Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6301852_6301866del | CA2578035734 | WFS1 | c.2093_2107del (p.Thr698_Cys702del) c.2034_2048del c.2057_2071del (p.Thr686_Cys690del) c.1808_1822del (p.Thr603_Cys607del) c.1716_1730del (n.1716_1730del) n.2242_2256del c.2066_2080del (p.Thr689_Cys693del) | gnomAD v4 |
4 | g.6301853C>A | CA438368430 | WFS1 | c.2094C>A (p.Thr698=) c.2035C>A c.2058C>A (p.Thr686=) c.1809C>A (p.Thr603=) c.1717C>A (n.1717C>A) n.2243C>A c.2067C>A (p.Thr689=) | |
4 | g.6301853C= | CA1435771977 | WFS1 | c.2094C= (p.Thr698=) c.2035C= c.2058C= (p.Thr686=) c.1809C= (p.Thr603=) c.1717C= (n.1717C=) n.2243C= c.2067C= (p.Thr689=) | |
4 | g.6301853C>G | CA438368431 | WFS1 | c.2094C>G (p.Thr698=) c.2035C>G c.2058C>G (p.Thr686=) c.1809C>G (p.Thr603=) c.1717C>G (n.1717C>G) n.2243C>G c.2067C>G (p.Thr689=) | dbSNP gnomAD v4 |
4 | g.6301853C>T | CA438368433 | WFS1 | c.2094C>T (p.Thr698=) c.2035C>T c.2058C>T (p.Thr686=) c.1809C>T (p.Thr603=) c.1717C>T (n.1717C>T) n.2243C>T c.2067C>T (p.Thr689=) | |
4 | g.6301854C>A | CA356177619 | WFS1 | c.2095C>A (p.Gln699Lys) c.2036C>A c.2059C>A (p.Gln687Lys) c.1810C>A (p.Gln604Lys) c.1718C>A (n.1718C>A) n.2244C>A c.2068C>A (p.Gln690Lys) | |
4 | g.6301854C= | CA1435771979 | WFS1 | c.2095C= (p.Gln699=) c.2036C= c.2059C= (p.Gln687=) c.1810C= (p.Gln604=) c.1718C= (n.1718C=) n.2244C= c.2068C= (p.Gln690=) | |
4 | g.6301854C>G | CA356177618 | WFS1 | c.2095C>G (p.Gln699Glu) c.2036C>G c.2059C>G (p.Gln687Glu) c.1810C>G (p.Gln604Glu) c.1718C>G (n.1718C>G) n.2244C>G c.2068C>G (p.Gln690Glu) | gnomAD v4 |
4 | g.6301854C>T | CA2839586 | WFS1 | c.2095C>T (p.Gln699Ter) c.2036C>T c.2059C>T (p.Gln687Ter) c.1810C>T (p.Gln604Ter) c.1718C>T (n.1718C>T) n.2244C>T c.2068C>T (p.Gln690Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301855A= | CA1435771981 | WFS1 | c.2096A= (p.Gln699=) c.2037A= c.2060A= (p.Gln687=) c.1811A= (p.Gln604=) c.1719A= (n.1719A=) n.2245A= c.2069A= (p.Gln690=) | |
4 | g.6301855A>C | CA356177620 | WFS1 | c.2096A>C (p.Gln699Pro) c.2037A>C c.2060A>C (p.Gln687Pro) c.1811A>C (p.Gln604Pro) c.1719A>C (n.1719A>C) n.2245A>C c.2069A>C (p.Gln690Pro) | gnomAD v4 |
4 | g.6301855A>G | CA356177621 | WFS1 | c.2096A>G (p.Gln699Arg) c.2037A>G c.2060A>G (p.Gln687Arg) c.1811A>G (p.Gln604Arg) c.1719A>G (n.1719A>G) n.2245A>G c.2069A>G (p.Gln690Arg) | dbSNP |
4 | g.6301855A>T | CA356177622 | WFS1 | c.2096A>T (p.Gln699Leu) c.2037A>T c.2060A>T (p.Gln687Leu) c.1811A>T (p.Gln604Leu) c.1719A>T (n.1719A>T) n.2245A>T c.2069A>T (p.Gln690Leu) | |
4 | g.6301856G>A | CA438368442 | WFS1 | c.2097G>A (p.Gln699=) c.2038G>A c.2061G>A (p.Gln687=) c.1812G>A (p.Gln604=) c.1720G>A (n.1720G>A) n.2246G>A c.2070G>A (p.Gln690=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
4 | g.6301856G>C | CA2839587 | WFS1 | c.2097G>C (p.Gln699His) c.2038G>C c.2061G>C (p.Gln687His) c.1812G>C (p.Gln604His) c.1720G>C (n.1720G>C) n.2246G>C c.2070G>C (p.Gln690His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301856G= | CA1435771982 | WFS1 | c.2097G= (p.Gln699=) c.2038G= c.2061G= (p.Gln687=) c.1812G= (p.Gln604=) c.1720G= (n.1720G=) n.2246G= c.2070G= (p.Gln690=) | |
4 | g.6301856G>T | CA356177623 | WFS1 | c.2097G>T (p.Gln699His) c.2038G>T c.2061G>T (p.Gln687His) c.1812G>T (p.Gln604His) c.1720G>T (n.1720G>T) n.2246G>T c.2070G>T (p.Gln690His) | ClinVar dbSNP gnomAD v4 |
4 | g.6301857A>C | CA356177624 | WFS1 | c.2098A>C (p.Ile700Leu) c.2039A>C c.2062A>C (p.Ile688Leu) c.1813A>C (p.Ile605Leu) c.1721A>C (n.1721A>C) n.2247A>C c.2071A>C (p.Ile691Leu) | |
4 | g.6301857A>G | CA356177626 | WFS1 | c.2098A>G (p.Ile700Val) c.2039A>G c.2062A>G (p.Ile688Val) c.1813A>G (p.Ile605Val) c.1721A>G (n.1721A>G) n.2247A>G c.2071A>G (p.Ile691Val) | gnomAD v4 |
4 | g.6301857A>T | CA356177625 | WFS1 | c.2098A>T (p.Ile700Phe) c.2039A>T c.2062A>T (p.Ile688Phe) c.1813A>T (p.Ile605Phe) c.1721A>T (n.1721A>T) n.2247A>T c.2071A>T (p.Ile691Phe) | |
4 | g.6301858T>A | CA356177627 | WFS1 | c.2099T>A (p.Ile700Asn) c.2040T>A c.2063T>A (p.Ile688Asn) c.1814T>A (p.Ile605Asn) c.1722T>A (n.1722T>A) n.2248T>A c.2072T>A (p.Ile691Asn) | |
