1435del (n.1434_1435del) n.1960_1961del c.1784_1785del (p.Leu595ArgfsTer13) | |
4 | g.6301570_6301573dup | CA2586973635 | WFS1 | c.1811_1814dup (p.Glu605AspfsTer14) c.1752_1755dup c.1775_1778dup (p.Glu593AspfsTer14) c.1526_1529dup (p.Glu510AspfsTer14) c.1434_1437dup (n.1434_1437dup) n.1960_1963dup c.1784_1787dup (p.Glu596AspfsTer14) | |
4 | g.6301571G>A | CA438368366 | WFS1 | c.1812G>A (p.Leu604=) c.1753G>A c.1776G>A (p.Leu592=) c.1527G>A (p.Leu509=) c.1435G>A (n.1435G>A) n.1961G>A c.1785G>A (p.Leu595=) | gnomAD v4 |
4 | g.6301571G>C | CA438368367 | WFS1 | c.1812G>C (p.Leu604=) c.1753G>C c.1776G>C (p.Leu592=) c.1527G>C (p.Leu509=) c.1435G>C (n.1435G>C) n.1961G>C c.1785G>C (p.Leu595=) | |
4 | g.6301571G>T | CA438368368 | WFS1 | c.1812G>T (p.Leu604=) c.1753G>T c.1776G>T (p.Leu592=) c.1527G>T (p.Leu509=) c.1435G>T (n.1435G>T) n.1961G>T c.1785G>T (p.Leu595=) | |
4 | g.6301572G>A | CA91796550 | WFS1 | c.1813G>A (p.Glu605Lys) c.1754G>A c.1777G>A (p.Glu593Lys) c.1528G>A (p.Glu510Lys) c.1436G>A (n.1436G>A) n.1962G>A c.1786G>A (p.Glu596Lys) | dbSNP gnomAD v4 |
4 | g.6301572G>C | CA2839487 | WFS1 | c.1813G>C (p.Glu605Gln) c.1754G>C c.1777G>C (p.Glu593Gln) c.1528G>C (p.Glu510Gln) c.1436G>C (n.1436G>C) n.1962G>C c.1786G>C (p.Glu596Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301572G= | CA1435774045 | WFS1 | c.1813G= (p.Glu605=) c.1754G= c.1777G= (p.Glu593=) c.1528G= (p.Glu510=) c.1436G= (n.1436G=) n.1962G= c.1786G= (p.Glu596=) | |
4 | g.6301572G>T | CA356176826 | WFS1 | c.1813G>T (p.Glu605Ter) c.1754G>T c.1777G>T (p.Glu593Ter) c.1528G>T (p.Glu510Ter) c.1436G>T (n.1436G>T) n.1962G>T c.1786G>T (p.Glu596Ter) | |
4 | g.6301573A= | CA1435774049 | WFS1 | c.1814A= (p.Glu605=) c.1755A= c.1778A= (p.Glu593=) c.1529A= (p.Glu510=) c.1437A= (n.1437A=) n.1963A= c.1787A= (p.Glu596=) | |
4 | g.6301573A>C | CA356176827 | WFS1 | c.1814A>C (p.Glu605Ala) c.1755A>C c.1778A>C (p.Glu593Ala) c.1529A>C (p.Glu510Ala) c.1437A>C (n.1437A>C) n.1963A>C c.1787A>C (p.Glu596Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301573A>G | CA2839488 | WFS1 | c.1814A>G (p.Glu605Gly) c.1755A>G c.1778A>G (p.Glu593Gly) c.1529A>G (p.Glu510Gly) c.1437A>G (n.1437A>G) n.1963A>G c.1787A>G (p.Glu596Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301573A>T | CA356176828 | WFS1 | c.1814A>T (p.Glu605Val) c.1755A>T c.1778A>T (p.Glu593Val) c.1529A>T (p.Glu510Val) c.1437A>T (n.1437A>T) n.1963A>T c.1787A>T (p.Glu596Val) | |
4 | g.6301574G>A | CA438368369 | WFS1 | c.1815G>A (p.Glu605=) c.1756G>A c.1779G>A (p.Glu593=) c.1530G>A (p.Glu510=) c.1438G>A (n.1438G>A) n.1964G>A c.1788G>A (p.Glu596=) | gnomAD v4 |
4 | g.6301574G>C | CA320964 | WFS1 | c.1815G>C (p.Glu605Asp) c.1756G>C c.1779G>C (p.Glu593Asp) c.1530G>C (p.Glu510Asp) c.1438G>C (n.1438G>C) n.1964G>C c.1788G>C (p.Glu596Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301574G= | CA1435774056 | WFS1 | c.1815G= (p.Glu605=) c.1756G= c.1779G= (p.Glu593=) c.1530G= (p.Glu510=) c.1438G= (n.1438G=) n.1964G= c.1788G= (p.Glu596=) | |
4 | g.6301574G>T | CA356176830 | WFS1 | c.1815G>T (p.Glu605Asp) c.1756G>T c.1779G>T (p.Glu593Asp) c.1530G>T (p.Glu510Asp) c.1438G>T (n.1438G>T) n.1964G>T c.1788G>T (p.Glu596Asp) | |
4 | g.6301575C>A | CA356176831 | WFS1 | c.1816C>A (p.Leu606Ile) c.1757C>A c.1780C>A (p.Leu594Ile) c.1531C>A (p.Leu511Ile) c.1439C>A (n.1439C>A) n.1965C>A c.1789C>A (p.Leu597Ile) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301575C= | CA1435774061 | WFS1 | c.1816C= (p.Leu606=) c.1757C= c.1780C= (p.Leu594=) c.1531C= (p.Leu511=) c.1439C= (n.1439C=) n.1965C= c.1789C= (p.Leu597=) | |
4 | g.6301575C>G | CA356176832 | WFS1 | c.1816C>G (p.Leu606Val) c.1757C>G c.1780C>G (p.Leu594Val) c.1531C>G (p.Leu511Val) c.1439C>G (n.1439C>G) n.1965C>G c.1789C>G (p.Leu597Val) | |
4 | g.6301575C>T | CA356176834 | WFS1 | c.1816C>T (p.Leu606Phe) c.1757C>T c.1780C>T (p.Leu594Phe) c.1531C>T (p.Leu511Phe) c.1439C>T (n.1439C>T) n.1965C>T c.1789C>T (p.Leu597Phe) | ClinVar dbSNP |
4 | g.6301576T>A | CA356176836 | WFS1 | c.1817T>A (p.Leu606His) c.1758T>A c.1781T>A (p.Leu594His) c.1532T>A (p.Leu511His) c.1440T>A (n.1440T>A) n.1966T>A c.1790T>A (p.Leu597His) | |
4 | g.6301576T>C | CA356176838 | WFS1 | c.1817T>C (p.Leu606Pro) c.1758T>C c.1781T>C (p.Leu594Pro) c.1532T>C (p.Leu511Pro) c.1440T>C (n.1440T>C) n.1966T>C c.1790T>C (p.Leu597Pro) | |
4 | g.6301576T>G | CA91796559 | WFS1 | c.1817T>G (p.Leu606Arg) c.1758T>G c.1781T>G (p.Leu594Arg) c.1532T>G (p.Leu511Arg) c.1440T>G (n.1440T>G) n.1966T>G c.1790T>G (p.Leu597Arg) | dbSNP |
4 | g.6301576T= | CA1435774063 | WFS1 | c.1817T= (p.Leu606=) c.1758T= c.1781T= (p.Leu594=) c.1532T= (p.Leu511=) c.1440T= (n.1440T=) n.1966T= c.1790T= (p.Leu597=) | |
4 | g.6301577C>A | CA438368370 | WFS1 | c.1818C>A (p.Leu606=) c.1759C>A c.1782C>A (p.Leu594=) c.1533C>A (p.Leu511=) c.1441C>A (n.1441C>A) n.1967C>A c.1791C>A (p.Leu597=) | |
4 | g.6301577C>G | CA438368371 | WFS1 | c.1818C>G (p.Leu606=) c.1759C>G c.1782C>G (p.Leu594=) c.1533C>G (p.Leu511=) c.1441C>G (n.1441C>G) n.1967C>G c.1791C>G (p.Leu597=) | gnomAD v4 |
4 | g.6301577C>T | CA438368372 | WFS1 | c.1818C>T (p.Leu606=) c.1759C>T c.1782C>T (p.Leu594=) c.1533C>T (p.Leu511=) c.1441C>T (n.1441C>T) n.1967C>T c.1791C>T (p.Leu597=) | |
4 | g.6301578A>C | CA356176841 | WFS1 | c.1819A>C (p.Thr607Pro) c.1760A>C c.1783A>C (p.Thr595Pro) c.1534A>C (p.Thr512Pro) c.1442A>C (n.1442A>C) n.1968A>C c.1792A>C (p.Thr598Pro) | gnomAD v4 |
4 | g.6301578A>G | CA356176842 | WFS1 | c.1819A>G (p.Thr607Ala) c.1760A>G c.1783A>G (p.Thr595Ala) c.1534A>G (p.Thr512Ala) c.1442A>G (n.1442A>G) n.1968A>G c.1792A>G (p.Thr598Ala) | |
4 | g.6301578A>T | CA356176844 | WFS1 | c.1819A>T (p.Thr607Ser) c.1760A>T c.1783A>T (p.Thr595Ser) c.1534A>T (p.Thr512Ser) c.1442A>T (n.1442A>T) n.1968A>T c.1792A>T (p.Thr598Ser) | gnomAD v4 |
4 | g.6301579C>A | CA356176845 | WFS1 | c.1820C>A (p.Thr607Asn) c.1761C>A c.1784C>A (p.Thr595Asn) c.1535C>A (p.Thr512Asn) c.1443C>A (n.1443C>A) n.1969C>A c.1793C>A (p.Thr598Asn) | |
4 | g.6301579C= | CA1435774066 | WFS1 | c.1820C= (p.Thr607=) c.1761C= c.1784C= (p.Thr595=) c.1535C= (p.Thr512=) c.1443C= (n.1443C=) n.1969C= c.1793C= (p.Thr598=) | |
4 | g.6301579C>G | CA2839489 | WFS1 | c.1820C>G (p.Thr607Ser) c.1761C>G c.1784C>G (p.Thr595Ser) c.1535C>G (p.Thr512Ser) c.1443C>G (n.1443C>G) n.1969C>G c.1793C>G (p.Thr598Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301579C>T | CA91796563 | WFS1 | c.1820C>T (p.Thr607Ile) c.1761C>T c.1784C>T (p.Thr595Ile) c.1535C>T (p.Thr512Ile) c.1443C>T (n.1443C>T) n.1969C>T c.1793C>T (p.Thr598Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301580C>A | CA438368376 | WFS1 | c.1821C>A (p.Thr607=) c.1762C>A c.1785C>A (p.Thr595=) c.1536C>A (p.Thr512=) c.1444C>A (n.1444C>A) n.1970C>A c.1794C>A (p.Thr598=) | |
4 | g.6301580C= | CA1435774070 | WFS1 | c.1821C= (p.Thr607=) c.1762C= c.1785C= (p.Thr595=) c.1536C= (p.Thr512=) c.1444C= (n.1444C=) n.1970C= c.1794C= (p.Thr598=) | |
4 | g.6301580C>G | CA438368377 | WFS1 | c.1821C>G (p.Thr607=) c.1762C>G c.1785C>G (p.Thr595=) c.1536C>G (p.Thr512=) c.1444C>G (n.1444C>G) n.1970C>G c.1794C>G (p.Thr598=) | gnomAD v4 |
4 | g.6301580C>T | CA2839490 | WFS1 | c.1821C>T (p.Thr607=) c.1762C>T c.1785C>T (p.Thr595=) c.1536C>T (p.Thr512=) c.1444C>T (n.1444C>T) n.1970C>T c.1794C>T (p.Thr598=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301581A= | CA1435774076 | WFS1 | c.1822A= (p.Lys608=) c.1763A= c.1786A= (p.Lys596=) c.1537A= (p.Lys513=) c.1445A= (n.1445A=) n.1971A= c.1795A= (p.Lys599=) | |
4 | g.6301581A>C | CA2839491 | WFS1 | c.1822A>C (p.Lys608Gln) c.1763A>C c.1786A>C (p.Lys596Gln) c.1537A>C (p.Lys513Gln) c.1445A>C (n.1445A>C) n.1971A>C c.1795A>C (p.Lys599Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301581A>G | CA356176846 | WFS1 | c.1822A>G (p.Lys608Glu) c.1763A>G c.1786A>G (p.Lys596Glu) c.1537A>G (p.Lys513Glu) c.1445A>G (n.1445A>G) n.1971A>G c.1795A>G (p.Lys599Glu) | |
4 | g.6301581A>T | CA356176847 | WFS1 | c.1822A>T (p.Lys608Ter) c.1763A>T c.1786A>T (p.Lys596Ter) c.1537A>T (p.Lys513Ter) c.1445A>T (n.1445A>T) n.1971A>T c.1795A>T (p.Lys599Ter) | |
4 | g.6301582A>C | CA356176848 | WFS1 | c.1823A>C (p.Lys608Thr) c.1764A>C c.1787A>C (p.Lys596Thr) c.1538A>C (p.Lys513Thr) c.1446A>C (n.1446A>C) n.1972A>C c.1796A>C (p.Lys599Thr) | |
4 | g.6301582A>G | CA356176849 | WFS1 | c.1823A>G (p.Lys608Arg) c.1764A>G c.1787A>G (p.Lys596Arg) c.1538A>G (p.Lys513Arg) c.1446A>G (n.1446A>G) n.1972A>G c.1796A>G (p.Lys599Arg) | ClinVar gnomAD v4 |
4 | g.6301582A>T | CA356176850 | WFS1 | c.1823A>T (p.Lys608Met) c.1764A>T c.1787A>T (p.Lys596Met) c.1538A>T (p.Lys513Met) c.1446A>T (n.1446A>T) n.1972A>T c.1796A>T (p.Lys599Met) | ClinVar dbSNP |
4 | g.6301583G>A | CA438368381 | WFS1 | c.1824G>A (p.Lys608=) c.1765G>A c.1788G>A (p.Lys596=) c.1539G>A (p.Lys513=) c.1447G>A (n.1447G>A) n.1973G>A c.1797G>A (p.Lys599=) | COSMIC |
4 | g.6301583G>C | CA91796569 | WFS1 | c.1824G>C (p.Lys608Asn) c.1765G>C c.1788G>C (p.Lys596Asn) c.1539G>C (p.Lys513Asn) c.1447G>C (n.1447G>C) n.1973G>C c.1797G>C (p.Lys599Asn) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301583G= | CA1435774081 | WFS1 | c.1824G= (p.Lys608=) c.1765G= c.1788G= (p.Lys596=) c.1539G= (p.Lys513=) c.1447G= (n.1447G=) n.1973G= c.1797G= (p.Lys599=) | |
4 | g.6301583G>T | CA356176851 | WFS1 | c.1824G>T (p.Lys608Asn) c.1765G>T c.1788G>T (p.Lys596Asn) c.1539G>T (p.Lys513Asn) c.1447G>T (n.1447G>T) n.1973G>T c.1797G>T (p.Lys599Asn) | |
4 | g.6301584A= | CA1435774084 | WFS1 | c.1825A= (p.Ile609=) c.1766A= c.1789A= (p.Ile597=) c.1540A= (p.Ile514=) c.1448A= (n.1448A=) n.1974A= c.1798A= (p.Ile600=) | |
4 | g.6301584A>C | CA356176852 | WFS1 | c.1825A>C (p.Ile609Leu) c.1766A>C c.1789A>C (p.Ile597Leu) c.1540A>C (p.Ile514Leu) c.1448A>C (n.1448A>C) n.1974A>C c.1798A>C (p.Ile600Leu) | ClinVar dbSNP gnomAD v4 |
4 | g.6301584A>G | CA91796572 | WFS1 | c.1825A>G (p.Ile609Val) c.1766A>G c.1789A>G (p.Ile597Val) c.1540A>G (p.Ile514Val) c.1448A>G (n.1448A>G) n.1974A>G c.1798A>G (p.Ile600Val) | dbSNP |
4 | g.6301584A>T | CA356176853 | WFS1 | c.1825A>T (p.Ile609Phe) c.1766A>T c.1789A>T (p.Ile597Phe) c.1540A>T (p.Ile514Phe) c.1448A>T (n.1448A>T) n.1974A>T c.1798A>T (p.Ile600Phe) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301585T>A | CA356176856 | WFS1 | c.1826T>A (p.Ile609Asn) c.1767T>A c.1790T>A (p.Ile597Asn) c.1541T>A (p.Ile514Asn) c.1449T>A (n.1449T>A) n.1975T>A c.1799T>A (p.Ile600Asn) | gnomAD v4 |
4 | g.6301585T>C | CA356176854 | WFS1 | c.1826T>C (p.Ile609Thr) c.1767T>C c.1790T>C (p.Ile597Thr) c.1541T>C (p.Ile514Thr) c.1449T>C (n.1449T>C) n.1975T>C c.1799T>C (p.Ile600Thr) | |
4 | g.6301585T>G | CA356176855 | WFS1 | c.1826T>G (p.Ile609Ser) c.1767T>G c.1790T>G (p.Ile597Ser) c.1541T>G (p.Ile514Ser) c.1449T>G (n.1449T>G) n.1975T>G c.1799T>G (p.Ile600Ser) | dbSNP gnomAD v2 |
4 | g.6301585T= | CA1435774089 | WFS1 | c.1826T= (p.Ile609=) c.1767T= c.1790T= (p.Ile597=) c.1541T= (p.Ile514=) c.1449T= (n.1449T=) n.1975T= c.1799T= (p.Ile600=) | |
4 | g.6301586C>A | CA438368384 | WFS1 | c.1827C>A (p.Ile609=) c.1768C>A c.1791C>A (p.Ile597=) c.1542C>A (p.Ile514=) c.1450C>A (n.1450C>A) n.1976C>A c.1800C>A (p.Ile600=) | |
4 | g.6301586C= | CA1435774095 | WFS1 | c.1827C= (p.Ile609=) c.1768C= c.1791C= (p.Ile597=) c.1542C= (p.Ile514=) c.1450C= (n.1450C=) n.1976C= c.1800C= (p.Ile600=) | |
4 | g.6301586C>G | CA2839493 | WFS1 | c.1827C>G (p.Ile609Met) c.1768C>G c.1791C>G (p.Ile597Met) c.1542C>G (p.Ile514Met) c.1450C>G (n.1450C>G) n.1976C>G c.1800C>G (p.Ile600Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301586C>T | CA2839492 | WFS1 | c.1827C>T (p.Ile609=) c.1768C>T c.1791C>T (p.Ile597=) c.1542C>T (p.Ile514=) c.1450C>T (n.1450C>T) n.1976C>T c.1800C>T (p.Ile600=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301587G>A | CA182628 | WFS1 | c.1828G>A (p.Ala610Thr) c.1769G>A c.1792G>A (p.Ala598Thr) c.1543G>A (p.Ala515Thr) c.1451G>A (n.1451G>A) n.1977G>A c.1801G>A (p.Ala601Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301587G>C | CA356176857 | WFS1 | c.1828G>C (p.Ala610Pro) c.1769G>C c.1792G>C (p.Ala598Pro) c.1543G>C (p.Ala515Pro) c.1451G>C (n.1451G>C) n.1977G>C c.1801G>C (p.Ala601Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301587G= | CA1435774103 | WFS1 | c.1828G= (p.Ala610=) c.1769G= c.1792G= (p.Ala598=) c.1543G= (p.Ala515=) c.1451G= (n.1451G=) n.1977G= c.1801G= (p.Ala601=) | |