4 | g.6301858T>C | CA91796801 | WFS1 | c.2099T>C (p.Ile700Thr) c.2040T>C c.2063T>C (p.Ile688Thr) c.1814T>C (p.Ile605Thr) c.1722T>C (n.1722T>C) n.2248T>C c.2072T>C (p.Ile691Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301858T>G | CA356177628 | WFS1 | c.2099T>G (p.Ile700Ser) c.2040T>G c.2063T>G (p.Ile688Ser) c.1814T>G (p.Ile605Ser) c.1722T>G (n.1722T>G) n.2248T>G c.2072T>G (p.Ile691Ser) | |
4 | g.6301858T= | CA1435771983 | WFS1 | c.2099T= (p.Ile700=) c.2040T= c.2063T= (p.Ile688=) c.1814T= (p.Ile605=) c.1722T= (n.1722T=) n.2248T= c.2072T= (p.Ile691=) | |
4 | g.6301859C>A | CA438368447 | WFS1 | c.2100C>A (p.Ile700=) c.2041C>A c.2064C>A (p.Ile688=) c.1815C>A (p.Ile605=) c.1723C>A (n.1723C>A) n.2249C>A c.2073C>A (p.Ile691=) | |
4 | g.6301859C= | CA1435771984 | WFS1 | c.2100C= (p.Ile700=) c.2041C= c.2064C= (p.Ile688=) c.1815C= (p.Ile605=) c.1723C= (n.1723C=) n.2249C= c.2073C= (p.Ile691=) | |
4 | g.6301859C>G | CA356177629 | WFS1 | c.2100C>G (p.Ile700Met) c.2041C>G c.2064C>G (p.Ile688Met) c.1815C>G (p.Ile605Met) c.1723C>G (n.1723C>G) n.2249C>G c.2073C>G (p.Ile691Met) | gnomAD v4 |
4 | g.6301859C>T | CA438368451 | WFS1 | c.2100C>T (p.Ile700=) c.2041C>T c.2064C>T (p.Ile688=) c.1815C>T (p.Ile605=) c.1723C>T (n.1723C>T) n.2249C>T c.2073C>T (p.Ile691=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301860C>A | CA356177630 | WFS1 | c.2101C>A (p.Leu701Ile) c.2042C>A c.2065C>A (p.Leu689Ile) c.1816C>A (p.Leu606Ile) c.1724C>A (n.1724C>A) n.2250C>A c.2074C>A (p.Leu692Ile) | |
4 | g.6301860C= | CA1435771986 | WFS1 | c.2101C= (p.Leu701=) c.2042C= c.2065C= (p.Leu689=) c.1816C= (p.Leu606=) c.1724C= (n.1724C=) n.2250C= c.2074C= (p.Leu692=) | |
4 | g.6301860C>G | CA2839588 | WFS1 | c.2101C>G (p.Leu701Val) c.2042C>G c.2065C>G (p.Leu689Val) c.1816C>G (p.Leu606Val) c.1724C>G (n.1724C>G) n.2250C>G c.2074C>G (p.Leu692Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301860C>T | CA91796805 | WFS1 | c.2101C>T (p.Leu701Phe) c.2042C>T c.2065C>T (p.Leu689Phe) c.1816C>T (p.Leu606Phe) c.1724C>T (n.1724C>T) n.2250C>T c.2074C>T (p.Leu692Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301861T>A | CA356177631 | WFS1 | c.2102T>A (p.Leu701His) c.2043T>A c.2066T>A (p.Leu689His) c.1817T>A (p.Leu606His) c.1725T>A (n.1725T>A) n.2251T>A c.2075T>A (p.Leu692His) | |
4 | g.6301861T>C | CA356177632 | WFS1 | c.2102T>C (p.Leu701Pro) c.2043T>C c.2066T>C (p.Leu689Pro) c.1817T>C (p.Leu606Pro) c.1725T>C (n.1725T>C) n.2251T>C c.2075T>C (p.Leu692Pro) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301861T>G | CA356177633 | WFS1 | c.2102T>G (p.Leu701Arg) c.2043T>G c.2066T>G (p.Leu689Arg) c.1817T>G (p.Leu606Arg) c.1725T>G (n.1725T>G) n.2251T>G c.2075T>G (p.Leu692Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301861T= | CA1435771987 | WFS1 | c.2102T= (p.Leu701=) c.2043T= c.2066T= (p.Leu689=) c.1817T= (p.Leu606=) c.1725T= (n.1725T=) n.2251T= c.2075T= (p.Leu692=) | |
4 | g.6301862C>A | CA438368453 | WFS1 | c.2103C>A (p.Leu701=) c.2044C>A c.2067C>A (p.Leu689=) c.1818C>A (p.Leu606=) c.1726C>A (n.1726C>A) n.2252C>A c.2076C>A (p.Leu692=) | |
4 | g.6301862C= | CA1435771988 | WFS1 | c.2103C= (p.Leu701=) c.2044C= c.2067C= (p.Leu689=) c.1818C= (p.Leu606=) c.1726C= (n.1726C=) n.2252C= c.2076C= (p.Leu692=) | |
4 | g.6301862C>G | CA438368455 | WFS1 | c.2103C>G (p.Leu701=) c.2044C>G c.2067C>G (p.Leu689=) c.1818C>G (p.Leu606=) c.1726C>G (n.1726C>G) n.2252C>G c.2076C>G (p.Leu692=) | dbSNP gnomAD v4 |
4 | g.6301862C>T | CA438368454 | WFS1 | c.2103C>T (p.Leu701=) c.2044C>T c.2067C>T (p.Leu689=) c.1818C>T (p.Leu606=) c.1726C>T (n.1726C>T) n.2252C>T c.2076C>T (p.Leu692=) | gnomAD v4 |
4 | g.6301865_6301874del | CA2586973642 | WFS1 | c.2106_2115del (p.Cys702TrpfsTer17) c.2047_2056del c.2070_2079del (p.Cys690TrpfsTer17) c.1821_1830del (p.Cys607TrpfsTer17) c.1729_1738del (n.1729_1738del) n.2255_2264del c.2079_2088del (p.Cys693TrpfsTer17) | |