4 | g.6301587G>T | CA356176858 | WFS1 | c.1828G>T (p.Ala610Ser) c.1769G>T c.1792G>T (p.Ala598Ser) c.1543G>T (p.Ala515Ser) c.1451G>T (n.1451G>T) n.1977G>T c.1801G>T (p.Ala601Ser) | |
4 | g.6301588C>A | CA356176859 | WFS1 | c.1829C>A (p.Ala610Glu) c.1770C>A c.1793C>A (p.Ala598Glu) c.1544C>A (p.Ala515Glu) c.1452C>A (n.1452C>A) n.1978C>A c.1802C>A (p.Ala601Glu) | dbSNP |
4 | g.6301588C= | CA1435774111 | WFS1 | c.1829C= (p.Ala610=) c.1770C= c.1793C= (p.Ala598=) c.1544C= (p.Ala515=) c.1452C= (n.1452C=) n.1978C= c.1802C= (p.Ala601=) | |
4 | g.6301588C>G | CA2839494 | WFS1 | c.1829C>G (p.Ala610Gly) c.1770C>G c.1793C>G (p.Ala598Gly) c.1544C>G (p.Ala515Gly) c.1452C>G (n.1452C>G) n.1978C>G c.1802C>G (p.Ala601Gly) | dbSNP ExAC gnomAD v2 |
4 | g.6301588C>T | CA2839495 | WFS1 | c.1829C>T (p.Ala610Val) c.1770C>T c.1793C>T (p.Ala598Val) c.1544C>T (p.Ala515Val) c.1452C>T (n.1452C>T) n.1978C>T c.1802C>T (p.Ala601Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301589A>C | CA438368390 | WFS1 | c.1830A>C (p.Ala610=) c.1771A>C c.1794A>C (p.Ala598=) c.1545A>C (p.Ala515=) c.1453A>C (n.1453A>C) n.1979A>C c.1803A>C (p.Ala601=) | |
4 | g.6301589A>G | CA438368391 | WFS1 | c.1830A>G (p.Ala610=) c.1771A>G c.1794A>G (p.Ala598=) c.1545A>G (p.Ala515=) c.1453A>G (n.1453A>G) n.1979A>G c.1803A>G (p.Ala601=) | |
4 | g.6301589A>T | CA438368392 | WFS1 | c.1830A>T (p.Ala610=) c.1771A>T c.1794A>T (p.Ala598=) c.1545A>T (p.Ala515=) c.1453A>T (n.1453A>T) n.1979A>T c.1803A>T (p.Ala601=) | |
4 | g.6301590G>A | CA356176860 | WFS1 | c.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) | |
4 | g.6301590G>C | CA356176861 | WFS1 | c.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 |
4 | g.6301590G>T | CA356176862 | WFS1 | c.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 |
4 | g.6301591T>A | CA356176864 | WFS1 | c.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) | |
4 | g.6301591T>C | CA356176863 | WFS1 | c.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) | |
4 | g.6301591T>G | CA2839496 | WFS1 | c.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 |
4 | g.6301591T= | CA1435774115 | WFS1 | c.1832T= (p.Val611=) c.1773T= c.1796T= (p.Val599=) c.1547T= (p.Val516=) c.1455T= (n.1455T=) n.1981T= c.1805T= (p.Val602=) | |
4 | g.6301592C>A | CA295797 | WFS1 | c.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 |
4 | g.6301592C= | CA1435774120 | WFS1 | c.1833C= (p.Val611=) c.1774C= c.1797C= (p.Val599=) c.1548C= (p.Val516=) c.1456C= (n.1456C=) n.1982C= c.1806C= (p.Val602=) | |
4 | g.6301592C>G | CA438368394 | WFS1 | c.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=) | |
4 | g.6301592C>T | CA2839497 | WFS1 | c.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 |
4 | g.6301593A= | CA1435774127 | WFS1 | c.1834A= (p.Thr612=) c.1775A= c.1798A= (p.Thr600=) c.1549A= (p.Thr517=) c.1457A= (n.1457A=) n.1983A= c.1807A= (p.Thr603=) | |
4 | g.6301593A>C | CA356176865 | WFS1 | c.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) | |
4 | g.6301593A>G | CA356176866 | WFS1 | c.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 |
4 | g.6301593A>T | CA356176867 | WFS1 | c.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) | |
4 | g.6301594C>A | CA356176868 | WFS1 | c.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) | |
4 | g.6301594C= | CA1435774132 | WFS1 | c.1835C= (p.Thr612=) c.1776C= c.1799C= (p.Thr600=) c.1550C= (p.Thr517=) c.1458C= (n.1458C=) n.1984C= c.1808C= (p.Thr603=) | |
4 | g.6301594C>G | CA356176869 | WFS1 | c.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 |
4 | g.6301594C>T | CA10621439 | WFS1 | c.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 |
4 | g.6301595C>A | CA2839498 | WFS1 | c.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 |
4 | g.6301595C= | CA1435774144 | WFS1 | c.1836C= (p.Thr612=) c.1777C= c.1800C= (p.Thr600=) c.1551C= (p.Thr517=) c.1459C= (n.1459C=) n.1985C= c.1809C= (p.Thr603=) | |
4 | g.6301595C>G | CA91796588 | WFS1 | c.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 |
4 | g.6301595C>T | CA295576 | WFS1 | c.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 |
4 | g.6301596G>A | CA323280 | WFS1 | c.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 |
4 | g.6301596G>C | CA356176870 | WFS1 | c.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) | |
4 | g.6301596G= | CA1435774153 | WFS1 | c.1837G= (p.Val613=) c.1778G= c.1801G= (p.Val601=) c.1552G= (p.Val518=) c.1460G= (n.1460G=) n.1986G= c.1810G= (p.Val604=) | |
4 | g.6301596G>T | CA2839499 | WFS1 | c.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 |
4 | g.6301597T>A | CA356176873 | WFS1 | c.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) | |
4 | g.6301597T>C | CA356176872 | WFS1 | c.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) | |
4 | g.6301597T>G | CA356176871 | WFS1 | c.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) | |
4 | g.6301598G>A | CA438368403 | WFS1 | c.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 |
4 | g.6301598G>C | CA438368404 | WFS1 | c.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 |
4 | g.6301598G>T | CA438368406 | WFS1 | c.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=) | |
4 | g.6301598_6301599dup | CA2578035838 | WFS1 | c.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 |
4 | g.6301599G>A | CA356176874 | WFS1 | c.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 |
4 | g.6301599G>C | CA356176875 | WFS1 | c.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) | |
4 | g.6301599G>T | CA356176876 | WFS1 | c.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) | |
4 | g.6301600C>A | CA356176877 | WFS1 | c.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 |
4 | g.6301600C= | CA1435774166 | WFS1 | c.1841C= (p.Ala614=) c.1782C= c.1805C= (p.Ala602=) c.1556C= (p.Ala519=) c.1464C= (n.1464C=) n.1990C= c.1814C= (p.Ala605=) | |
4 | g.6301600C>G | CA356176878 | WFS1 | c.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) | |
4 | g.6301600C>T | CA282578 | WFS1 | c.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 |
4 | g.6301601G>A | CA2839500 | WFS1 | c.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 |
4 | g.6301601G>C | CA2839502 | WFS1 | c.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 |
4 | g.6301601G= | CA1435774174 | WFS1 | c.1842G= (p.Ala614=) c.1783G= c.1806G= (p.Ala602=) c.1557G= (p.Ala519=) c.1465G= (n.1465G=) n.1991G= c.1815G= (p.Ala605=) | |
4 | g.6301601G>T | CA2839501 | WFS1 | c.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 |
4 | g.6301602G>A | CA91796601 | WFS1 | c.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 |
4 | g.6301602G>C | CA356176879 | WFS1 | c.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) | |
4 | g.6301602G= | CA1435774182 | WFS1 | c.1843G= (p.Val615=) c.1784G= c.1807G= (p.Val603=) c.1558G= (p.Val520=) c.1466G= (n.1466G=) n.1992G= c.1816G= (p.Val606=) | |
4 | g.6301602G>T | CA356176880 | WFS1 | c.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) | |
4 | g.6301603T>A | CA356176882 | WFS1 | c.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) | |
4 | g.6301603T>C | CA356176883 | WFS1 | c.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) | |
4 | g.6301603T>G | CA356176881 | WFS1 | c.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 |
4 | g.6301603T= | CA1435774187 | WFS1 | c.1844T= (p.Val615=) c.1785T= c.1808T= (p.Val603=) c.1559T= (p.Val520=) c.1467T= (n.1467T=) n.1993T= c.1817T= (p.Val606=) | |
4 | g.6301604C>A | CA438368412 | WFS1 | c.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=) | |
4 | g.6301604C= | CA1435774189 | WFS1 | c.1845C= (p.Val615=) c.1786C= c.1809C= (p.Val603=) c.1560C= (p.Val520=) c.1468C= (n.1468C=) n.1994C= c.1818C= (p.Val606=) | |
4 | g.6301604C>G | CA438368413 | WFS1 | c.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 |
4 | g.6301604C>T | CA2839503 | WFS1 | c.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 |
4 | g.6301605T>A | CA356176884 | WFS1 | c.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) | |
4 | g.6301605T>C | CA356176885 | WFS1 | c.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) | |
4 | g.6301605T>G | CA356176886 | WFS1 | c.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) | |
4 | g.6301606G>A | CA356176887 | WFS1 | c.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 |
4 | g.6301606G>C | CA356176888 | WFS1 | c.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) | |
4 | g.6301606G>T | CA356176889 | WFS1 | c.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 |
4 | g.6301607T>A | CA356176890 | WFS1 | c.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) | |
4 | g.6301607T>C | CA438368418 | WFS1 | c.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 |
4 | g.6301607T>G | CA356176891 | WFS1 | c.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) | |
4 | g.6301607T= | CA1435774194 | WFS1 | c.1848T= (p.Cys616=) c.1789T= c.1812T= (p.Cys604=) c.1563T= (p.Cys521=) c.1471T= (n.1471T=) n.1997T= c.1821T= (p.Cys607=) | |
4 | g.6301608A= | CA1435774197 | WFS1 | c.1849A= (p.Ser617=) c.1790A= c.1813A= (p.Ser605=) c.1564A= (p.Ser522=) c.1472A= (n.1472A=) n.1998A= c.1822A= (p.Ser608=) | |
4 | g.6301608A>C | CA356176892 | WFS1 | c.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) | |
4 | g.6301608A>G | CA2839504 | WFS1 | c.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 |
4 | g.6301608A>T | CA356176893 | WFS1 | c.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) | |
4 | g.6301608dup | CA2586973636 | WFS1 | c.1849dup (p.Ser617LysfsTer?) c.1790dup c.1813dup (p.Ser605LysfsTer?) c.1564dup (p.Ser522LysfsTer?) c.1472dup (n.1472dup) n.1998dup c.1822dup (p.Ser608LysfsTer?) | |
4 | g.6301609G>A | CA356176895 | WFS1 | c.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 |
4 | g.6301609G>C | CA356176896 | WFS1 | c.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) | |
4 | g.6301609G= | CA1435774202 | WFS1 | c.1850G= (p.Ser617=) c.1791G= c.1814G= (p.Ser605=) c.1565G= (p.Ser522=) c.1473G= (n.1473G=) n.1999G= c.1823G= (p.Ser608=) | |
4 | g.6301609G>T | CA356176894 | WFS1 | c.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) | |
4 | g.6301610T>A | CA356176897 | WFS1 | c.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) | |
4 | g.6301610T>C | CA438368427 | WFS1 | c.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 |
4 | g.6301610T>G | CA356176898 | WFS1 | c.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 |
4 | g.6301610T= | CA1435774206 | WFS1 | c.1851T= (p.Ser617=) c.1792T= c.1815T= (p.Ser605=) c.1566T= (p.Ser522=) c.1474T= (n.1474T=) n.2000T= c.1824T= (p.Ser608=) | |
4 | g.6301611G>A | CA2839505 | WFS1 | c.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 |
4 | g.6301611G>C | CA356176899 | WFS1 | c.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) | |
4 | g.6301611G= | CA1435774211 | WFS1 | c.1852G= (p.Val618=) c.1793G= c.1816G= (p.Val606=) c.1567G= (p.Val523=) c.1475G= (n.1475G=) n.2001G= c.1825G= (p.Val609=) | |
4 | g.6301611G>T | CA356176900 | WFS1 | c.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 |
4 | g.6301612T>A | CA356176902 | WFS1 | c.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) | |
4 | g.6301612T>C | CA356176901 | WFS1 | c.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) | |
4 | g.6301612T>G | CA2839506 | WFS1 | c.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 |
4 | g.6301612T= | CA1435774213 | WFS1 | c.1853T= (p.Val618=) c.1794T= c.1817T= (p.Val606=) c.1568T= (p.Val523=) c.1476T= (n.1476T=) n.2002T= c.1826T= (p.Val609=) | |
4 | g.6301613G>A | CA438368434 | WFS1 | c.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 |
4 | g.6301613G>C | CA438368437 | WFS1 | c.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=) | |
4 | g.6301613G= | CA1435774218 | WFS1 | c.1854G= (p.Val618=) c.1795G= c.1818G= (p.Val606=) c.1569G= (p.Val523=) c.1477G= (n.1477G=) n.2003G= c.1827G= (p.Val609=) | |
4 | g.6301613G>T | CA438368436 | WFS1 | c.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=) | |