4 | g.6301863T>A | CA356177634 | WFS1 | c.2104T>A (p.Cys702Ser) c.2045T>A c.2068T>A (p.Cys690Ser) c.1819T>A (p.Cys607Ser) c.1727T>A (n.1727T>A) n.2253T>A c.2077T>A (p.Cys693Ser) | |
4 | g.6301863T>C | CA2839589 | WFS1 | c.2104T>C (p.Cys702Arg) c.2045T>C c.2068T>C (p.Cys690Arg) c.1819T>C (p.Cys607Arg) c.1727T>C (n.1727T>C) n.2253T>C c.2077T>C (p.Cys693Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301863T>G | CA356177635 | WFS1 | c.2104T>G (p.Cys702Gly) c.2045T>G c.2068T>G (p.Cys690Gly) c.1819T>G (p.Cys607Gly) c.1727T>G (n.1727T>G) n.2253T>G c.2077T>G (p.Cys693Gly) | |
4 | g.6301863T= | CA1435771990 | WFS1 | c.2104T= (p.Cys702=) c.2045T= c.2068T= (p.Cys690=) c.1819T= (p.Cys607=) c.1727T= (n.1727T=) n.2253T= c.2077T= (p.Cys693=) | |
4 | g.6301864G>A | CA356177636 | WFS1 | c.2105G>A (p.Cys702Tyr) c.2046G>A c.2069G>A (p.Cys690Tyr) c.1820G>A (p.Cys607Tyr) c.1728G>A (n.1728G>A) n.2254G>A c.2078G>A (p.Cys693Tyr) | gnomAD v4 |
4 | g.6301864G>C | CA356177637 | WFS1 | c.2105G>C (p.Cys702Ser) c.2046G>C c.2069G>C (p.Cys690Ser) c.1820G>C (p.Cys607Ser) c.1728G>C (n.1728G>C) n.2254G>C c.2078G>C (p.Cys693Ser) | |
4 | g.6301864G>T | CA356177638 | WFS1 | c.2105G>T (p.Cys702Phe) c.2046G>T c.2069G>T (p.Cys690Phe) c.1820G>T (p.Cys607Phe) c.1728G>T (n.1728G>T) n.2254G>T c.2078G>T (p.Cys693Phe) | |
4 | g.6301865C>A | CA356177639 | WFS1 | c.2106C>A (p.Cys702Ter) c.2047C>A c.2070C>A (p.Cys690Ter) c.1821C>A (p.Cys607Ter) c.1729C>A (n.1729C>A) n.2255C>A c.2079C>A (p.Cys693Ter) | |
4 | g.6301865C= | CA1435771991 | WFS1 | c.2106C= (p.Cys702=) c.2047C= c.2070C= (p.Cys690=) c.1821C= (p.Cys607=) c.1729C= (n.1729C=) n.2255C= c.2079C= (p.Cys693=) | |
4 | g.6301865C>G | CA356177640 | WFS1 | c.2106C>G (p.Cys702Trp) c.2047C>G c.2070C>G (p.Cys690Trp) c.1821C>G (p.Cys607Trp) c.1729C>G (n.1729C>G) n.2255C>G c.2079C>G (p.Cys693Trp) | |
4 | g.6301865C>T | CA438368463 | WFS1 | c.2106C>T (p.Cys702=) c.2047C>T c.2070C>T (p.Cys690=) c.1821C>T (p.Cys607=) c.1729C>T (n.1729C>T) n.2255C>T c.2079C>T (p.Cys693=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301866A>C | CA356177643 | WFS1 | c.2107A>C (p.Ser703Arg) c.2048A>C c.2071A>C (p.Ser691Arg) c.1822A>C (p.Ser608Arg) c.1730A>C (n.1730A>C) n.2256A>C c.2080A>C (p.Ser694Arg) | |
4 | g.6301866A>G | CA356177642 | WFS1 | c.2107A>G (p.Ser703Gly) c.2048A>G c.2071A>G (p.Ser691Gly) c.1822A>G (p.Ser608Gly) c.1730A>G (n.1730A>G) n.2256A>G c.2080A>G (p.Ser694Gly) | gnomAD v4 |
4 | g.6301866A>T | CA356177641 | WFS1 | c.2107A>T (p.Ser703Cys) c.2048A>T c.2071A>T (p.Ser691Cys) c.1822A>T (p.Ser608Cys) c.1730A>T (n.1730A>T) n.2256A>T c.2080A>T (p.Ser694Cys) | |
4 | g.6301867G>A | CA356177644 | WFS1 | c.2108G>A (p.Ser703Asn) c.2049G>A c.2072G>A (p.Ser691Asn) c.1823G>A (p.Ser608Asn) c.1731G>A (n.1731G>A) n.2257G>A c.2081G>A (p.Ser694Asn) | |
4 | g.6301867G>C | CA356177645 | WFS1 | c.2108G>C (p.Ser703Thr) c.2049G>C c.2072G>C (p.Ser691Thr) c.1823G>C (p.Ser608Thr) c.1731G>C (n.1731G>C) n.2257G>C c.2081G>C (p.Ser694Thr) | gnomAD v4 |
4 | g.6301867G= | CA1435771992 | WFS1 | c.2108G= (p.Ser703=) c.2049G= c.2072G= (p.Ser691=) c.1823G= (p.Ser608=) c.1731G= (n.1731G=) n.2257G= c.2081G= (p.Ser694=) | |
4 | g.6301867G>T | CA356177646 | WFS1 | c.2108G>T (p.Ser703Ile) c.2049G>T c.2072G>T (p.Ser691Ile) c.1823G>T (p.Ser608Ile) c.1731G>T (n.1731G>T) n.2257G>T c.2081G>T (p.Ser694Ile) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301868C>A | CA356177647 | WFS1 | c.2109C>A (p.Ser703Arg) c.2050C>A c.2073C>A (p.Ser691Arg) c.1824C>A (p.Ser608Arg) c.1732C>A (n.1732C>A) n.2258C>A c.2082C>A (p.Ser694Arg) | |
4 | g.6301868C>G | CA356177648 | WFS1 | c.2109C>G (p.Ser703Arg) c.2050C>G c.2073C>G (p.Ser691Arg) c.1824C>G (p.Ser608Arg) c.1732C>G (n.1732C>G) n.2258C>G c.2082C>G (p.Ser694Arg) | |
4 | g.6301868C>T | CA438368468 | WFS1 | c.2109C>T (p.Ser703=) c.2050C>T c.2073C>T (p.Ser691=) c.1824C>T (p.Ser608=) c.1732C>T (n.1732C>T) n.2258C>T c.2082C>T (p.Ser694=) | |