4 | g.6301613_6301614delinsGC | CA1435774217 | WFS1 | c.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=) | |
4 | g.6301614C>A | CA91796609 | WFS1 | c.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 |
4 | g.6301614C= | CA1435774225 | WFS1 | c.1855C= (p.Pro619=) c.1796C= c.1819C= (p.Pro607=) c.1570C= (p.Pro524=) c.1478C= (n.1478C=) n.2004C= c.1828C= (p.Pro610=) | |
4 | g.6301614C>G | CA2839507 | WFS1 | c.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 |
4 | g.6301614C>T | CA2839508 | WFS1 | c.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 |
4 | g.6301617del | CA797208695 | WFS1 | c.1858del (p.Leu620CysfsTer17) c.1799del c.1822del (p.Leu608CysfsTer17) c.1573del (p.Leu525CysfsTer17) c.1481del (n.1481del) n.2007del c.1831del (p.Leu611CysfsTer17) | dbSNP |
4 | g.6301615C>A | CA356176903 | WFS1 | c.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 |
4 | g.6301615C= | CA1435774229 | WFS1 | c.1856C= (p.Pro619=) c.1797C= c.1820C= (p.Pro607=) c.1571C= (p.Pro524=) c.1479C= (n.1479C=) n.2005C= c.1829C= (p.Pro610=) | |
4 | g.6301615C>G | CA91796616 | WFS1 | c.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 |
4 | g.6301615C>T | CA136338 | WFS1 | c.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 |
4 | g.6301616C>A | CA438368443 | WFS1 | c.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 |
4 | g.6301616C= | CA1435774236 | WFS1 | c.1857C= (p.Pro619=) c.1798C= c.1821C= (p.Pro607=) c.1572C= (p.Pro524=) c.1480C= (n.1480C=) n.2006C= c.1830C= (p.Pro610=) | |
4 | g.6301616C>G | CA438368445 | WFS1 | c.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=) | |
4 | g.6301616C>T | CA438368446 | WFS1 | c.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 |
4 | g.6301617C>A | CA356176904 | WFS1 | c.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) | |
4 | g.6301617C= | CA1435774242 | WFS1 | c.1858C= (p.Leu620=) c.1799C= c.1822C= (p.Leu608=) c.1573C= (p.Leu525=) c.1481C= (n.1481C=) n.2007C= c.1831C= (p.Leu611=) | |
4 | g.6301617C>G | CA356176905 | WFS1 | c.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) | |
4 | g.6301617C>T | CA2839509 | WFS1 | c.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 |
4 | g.6301618T>A | CA356176908 | WFS1 | c.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) | |
4 | g.6301618T>C | CA356176906 | WFS1 | c.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) | |
4 | g.6301618T>G | CA356176907 | WFS1 | c.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) | |
4 | g.6301619G>A | CA438368448 | WFS1 | c.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 |
4 | g.6301619G>C | CA438368450 | WFS1 | c.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 |
4 | g.6301619G= | CA1435774248 | WFS1 | c.1860G= (p.Leu620=) c.1801G= c.1824G= (p.Leu608=) c.1575G= (p.Leu525=) c.1483G= (n.1483G=) n.2009G= c.1833G= (p.Leu611=) | |
4 | g.6301619G>T | CA438368452 | WFS1 | c.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=) | |
4 | g.6301620C>A | CA356176909 | WFS1 | c.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) | |
4 | g.6301620C= | CA1435774254 | WFS1 | c.1861C= (p.Leu621=) c.1802C= c.1825C= (p.Leu609=) c.1576C= (p.Leu526=) c.1484C= (n.1484C=) n.2010C= c.1834C= (p.Leu612=) | |
4 | g.6301620C>G | CA356176910 | WFS1 | c.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 |
4 | g.6301620C>T | CA2839510 | WFS1 | c.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 |
4 | g.6301621T>A | CA356176911 | WFS1 | c.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 |
4 | g.6301621T>C | CA356176912 | WFS1 | c.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) | |
4 | g.6301621T>G | CA356176913 | WFS1 | c.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) | |
4 | g.6301622G>A | CA438368456 | WFS1 | c.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 |
4 | g.6301622G>C | CA438368457 | WFS1 | c.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 |
4 | g.6301622G= | CA1435774256 | WFS1 | c.1863G= (p.Leu621=) c.1804G= c.1827G= (p.Leu609=) c.1578G= (p.Leu526=) c.1486G= (n.1486G=) n.2012G= c.1836G= (p.Leu612=) | |
4 | g.6301622G>T | CA438368458 | WFS1 | c.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=) | |
4 | g.6301622_6301623delinsGT | CA1435774257 | WFS1 | c.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=) | |
4 | g.6301623T>A | CA356176914 | WFS1 | c.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) | |
4 | g.6301623T>C | CA438368459 | WFS1 | c.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=) | |
4 | g.6301623T>G | CA356176915 | WFS1 | c.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 |
4 | g.6301623T= | CA1435774267 | WFS1 | c.1864T= (p.Leu622=) c.1805T= c.1828T= (p.Leu610=) c.1579T= (p.Leu527=) c.1487T= (n.1487T=) n.2013T= c.1837T= (p.Leu613=) | |
4 | g.6301624del | CA915944125 | WFS1 | c.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 |
4 | g.6301624T>A | CA356176916 | WFS1 | c.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) | |
4 | g.6301624T>C | CA356176917 | WFS1 | c.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 |
4 | g.6301624T>G | CA356176918 | WFS1 | c.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 |
4 | g.6301624T= | CA1435774273 | WFS1 | c.1865T= (p.Leu622=) c.1806T= c.1829T= (p.Leu610=) c.1580T= (p.Leu527=) c.1488T= (n.1488T=) n.2014T= c.1838T= (p.Leu613=) | |
4 | g.6301624_6301640delinsTGCGCTGGTGGACCAAG | CA1435774275 | WFS1 | c.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=) | |
4 | g.6301625G>A | CA438368464 | WFS1 | c.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 |
4 | g.6301625G>C | CA356176919 | WFS1 | c.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) | |
4 | g.6301625G= | CA1435774278 | WFS1 | c.1866G= (p.Leu622=) c.1807G= c.1830G= (p.Leu610=) c.1581G= (p.Leu527=) c.1489G= (n.1489G=) n.2015G= c.1839G= (p.Leu613=) | |
4 | g.6301625G>T | CA356176920 | WFS1 | c.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) | |
4 | g.6301627_6301642del | CA549707909 | WFS1 | c.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 |