4 | g.6301869C>A | CA356177649 | WFS1 | c.2110C>A (p.His704Asn) c.2051C>A c.2074C>A (p.His692Asn) c.1825C>A (p.His609Asn) c.1733C>A (n.1733C>A) n.2259C>A c.2083C>A (p.His695Asn) | |
4 | g.6301869C= | CA1435771994 | WFS1 | c.2110C= (p.His704=) c.2051C= c.2074C= (p.His692=) c.1825C= (p.His609=) c.1733C= (n.1733C=) n.2259C= c.2083C= (p.His695=) | |
4 | g.6301869C>G | CA356177650 | WFS1 | c.2110C>G (p.His704Asp) c.2051C>G c.2074C>G (p.His692Asp) c.1825C>G (p.His609Asp) c.1733C>G (n.1733C>G) n.2259C>G c.2083C>G (p.His695Asp) | |
4 | g.6301869C>T | CA356177651 | WFS1 | c.2110C>T (p.His704Tyr) c.2051C>T c.2074C>T (p.His692Tyr) c.1825C>T (p.His609Tyr) c.1733C>T (n.1733C>T) n.2259C>T c.2083C>T (p.His695Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301870A= | CA1435771995 | WFS1 | c.2111A= (p.His704=) c.2052A= c.2075A= (p.His692=) c.1826A= (p.His609=) c.1734A= (n.1734A=) n.2260A= c.2084A= (p.His695=) | |
4 | g.6301870A>C | CA356177652 | WFS1 | c.2111A>C (p.His704Pro) c.2052A>C c.2075A>C (p.His692Pro) c.1826A>C (p.His609Pro) c.1734A>C (n.1734A>C) n.2260A>C c.2084A>C (p.His695Pro) | |
4 | g.6301870A>G | CA356177654 | WFS1 | c.2111A>G (p.His704Arg) c.2052A>G c.2075A>G (p.His692Arg) c.1826A>G (p.His609Arg) c.1734A>G (n.1734A>G) n.2260A>G c.2084A>G (p.His695Arg) | dbSNP gnomAD v4 |
4 | g.6301870A>T | CA356177653 | WFS1 | c.2111A>T (p.His704Leu) c.2052A>T c.2075A>T (p.His692Leu) c.1826A>T (p.His609Leu) c.1734A>T (n.1734A>T) n.2260A>T c.2084A>T (p.His695Leu) | |
4 | g.6301871C>A | CA356177655 | WFS1 | c.2112C>A (p.His704Gln) c.2053C>A c.2076C>A (p.His692Gln) c.1827C>A (p.His609Gln) c.1735C>A (n.1735C>A) n.2261C>A c.2085C>A (p.His695Gln) | |
4 | g.6301871C= | CA1435771997 | WFS1 | c.2112C= (p.His704=) c.2053C= c.2076C= (p.His692=) c.1827C= (p.His609=) c.1735C= (n.1735C=) n.2261C= c.2085C= (p.His695=) | |
4 | g.6301871C>G | CA356177656 | WFS1 | c.2112C>G (p.His704Gln) c.2053C>G c.2076C>G (p.His692Gln) c.1827C>G (p.His609Gln) c.1735C>G (n.1735C>G) n.2261C>G c.2085C>G (p.His695Gln) | gnomAD v4 |
4 | g.6301871C>T | CA438368470 | WFS1 | c.2112C>T (p.His704=) c.2053C>T c.2076C>T (p.His692=) c.1827C>T (p.His609=) c.1735C>T (n.1735C>T) n.2261C>T c.2085C>T (p.His695=) | dbSNP gnomAD v4 |
4 | g.6301872C>A | CA356177657 | WFS1 | c.2113C>A (p.Leu705Met) c.2054C>A c.2077C>A (p.Leu693Met) c.1828C>A (p.Leu610Met) c.1736C>A (n.1736C>A) n.2262C>A c.2086C>A (p.Leu696Met) | |
4 | g.6301872C>G | CA356177658 | WFS1 | c.2113C>G (p.Leu705Val) c.2054C>G c.2077C>G (p.Leu693Val) c.1828C>G (p.Leu610Val) c.1736C>G (n.1736C>G) n.2262C>G c.2086C>G (p.Leu696Val) | |
4 | g.6301872C>T | CA438368474 | WFS1 | c.2113C>T (p.Leu705=) c.2054C>T c.2077C>T (p.Leu693=) c.1828C>T (p.Leu610=) c.1736C>T (n.1736C>T) n.2262C>T c.2086C>T (p.Leu696=) | |
4 | g.6301872_6301875dup | CA2760271234 | WFS1 | c.2113_2116dup (p.Glu706AlafsTer19) c.2054_2057dup c.2077_2080dup (p.Glu694AlafsTer19) c.1828_1831dup (p.Glu611AlafsTer19) c.1736_1739dup (n.1736_1739dup) n.2262_2265dup c.2086_2089dup (p.Glu697AlafsTer19) | |
4 | g.6301873T>A | CA356177659 | WFS1 | c.2114T>A (p.Leu705Gln) c.2055T>A c.2078T>A (p.Leu693Gln) c.1829T>A (p.Leu610Gln) c.1737T>A (n.1737T>A) n.2263T>A c.2087T>A (p.Leu696Gln) | |
4 | g.6301873T>C | CA356177661 | WFS1 | c.2114T>C (p.Leu705Pro) c.2055T>C c.2078T>C (p.Leu693Pro) c.1829T>C (p.Leu610Pro) c.1737T>C (n.1737T>C) n.2263T>C c.2087T>C (p.Leu696Pro) | ClinVar |
4 | g.6301873T>G | CA356177660 | WFS1 | c.2114T>G (p.Leu705Arg) c.2055T>G c.2078T>G (p.Leu693Arg) c.1829T>G (p.Leu610Arg) c.1737T>G (n.1737T>G) n.2263T>G c.2087T>G (p.Leu696Arg) | |
4 | g.6301874G>A | CA2839590 | WFS1 | c.2115G>A (p.Leu705=) c.2056G>A c.2079G>A (p.Leu693=) c.1830G>A (p.Leu610=) c.1738G>A (n.1738G>A) n.2264G>A c.2088G>A (p.Leu696=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301874G>C | CA438368478 | WFS1 | c.2115G>C (p.Leu705=) c.2056G>C c.2079G>C (p.Leu693=) c.1830G>C (p.Leu610=) c.1738G>C (n.1738G>C) n.2264G>C c.2088G>C (p.Leu696=) | |
4 | g.6301874G= | CA1435771998 | WFS1 | c.2115G= (p.Leu705=) c.2056G= c.2079G= (p.Leu693=) c.1830G= (p.Leu610=) c.1738G= (n.1738G=) n.2264G= c.2088G= (p.Leu696=) | |
4 | g.6301874G>T | CA438368480 | WFS1 | c.2115G>T (p.Leu705=) c.2056G>T c.2079G>T (p.Leu693=) c.1830G>T (p.Leu610=) c.1738G>T (n.1738G>T) n.2264G>T c.2088G>T (p.Leu696=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301875_6301900del | CA2739270016 | WFS1 | c.2116_2141del (p.Glu706ProfsTer9) c.2057_2082del c.2080_2105del (p.Glu694ProfsTer9) c.1831_1856del (p.Glu611ProfsTer9) c.1739_1764del (n.1739_1764del) n.2265_2290del c.2089_2114del (p.Glu697ProfsTer9) | ClinVar |
4 | g.6301875G>A | CA356177662 | WFS1 | c.2116G>A (p.Glu706Lys) c.2057G>A c.2080G>A (p.Glu694Lys) c.1831G>A (p.Glu611Lys) c.1739G>A (n.1739G>A) n.2265G>A c.2089G>A (p.Glu697Lys) | |
4 | g.6301875G>C | CA179665 | WFS1 | c.2116G>C (p.Glu706Gln) c.2057G>C c.2080G>C (p.Glu694Gln) c.1831G>C (p.Glu611Gln) c.1739G>C (n.1739G>C) n.2265G>C c.2089G>C (p.Glu697Gln) | ClinVar dbSNP |
4 | g.6301875G= | CA1435772000 | WFS1 | c.2116G= (p.Glu706=) c.2057G= c.2080G= (p.Glu694=) c.1831G= (p.Glu611=) c.1739G= (n.1739G=) n.2265G= c.2089G= (p.Glu697=) | |
4 | g.6301875G>T | CA2839591 | WFS1 | c.2116G>T (p.Glu706Ter) c.2057G>T c.2080G>T (p.Glu694Ter) c.1831G>T (p.Glu611Ter) c.1739G>T (n.1739G>T) n.2265G>T c.2089G>T (p.Glu697Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301876del | CA2586973643 | WFS1 | c.2117del (p.Glu706GlyfsTer16) c.2058del c.2081del (p.Glu694GlyfsTer16) c.1832del (p.Glu611GlyfsTer16) c.1740del (n.1740del) n.2266del c.2090del (p.Glu697GlyfsTer16) | |
4 | g.6301876A>C | CA356177663 | WFS1 | c.2117A>C (p.Glu706Ala) c.2058A>C c.2081A>C (p.Glu694Ala) c.1832A>C (p.Glu611Ala) c.1740A>C (n.1740A>C) n.2266A>C c.2090A>C (p.Glu697Ala) | |
4 | g.6301876A>G | CA356177664 | WFS1 | c.2117A>G (p.Glu706Gly) c.2058A>G c.2081A>G (p.Glu694Gly) c.1832A>G (p.Glu611Gly) c.1740A>G (n.1740A>G) n.2266A>G c.2090A>G (p.Glu697Gly) | |
4 | g.6301876A>T | CA356177665 | WFS1 | c.2117A>T (p.Glu706Val) c.2058A>T c.2081A>T (p.Glu694Val) c.1832A>T (p.Glu611Val) c.1740A>T (n.1740A>T) n.2266A>T c.2090A>T (p.Glu697Val) | |
4 | g.6301877G>A | CA438368485 | WFS1 | c.2118G>A (p.Glu706=) c.2059G>A c.2082G>A (p.Glu694=) c.1833G>A (p.Glu611=) c.1741G>A (n.1741G>A) n.2267G>A c.2091G>A (p.Glu697=) | ClinVar gnomAD v4 |
4 | g.6301877G>C | CA2839592 | WFS1 | c.2118G>C (p.Glu706Asp) c.2059G>C c.2082G>C (p.Glu694Asp) c.1833G>C (p.Glu611Asp) c.1741G>C (n.1741G>C) n.2267G>C c.2091G>C (p.Glu697Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301877G= | CA1435772003 | WFS1 | c.2118G= (p.Glu706=) c.2059G= c.2082G= (p.Glu694=) c.1833G= (p.Glu611=) c.1741G= (n.1741G=) n.2267G= c.2091G= (p.Glu697=) | |
4 | g.6301877G>T | CA356177666 | WFS1 | c.2118G>T (p.Glu706Asp) c.2059G>T c.2082G>T (p.Glu694Asp) c.1833G>T (p.Glu611Asp) c.1741G>T (n.1741G>T) n.2267G>T c.2091G>T (p.Glu697Asp) | |
4 | g.6301878G>A | CA356177667 | WFS1 | c.2119G>A (p.Gly707Ser) c.2060G>A c.2083G>A (p.Gly695Ser) c.1834G>A (p.Gly612Ser) c.1742G>A (n.1742G>A) n.2268G>A c.2092G>A (p.Gly698Ser) | ClinVar dbSNP gnomAD v4 |
4 | g.6301878G>C | CA356177668 | WFS1 | c.2119G>C (p.Gly707Arg) c.2060G>C c.2083G>C (p.Gly695Arg) c.1834G>C (p.Gly612Arg) c.1742G>C (n.1742G>C) n.2268G>C c.2092G>C (p.Gly698Arg) | |
4 | g.6301878G= | CA1435772005 | WFS1 | c.2119G= (p.Gly707=) c.2060G= c.2083G= (p.Gly695=) c.1834G= (p.Gly612=) c.1742G= (n.1742G=) n.2268G= c.2092G= (p.Gly698=) | |
4 | g.6301878G>T | CA356177669 | WFS1 | c.2119G>T (p.Gly707Cys) c.2060G>T c.2083G>T (p.Gly695Cys) c.1834G>T (p.Gly612Cys) c.1742G>T (n.1742G>T) n.2268G>T c.2092G>T (p.Gly698Cys) | |
4 | g.6301879G>A | CA2839593 | WFS1 | c.2120G>A (p.Gly707Asp) c.2061G>A c.2084G>A (p.Gly695Asp) c.1835G>A (p.Gly612Asp) c.1743G>A (n.1743G>A) n.2269G>A c.2093G>A (p.Gly698Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301879G>C | CA356177670 | WFS1 | c.2120G>C (p.Gly707Ala) c.2061G>C c.2084G>C (p.Gly695Ala) c.1835G>C (p.Gly612Ala) c.1743G>C (n.1743G>C) n.2269G>C c.2093G>C (p.Gly698Ala) | |