4 | g.6301626C>A | CA356176921 | WFS1 | c.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) | |
4 | g.6301626C= | CA1435774284 | WFS1 | c.1867C= (p.Arg623=) c.1808C= c.1831C= (p.Arg611=) c.1582C= (p.Arg528=) c.1490C= (n.1490C=) n.2016C= c.1840C= (p.Arg614=) | |
4 | g.6301626C>G | CA2839512 | WFS1 | c.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 |
4 | g.6301626C>T | CA2839511 | WFS1 | c.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 |
4 | g.6301626_6301627delinsCG | CA1435774290 | WFS1 | c.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=) | |
4 | g.6301626_6301627delinsTA | CA320989 | WFS1 | c.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 |
4 | g.6301627G>A | CA136340 | WFS1 | c.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 |
4 | g.6301627G>C | CA356176922 | WFS1 | c.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 |
4 | g.6301627G= | CA1435774301 | WFS1 | c.1868G= (p.Arg623=) c.1809G= c.1832G= (p.Arg611=) c.1583G= (p.Arg528=) c.1491G= (n.1491G=) n.2017G= c.1841G= (p.Arg614=) | |
4 | g.6301627G>T | CA356176923 | WFS1 | c.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) | |
4 | g.6301627_6301628delinsAT | CA2580071779 | WFS1 | c.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 |
4 | g.6301628C>A | CA438368466 | WFS1 | c.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=) | |
4 | g.6301628C= | CA1435774304 | WFS1 | c.1869C= (p.Arg623=) c.1810C= c.1833C= (p.Arg611=) c.1584C= (p.Arg528=) c.1492C= (n.1492C=) n.2018C= c.1842C= (p.Arg614=) | |
4 | g.6301628C>G | CA438368467 | WFS1 | c.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=) | |
4 | g.6301628C>T | CA2839513 | WFS1 | c.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 |
4 | g.6301628_6301653delinsCTGGTGGACCAAGGCCAGCTTCTCTG | CA1435774306 | WFS1 | c.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=) | |
4 | g.6301629T>A | CA356176924 | WFS1 | c.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) | |
4 | g.6301629T>C | CA356176925 | WFS1 | c.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) | |
4 | g.6301629T>G | CA356176926 | WFS1 | c.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 |
4 | g.6301635_6301659del | CA1058892012 | WFS1 | c.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 |
4 | g.6301630G>A | CA356176927 | WFS1 | c.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 |
4 | g.6301630G>C | CA356176928 | WFS1 | c.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) | |
4 | g.6301630G= | CA1435771530 | WFS1 | c.1871G= (p.Trp624=) c.1812G= c.1835G= (p.Trp612=) c.1586G= (p.Trp529=) c.1494G= (n.1494G=) n.2020G= c.1844G= (p.Trp615=) | |
4 | g.6301630G>T | CA356176929 | WFS1 | c.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 |
4 | g.6301631G>A | CA91796630 | WFS1 | c.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 |
4 | g.6301631G>C | CA2839514 | WFS1 | c.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 |
4 | g.6301631G= | CA1435771532 | WFS1 | c.1872G= (p.Trp624=) c.1813G= c.1836G= (p.Trp612=) c.1587G= (p.Trp529=) c.1495G= (n.1495G=) n.2021G= c.1845G= (p.Trp615=) | |
4 | g.6301631G>T | CA356176930 | WFS1 | c.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 |
4 | g.6301632T>A | CA356176931 | WFS1 | c.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) | |
4 | g.6301632T>C | CA356176932 | WFS1 | c.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 |
4 | g.6301632T>G | CA356176933 | WFS1 | c.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 |
4 | g.6301632T= | CA1435771533 | WFS1 | c.1873T= (p.Trp625=) c.1814T= c.1837T= (p.Trp613=) c.1588T= (p.Trp530=) c.1496T= (n.1496T=) n.2022T= c.1846T= (p.Trp616=) | |
4 | g.6301633G>A | CA2839515 | WFS1 | c.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 |
4 | g.6301633G>C | CA356176934 | WFS1 | c.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 |
4 | g.6301633G= | CA1435771535 | WFS1 | c.1874G= (p.Trp625=) c.1815G= c.1838G= (p.Trp613=) c.1589G= (p.Trp530=) c.1497G= (n.1497G=) n.2023G= c.1847G= (p.Trp616=) | |
4 | g.6301633G>T | CA356176935 | WFS1 | c.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 |
4 | g.6301634G>A | CA2839516 | WFS1 | c.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 |
4 | g.6301634G>C | CA356176936 | WFS1 | c.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) | |
4 | g.6301634G= | CA1435771541 | WFS1 | c.1875G= (p.Trp625=) c.1816G= c.1839G= (p.Trp613=) c.1590G= (p.Trp530=) c.1498G= (n.1498G=) n.2024G= c.1848G= (p.Trp616=) | |
4 | g.6301634G>T | CA356176937 | WFS1 | c.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 |
4 | g.6301635A= | CA1435771544 | WFS1 | c.1876A= (p.Thr626=) c.1817A= c.1840A= (p.Thr614=) c.1591A= (p.Thr531=) c.1499A= (n.1499A=) n.2025A= c.1849A= (p.Thr617=) | |
4 | g.6301635A>C | CA356176938 | WFS1 | c.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 |
4 | g.6301635A>G | CA356176939 | WFS1 | c.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 |
4 | g.6301635A>T | CA356176940 | WFS1 | c.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) | |
4 | g.6301636C>A | CA356176942 | WFS1 | c.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) | |
4 | g.6301636C= | CA1435771546 | WFS1 | c.1877C= (p.Thr626=) c.1818C= c.1841C= (p.Thr614=) c.1592C= (p.Thr531=) c.1500C= (n.1500C=) n.2026C= c.1850C= (p.Thr617=) | |
4 | g.6301636C>G | CA2839517 | WFS1 | c.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 |
4 | g.6301636C>T | CA356176941 | WFS1 | c.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) | |
4 | g.6301637C>A | CA438368477 | WFS1 | c.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=) | |
4 | g.6301637C= | CA1435771548 | WFS1 | c.1878C= (p.Thr626=) c.1819C= c.1842C= (p.Thr614=) c.1593C= (p.Thr531=) c.1501C= (n.1501C=) n.2027C= c.1851C= (p.Thr617=) | |
4 | g.6301637C>G | CA438368479 | WFS1 | c.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 |
4 | g.6301637C>T | CA2839518 | WFS1 | c.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 |
4 | g.6301638A>C | CA356176943 | WFS1 | c.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) | |