4 | g.6301879G= | CA1435772007 | WFS1 | c.2120G= (p.Gly707=) c.2061G= c.2084G= (p.Gly695=) c.1835G= (p.Gly612=) c.1743G= (n.1743G=) n.2269G= c.2093G= (p.Gly698=) | |
4 | g.6301879G>T | CA253186 | WFS1 | c.2120G>T (p.Gly707Val) c.2061G>T c.2084G>T (p.Gly695Val) c.1835G>T (p.Gly612Val) c.1743G>T (n.1743G>T) n.2269G>T c.2093G>T (p.Gly698Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301880C>A | CA438368490 | WFS1 | c.2121C>A (p.Gly707=) c.2062C>A c.2085C>A (p.Gly695=) c.1836C>A (p.Gly612=) c.1744C>A (n.1744C>A) n.2270C>A c.2094C>A (p.Gly698=) | |
4 | g.6301880C= | CA1435772010 | WFS1 | c.2121C= (p.Gly707=) c.2062C= c.2085C= (p.Gly695=) c.1836C= (p.Gly612=) c.1744C= (n.1744C=) n.2270C= c.2094C= (p.Gly698=) | |
4 | g.6301880C>G | CA438368492 | WFS1 | c.2121C>G (p.Gly707=) c.2062C>G c.2085C>G (p.Gly695=) c.1836C>G (p.Gly612=) c.1744C>G (n.1744C>G) n.2270C>G c.2094C>G (p.Gly698=) | |
4 | g.6301880C>T | CA2839594 | WFS1 | c.2121C>T (p.Gly707=) c.2062C>T c.2085C>T (p.Gly695=) c.1836C>T (p.Gly612=) c.1744C>T (n.1744C>T) n.2270C>T c.2094C>T (p.Gly698=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301881C>A | CA356177671 | WFS1 | c.2122C>A (p.His708Asn) c.2063C>A c.2086C>A (p.His696Asn) c.1837C>A (p.His613Asn) c.1745C>A (n.1745C>A) n.2271C>A c.2095C>A (p.His699Asn) | |
4 | g.6301881C>G | CA356177673 | WFS1 | c.2122C>G (p.His708Asp) c.2063C>G c.2086C>G (p.His696Asp) c.1837C>G (p.His613Asp) c.1745C>G (n.1745C>G) n.2271C>G c.2095C>G (p.His699Asp) | |
4 | g.6301881C>T | CA356177672 | WFS1 | c.2122C>T (p.His708Tyr) c.2063C>T c.2086C>T (p.His696Tyr) c.1837C>T (p.His613Tyr) c.1745C>T (n.1745C>T) n.2271C>T c.2095C>T (p.His699Tyr) | |
4 | g.6301882A>C | CA356177674 | WFS1 | c.2123A>C (p.His708Pro) c.2064A>C c.2087A>C (p.His696Pro) c.1838A>C (p.His613Pro) c.1746A>C (n.1746A>C) n.2272A>C c.2096A>C (p.His699Pro) | |
4 | g.6301882A>G | CA356177675 | WFS1 | c.2123A>G (p.His708Arg) c.2064A>G c.2087A>G (p.His696Arg) c.1838A>G (p.His613Arg) c.1746A>G (n.1746A>G) n.2272A>G c.2096A>G (p.His699Arg) | |
4 | g.6301882A>T | CA356177676 | WFS1 | c.2123A>T (p.His708Leu) c.2064A>T c.2087A>T (p.His696Leu) c.1838A>T (p.His613Leu) c.1746A>T (n.1746A>T) n.2272A>T c.2096A>T (p.His699Leu) | |
4 | g.6301883C>A | CA356177677 | WFS1 | c.2124C>A (p.His708Gln) c.2065C>A c.2088C>A (p.His696Gln) c.1839C>A (p.His613Gln) c.1747C>A (n.1747C>A) n.2273C>A c.2097C>A (p.His699Gln) | |
4 | g.6301883C= | CA1435772012 | WFS1 | c.2124C= (p.His708=) c.2065C= c.2088C= (p.His696=) c.1839C= (p.His613=) c.1747C= (n.1747C=) n.2273C= c.2097C= (p.His699=) | |
4 | g.6301883C>G | CA356177678 | WFS1 | c.2124C>G (p.His708Gln) c.2065C>G c.2088C>G (p.His696Gln) c.1839C>G (p.His613Gln) c.1747C>G (n.1747C>G) n.2273C>G c.2097C>G (p.His699Gln) | gnomAD v4 |
4 | g.6301883C>T | CA438368495 | WFS1 | c.2124C>T (p.His708=) c.2065C>T c.2088C>T (p.His696=) c.1839C>T (p.His613=) c.1747C>T (n.1747C>T) n.2273C>T c.2097C>T (p.His699=) | dbSNP gnomAD v4 |
4 | g.6301884A= | CA1435772013 | WFS1 | c.2125A= (p.Arg709=) c.2066A= c.2089A= (p.Arg697=) c.1840A= (p.Arg614=) c.1748A= (n.1748A=) n.2274A= c.2098A= (p.Arg700=) | |
4 | g.6301884A>C | CA438368497 | WFS1 | c.2125A>C (p.Arg709=) c.2066A>C c.2089A>C (p.Arg697=) c.1840A>C (p.Arg614=) c.1748A>C (n.1748A>C) n.2274A>C c.2098A>C (p.Arg700=) | |
4 | g.6301884A>G | CA356177679 | WFS1 | c.2125A>G (p.Arg709Gly) c.2066A>G c.2089A>G (p.Arg697Gly) c.1840A>G (p.Arg614Gly) c.1748A>G (n.1748A>G) n.2274A>G c.2098A>G (p.Arg700Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301884A>T | CA356177680 | WFS1 | c.2125A>T (p.Arg709Trp) c.2066A>T c.2089A>T (p.Arg697Trp) c.1840A>T (p.Arg614Trp) c.1748A>T (n.1748A>T) n.2274A>T c.2098A>T (p.Arg700Trp) | |
4 | g.6301885G>A | CA356177681 | WFS1 | c.2126G>A (p.Arg709Lys) c.2067G>A c.2090G>A (p.Arg697Lys) c.1841G>A (p.Arg614Lys) c.1749G>A (n.1749G>A) n.2275G>A c.2099G>A (p.Arg700Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301885G>C | CA356177682 | WFS1 | c.2126G>C (p.Arg709Thr) c.2067G>C c.2090G>C (p.Arg697Thr) c.1841G>C (p.Arg614Thr) c.1749G>C (n.1749G>C) n.2275G>C c.2099G>C (p.Arg700Thr) | |