4 | g.6301638A>G | CA356176944 | WFS1 | c.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 |
4 | g.6301638A>T | CA356176945 | WFS1 | c.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) | |
4 | g.6301639A>C | CA356176946 | WFS1 | c.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 |
4 | g.6301639A>G | CA356176947 | WFS1 | c.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) | |
4 | g.6301639A>T | CA356176948 | WFS1 | c.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) | |
4 | g.6301640G>A | CA438368489 | WFS1 | c.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 |
4 | g.6301640G>C | CA356176949 | WFS1 | c.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 |
4 | g.6301640G= | CA1435771550 | WFS1 | c.1881G= (p.Lys627=) c.1822G= c.1845G= (p.Lys615=) c.1596G= (p.Lys532=) c.1504G= (n.1504G=) n.2030G= c.1854G= (p.Lys618=) | |
4 | g.6301640G>T | CA356176950 | WFS1 | c.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) | |
4 | g.6301641dup | CA2669843453 | WFS1 | c.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 |
4 | g.6301641G>A | CA356176951 | WFS1 | c.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) | |
4 | g.6301641G>C | CA356176952 | WFS1 | c.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 |
4 | g.6301641G= | CA1435771552 | WFS1 | c.1882G= (p.Ala628=) c.1823G= c.1846G= (p.Ala616=) c.1597G= (p.Ala533=) c.1505G= (n.1505G=) n.2031G= c.1855G= (p.Ala619=) | |
4 | g.6301641G>T | CA2839519 | WFS1 | c.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 |
4 | g.6301642C>A | CA356176954 | WFS1 | c.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 |
4 | g.6301642C= | CA1435771556 | WFS1 | c.1883C= (p.Ala628=) c.1824C= c.1847C= (p.Ala616=) c.1598C= (p.Ala533=) c.1506C= (n.1506C=) n.2032C= c.1856C= (p.Ala619=) | |
4 | g.6301642C>G | CA356176955 | WFS1 | c.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) | |
4 | g.6301642C>T | CA356176953 | WFS1 | c.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 |
4 | g.6301643C>A | CA438368491 | WFS1 | c.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=) | |
4 | g.6301643C= | CA1435771560 | WFS1 | c.1884C= (p.Ala628=) c.1825C= c.1848C= (p.Ala616=) c.1599C= (p.Ala533=) c.1507C= (n.1507C=) n.2033C= c.1857C= (p.Ala619=) | |
4 | g.6301643C>G | CA438368493 | WFS1 | c.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 |
4 | g.6301643C>T | CA2839520 | WFS1 | c.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 |
4 | g.6301644A= | CA1435771563 | WFS1 | c.1885A= (p.Ser629=) c.1826A= c.1849A= (p.Ser617=) c.1600A= (p.Ser534=) c.1508A= (n.1508A=) n.2034A= c.1858A= (p.Ser620=) | |
4 | g.6301644A>C | CA356176956 | WFS1 | c.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 |
4 | g.6301644A>G | CA356176957 | WFS1 | c.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 |
4 | g.6301644A>T | CA356176958 | WFS1 | c.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) | |
4 | g.6301645G>A | CA356176959 | WFS1 | c.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 |
4 | g.6301645G>C | CA356176960 | WFS1 | c.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 |
4 | g.6301645G>T | CA356176961 | WFS1 | c.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) | |
4 | g.6301646C>A | CA356176962 | WFS1 | c.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 |
4 | g.6301646C= | CA1435771571 | WFS1 | c.1887C= (p.Ser629=) c.1828C= c.1851C= (p.Ser617=) c.1602C= (p.Ser534=) c.1510C= (n.1510C=) n.2036C= c.1860C= (p.Ser620=) | |
4 | g.6301646C>G | CA356176963 | WFS1 | c.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) | |
4 | g.6301646C>T | CA438368500 | WFS1 | c.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=) | |
4 | g.6301647T>A | CA356176964 | WFS1 | c.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) | |
4 | g.6301647T>C | CA356176965 | WFS1 | c.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 |
4 | g.6301647T>G | CA356176966 | WFS1 | c.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) | |
4 | g.6301648T>A | CA356176967 | WFS1 | c.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 |
4 | g.6301648T>C | CA356176968 | WFS1 | c.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 |
4 | g.6301648T>G | CA356176969 | WFS1 | c.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 |
4 | g.6301648T= | CA1435771574 | WFS1 | c.1889T= (p.Phe630=) c.1830T= c.1853T= (p.Phe618=) c.1604T= (p.Phe535=) c.1512T= (n.1512T=) n.2038T= c.1862T= (p.Phe621=) | |
4 | g.6301651_6301652del | CA2586973637 | WFS1 | c.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?) | |
4 | g.6301649C>A | CA356176971 | WFS1 | c.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) | |
4 | g.6301649C= | CA1435771577 | WFS1 | c.1890C= (p.Phe630=) c.1831C= c.1854C= (p.Phe618=) c.1605C= (p.Phe535=) c.1513C= (n.1513C=) n.2039C= c.1863C= (p.Phe621=) | |
4 | g.6301649C>G | CA356176970 | WFS1 | c.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) | |
4 | g.6301649C>T | CA438368501 | WFS1 | c.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 |
4 | g.6301650T>A | CA356176972 | WFS1 | c.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) | |
4 | g.6301650T>C | CA356176973 | WFS1 | c.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) | |
4 | g.6301650T>G | CA356176974 | WFS1 | c.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) | |
4 | g.6301651C>A | CA356176975 | WFS1 | c.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) | |
4 | g.6301651C>G | CA356176976 | WFS1 | c.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) | |
4 | g.6301651C>T | CA356176977 | WFS1 | c.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 |
4 | g.6301652T>A | CA438368509 | WFS1 | c.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=) | |
4 | g.6301652T>C | CA2839521 | WFS1 | c.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 |
4 | g.6301652T>G | CA438368511 | WFS1 | c.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=) | |
4 | g.6301652T= | CA1435771579 | WFS1 | c.1893T= (p.Ser631=) c.1834T= c.1857T= (p.Ser619=) c.1608T= (p.Ser536=) c.1516T= (n.1516T=) n.2042T= c.1866T= (p.Ser622=) | |