4 | g.6301885G= | CA1435772015 | WFS1 | c.2126G= (p.Arg709=) c.2067G= c.2090G= (p.Arg697=) c.1841G= (p.Arg614=) c.1749G= (n.1749G=) n.2275G= c.2099G= (p.Arg700=) | |
4 | g.6301885G>T | CA356177683 | WFS1 | c.2126G>T (p.Arg709Met) c.2067G>T c.2090G>T (p.Arg697Met) c.1841G>T (p.Arg614Met) c.1749G>T (n.1749G>T) n.2275G>T c.2099G>T (p.Arg700Met) | |
4 | g.6301886G>A | CA438368498 | WFS1 | c.2127G>A (p.Arg709=) c.2068G>A c.2091G>A (p.Arg697=) c.1842G>A (p.Arg614=) c.1750G>A (n.1750G>A) n.2276G>A c.2100G>A (p.Arg700=) | dbSNP gnomAD v4 |
4 | g.6301886G>C | CA2839595 | WFS1 | c.2127G>C (p.Arg709Ser) c.2068G>C c.2091G>C (p.Arg697Ser) c.1842G>C (p.Arg614Ser) c.1750G>C (n.1750G>C) n.2276G>C c.2100G>C (p.Arg700Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301886G= | CA1435772016 | WFS1 | c.2127G= (p.Arg709=) c.2068G= c.2091G= (p.Arg697=) c.1842G= (p.Arg614=) c.1750G= (n.1750G=) n.2276G= c.2100G= (p.Arg700=) | |
4 | g.6301886G>T | CA356177684 | WFS1 | c.2127G>T (p.Arg709Ser) c.2068G>T c.2091G>T (p.Arg697Ser) c.1842G>T (p.Arg614Ser) c.1750G>T (n.1750G>T) n.2276G>T c.2100G>T (p.Arg700Ser) | |
4 | g.6301887G>A | CA356177687 | WFS1 | c.2128G>A (p.Val710Ile) c.2069G>A c.2092G>A (p.Val698Ile) c.1843G>A (p.Val615Ile) c.1751G>A (n.1751G>A) n.2277G>A c.2101G>A (p.Val701Ile) | |
4 | g.6301887G>C | CA356177686 | WFS1 | c.2128G>C (p.Val710Leu) c.2069G>C c.2092G>C (p.Val698Leu) c.1843G>C (p.Val615Leu) c.1751G>C (n.1751G>C) n.2277G>C c.2101G>C (p.Val701Leu) | |
4 | g.6301887G= | CA1435772018 | WFS1 | c.2128G= (p.Val710=) c.2069G= c.2092G= (p.Val698=) c.1843G= (p.Val615=) c.1751G= (n.1751G=) n.2277G= c.2101G= (p.Val701=) | |
4 | g.6301887G>T | CA91796819 | WFS1 | c.2128G>T (p.Val710Phe) c.2069G>T c.2092G>T (p.Val698Phe) c.1843G>T (p.Val615Phe) c.1751G>T (n.1751G>T) n.2277G>T c.2101G>T (p.Val701Phe) | dbSNP gnomAD v4 |
4 | g.6301888T>A | CA356177688 | WFS1 | c.2129T>A (p.Val710Asp) c.2070T>A c.2093T>A (p.Val698Asp) c.1844T>A (p.Val615Asp) c.1752T>A (n.1752T>A) n.2278T>A c.2102T>A (p.Val701Asp) | |
4 | g.6301888T>C | CA356177689 | WFS1 | c.2129T>C (p.Val710Ala) c.2070T>C c.2093T>C (p.Val698Ala) c.1844T>C (p.Val615Ala) c.1752T>C (n.1752T>C) n.2278T>C c.2102T>C (p.Val701Ala) | |
4 | g.6301888T>G | CA356177690 | WFS1 | c.2129T>G (p.Val710Gly) c.2070T>G c.2093T>G (p.Val698Gly) c.1844T>G (p.Val615Gly) c.1752T>G (n.1752T>G) n.2278T>G c.2102T>G (p.Val701Gly) | |
4 | g.6301889C>A | CA2839596 | WFS1 | c.2130C>A (p.Val710=) c.2071C>A c.2094C>A (p.Val698=) c.1845C>A (p.Val615=) c.1753C>A (n.1753C>A) n.2279C>A c.2103C>A (p.Val701=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301889C= | CA1435772019 | WFS1 | c.2130C= (p.Val710=) c.2071C= c.2094C= (p.Val698=) c.1845C= (p.Val615=) c.1753C= (n.1753C=) n.2279C= c.2103C= (p.Val701=) | |
4 | g.6301889C>G | CA438368503 | WFS1 | c.2130C>G (p.Val710=) c.2071C>G c.2094C>G (p.Val698=) c.1845C>G (p.Val615=) c.1753C>G (n.1753C>G) n.2279C>G c.2103C>G (p.Val701=) | |
4 | g.6301889C>T | CA438368505 | WFS1 | c.2130C>T (p.Val710=) c.2071C>T c.2094C>T (p.Val698=) c.1845C>T (p.Val615=) c.1753C>T (n.1753C>T) n.2279C>T c.2103C>T (p.Val701=) | |
4 | g.6301890A>C | CA356177691 | WFS1 | c.2131A>C (p.Thr711Pro) c.2072A>C c.2095A>C (p.Thr699Pro) c.1846A>C (p.Thr616Pro) c.1754A>C (n.1754A>C) n.2280A>C c.2104A>C (p.Thr702Pro) | gnomAD v4 |
4 | g.6301890A>G | CA356177692 | WFS1 | c.2131A>G (p.Thr711Ala) c.2072A>G c.2095A>G (p.Thr699Ala) c.1846A>G (p.Thr616Ala) c.1754A>G (n.1754A>G) n.2280A>G c.2104A>G (p.Thr702Ala) | |
4 | g.6301890A>T | CA356177693 | WFS1 | c.2131A>T (p.Thr711Ser) c.2072A>T c.2095A>T (p.Thr699Ser) c.1846A>T (p.Thr616Ser) c.1754A>T (n.1754A>T) n.2280A>T c.2104A>T (p.Thr702Ser) | |
4 | g.6301891C>A | CA356177694 | WFS1 | c.2132C>A (p.Thr711Lys) c.2073C>A c.2096C>A (p.Thr699Lys) c.1847C>A (p.Thr616Lys) c.1755C>A (n.1755C>A) n.2281C>A c.2105C>A (p.Thr702Lys) | |