4 | g.6301653G>A | CA356176978 | WFS1 | c.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 |
4 | g.6301653G>C | CA2839522 | WFS1 | c.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 |
4 | g.6301653G= | CA1435771583 | WFS1 | c.1894G= (p.Val632=) c.1835G= c.1858G= (p.Val620=) c.1609G= (p.Val537=) c.1517G= (n.1517G=) n.2043G= c.1867G= (p.Val623=) | |
4 | g.6301653G>T | CA356176979 | WFS1 | c.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 |
4 | g.6301654T>A | CA356176980 | WFS1 | c.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) | |
4 | g.6301654T>C | CA2839524 | WFS1 | c.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 |
4 | g.6301654T>G | CA2839523 | WFS1 | c.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 |
4 | g.6301654T= | CA1435771587 | WFS1 | c.1895T= (p.Val632=) c.1836T= c.1859T= (p.Val620=) c.1610T= (p.Val537=) c.1518T= (n.1518T=) n.2044T= c.1868T= (p.Val623=) | |
4 | g.6301655G>A | CA438368515 | WFS1 | c.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=) | |
4 | g.6301655G>C | CA438368516 | WFS1 | c.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=) | |
4 | g.6301655G>T | CA438368517 | WFS1 | c.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=) | |
4 | g.6301656G>A | CA356176986 | WFS1 | c.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) | |
4 | g.6301656G>C | CA356176984 | WFS1 | c.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) | |
4 | g.6301656G>T | CA356176982 | WFS1 | c.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) | |
4 | g.6301657T>A | CA356176988 | WFS1 | c.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 |
4 | g.6301657T>C | CA356176991 | WFS1 | c.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 |
4 | g.6301657T>G | CA356176990 | WFS1 | c.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) | |
4 | g.6301658G>A | CA438368519 | WFS1 | c.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 |
4 | g.6301658G>C | CA2839525 | WFS1 | c.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 |
4 | g.6301658G= | CA1435771594 | WFS1 | c.1899G= (p.Val633=) c.1840G= c.1863G= (p.Val621=) c.1614G= (p.Val538=) c.1522G= (n.1522G=) n.2048G= c.1872G= (p.Val624=) | |
4 | g.6301658G>T | CA438368520 | WFS1 | c.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=) | |
4 | g.6301659G>A | CA356176994 | WFS1 | c.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) | |
4 | g.6301659G>C | CA356176996 | WFS1 | c.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) | |
4 | g.6301659G>T | CA356176997 | WFS1 | c.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) | |
4 | g.6301660G>A | CA356176999 | WFS1 | c.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 |
4 | g.6301660G>C | CA356177000 | WFS1 | c.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 |
4 | g.6301660G= | CA1435771598 | WFS1 | c.1901G= (p.Gly634=) c.1842G= c.1865G= (p.Gly622=) c.1616G= (p.Gly539=) c.1524G= (n.1524G=) n.2050G= c.1874G= (p.Gly625=) | |
4 | g.6301660G>T | CA2839526 | WFS1 | c.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 |
4 | g.6301661G>A | CA91796655 | WFS1 | c.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 |
4 | g.6301661G>C | CA438368527 | WFS1 | c.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=) | |
4 | g.6301661G= | CA1435771600 | WFS1 | c.1902G= (p.Gly634=) c.1843G= c.1866G= (p.Gly622=) c.1617G= (p.Gly539=) c.1525G= (n.1525G=) n.2051G= c.1875G= (p.Gly625=) | |
4 | g.6301661G>T | CA438368525 | WFS1 | c.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 |
4 | g.6301662del | CA2586973638 | WFS1 | c.1903del (p.Met635TrpfsTer2) c.1844del c.1867del (p.Met623TrpfsTer2) c.1618del (p.Met540TrpfsTer2) c.1526del (n.1526del) n.2052del c.1876del (p.Met626TrpfsTer2) | |
4 | g.6301662A= | CA1435771605 | WFS1 | c.1903A= (p.Met635=) c.1844A= c.1867A= (p.Met623=) c.1618A= (p.Met540=) c.1526A= (n.1526A=) n.2052A= c.1876A= (p.Met626=) | |
4 | g.6301662A>C | CA356177002 | WFS1 | c.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) | |
4 | g.6301662A>G | CA356177003 | WFS1 | c.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 |
4 | g.6301662A>T | CA356177004 | WFS1 | c.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) | |
4 | g.6301663T>A | CA16609252 | WFS1 | c.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 |
4 | g.6301663T>C | CA2839527 | WFS1 | c.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 |
4 | g.6301663T>G | CA356177005 | WFS1 | c.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 |
4 | g.6301663T= | CA1435771609 | WFS1 | c.1904T= (p.Met635=) c.1845T= c.1868T= (p.Met623=) c.1619T= (p.Met540=) c.1527T= (n.1527T=) n.2053T= c.1877T= (p.Met626=) | |
4 | g.6301665_6301667del | CA2669843455 | WFS1 | c.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 |
4 | g.6301664G>A | CA2839528 | WFS1 | c.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 |
4 | g.6301664G>C | CA356177006 | WFS1 | c.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) | |
4 | g.6301664G= | CA1435771613 | WFS1 | c.1905G= (p.Met635=) c.1846G= c.1869G= (p.Met623=) c.1620G= (p.Met540=) c.1528G= (n.1528G=) n.2054G= c.1878G= (p.Met626=) | |
4 | g.6301664G>T | CA356177007 | WFS1 | c.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) | |
4 | g.6301665G>A | CA356177008 | WFS1 | c.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 |
4 | g.6301665G>C | CA356177009 | WFS1 | c.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) | |
4 | g.6301665G>T | CA356177010 | WFS1 | c.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) | |
4 | g.6301666T>A | CA356177011 | WFS1 | c.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) | |
4 | g.6301666T>C | CA2839529 | WFS1 | c.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 |
4 | g.6301666T>G | CA356177012 | WFS1 | c.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 |
4 | g.6301666T= | CA1435771618 | WFS1 | c.1907T= (p.Val636=) c.1848T= c.1871T= (p.Val624=) c.1622T= (p.Val541=) c.1530T= (n.1530T=) n.2056T= c.1880T= (p.Val627=) |