4 | g.6301891C= | CA1435772020 | WFS1 | c.2132C= (p.Thr711=) c.2073C= c.2096C= (p.Thr699=) c.1847C= (p.Thr616=) c.1755C= (n.1755C=) n.2281C= c.2105C= (p.Thr702=) | |
4 | g.6301891C>G | CA356177695 | WFS1 | c.2132C>G (p.Thr711Arg) c.2073C>G c.2096C>G (p.Thr699Arg) c.1847C>G (p.Thr616Arg) c.1755C>G (n.1755C>G) n.2281C>G c.2105C>G (p.Thr702Arg) | |
4 | g.6301891C>T | CA253201 | WFS1 | c.2132C>T (p.Thr711Met) c.2073C>T c.2096C>T (p.Thr699Met) c.1847C>T (p.Thr616Met) c.1755C>T (n.1755C>T) n.2281C>T c.2105C>T (p.Thr702Met) | ClinVar dbSNP gnomAD v4 |
4 | g.6301892G>A | CA2839597 | WFS1 | c.2133G>A (p.Thr711=) c.2074G>A c.2097G>A (p.Thr699=) c.1848G>A (p.Thr616=) c.1756G>A (n.1756G>A) n.2282G>A c.2106G>A (p.Thr702=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301892G>C | CA438368513 | WFS1 | c.2133G>C (p.Thr711=) c.2074G>C c.2097G>C (p.Thr699=) c.1848G>C (p.Thr616=) c.1756G>C (n.1756G>C) n.2282G>C c.2106G>C (p.Thr702=) | |
4 | g.6301892G= | CA1435772022 | WFS1 | c.2133G= (p.Thr711=) c.2074G= c.2097G= (p.Thr699=) c.1848G= (p.Thr616=) c.1756G= (n.1756G=) n.2282G= c.2106G= (p.Thr702=) | |
4 | g.6301892G>T | CA438368510 | WFS1 | c.2133G>T (p.Thr711=) c.2074G>T c.2097G>T (p.Thr699=) c.1848G>T (p.Thr616=) c.1756G>T (n.1756G>T) n.2282G>T c.2106G>T (p.Thr702=) | |
4 | g.6301893T>A | CA356177698 | WFS1 | c.2134T>A (p.Trp712Arg) c.2075T>A c.2098T>A (p.Trp700Arg) c.1849T>A (p.Trp617Arg) c.1757T>A (n.1757T>A) n.2283T>A c.2107T>A (p.Trp703Arg) | ClinVar |
4 | g.6301893T>C | CA356177697 | WFS1 | c.2134T>C (p.Trp712Arg) c.2075T>C c.2098T>C (p.Trp700Arg) c.1849T>C (p.Trp617Arg) c.1757T>C (n.1757T>C) n.2283T>C c.2107T>C (p.Trp703Arg) | |
4 | g.6301893T>G | CA356177696 | WFS1 | c.2134T>G (p.Trp712Gly) c.2075T>G c.2098T>G (p.Trp700Gly) c.1849T>G (p.Trp617Gly) c.1757T>G (n.1757T>G) n.2283T>G c.2107T>G (p.Trp703Gly) | |
4 | g.6301894G>A | CA2839598 | WFS1 | c.2135G>A (p.Trp712Ter) c.2076G>A c.2099G>A (p.Trp700Ter) c.1850G>A (p.Trp617Ter) c.1758G>A (n.1758G>A) n.2284G>A c.2108G>A (p.Trp703Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301894G>C | CA356177699 | WFS1 | c.2135G>C (p.Trp712Ser) c.2076G>C c.2099G>C (p.Trp700Ser) c.1850G>C (p.Trp617Ser) c.1758G>C (n.1758G>C) n.2284G>C c.2108G>C (p.Trp703Ser) | |
4 | g.6301894G= | CA1435772024 | WFS1 | c.2135G= (p.Trp712=) c.2076G= c.2099G= (p.Trp700=) c.1850G= (p.Trp617=) c.1758G= (n.1758G=) n.2284G= c.2108G= (p.Trp703=) | |
4 | g.6301894G>T | CA356177700 | WFS1 | c.2135G>T (p.Trp712Leu) c.2076G>T c.2099G>T (p.Trp700Leu) c.1850G>T (p.Trp617Leu) c.1758G>T (n.1758G>T) n.2284G>T c.2108G>T (p.Trp703Leu) | ClinVar |
4 | g.6301895G>A | CA356177703 | WFS1 | c.2136G>A (p.Trp712Ter) c.2077G>A c.2100G>A (p.Trp700Ter) c.1851G>A (p.Trp617Ter) c.1759G>A (n.1759G>A) n.2285G>A c.2109G>A (p.Trp703Ter) | COSMIC |
4 | g.6301895G>C | CA356177704 | WFS1 | c.2136G>C (p.Trp712Cys) c.2077G>C c.2100G>C (p.Trp700Cys) c.1851G>C (p.Trp617Cys) c.1759G>C (n.1759G>C) n.2285G>C c.2109G>C (p.Trp703Cys) | ClinVar |
4 | g.6301895G>T | CA356177706 | WFS1 | c.2136G>T (p.Trp712Cys) c.2077G>T c.2100G>T (p.Trp700Cys) c.1851G>T (p.Trp617Cys) c.1759G>T (n.1759G>T) n.2285G>T c.2109G>T (p.Trp703Cys) | gnomAD v4 |
4 | g.6301896A= | CA1435772025 | WFS1 | c.2137A= (p.Thr713=) c.2078A= c.2101A= (p.Thr701=) c.1852A= (p.Thr618=) c.1760A= (n.1760A=) n.2286A= c.2110A= (p.Thr704=) | |
4 | g.6301896A>C | CA356177708 | WFS1 | c.2137A>C (p.Thr713Pro) c.2078A>C c.2101A>C (p.Thr701Pro) c.1852A>C (p.Thr618Pro) c.1760A>C (n.1760A>C) n.2286A>C c.2110A>C (p.Thr704Pro) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301896A>G | CA356177710 | WFS1 | c.2137A>G (p.Thr713Ala) c.2078A>G c.2101A>G (p.Thr701Ala) c.1852A>G (p.Thr618Ala) c.1760A>G (n.1760A>G) n.2286A>G c.2110A>G (p.Thr704Ala) | gnomAD v4 |
4 | g.6301896A>T | CA356177711 | WFS1 | c.2137A>T (p.Thr713Ser) c.2078A>T c.2101A>T (p.Thr701Ser) c.1852A>T (p.Thr618Ser) c.1760A>T (n.1760A>T) n.2286A>T c.2110A>T (p.Thr704Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301897C>A | CA356177713 | WFS1 | c.2138C>A (p.Thr713Asn) c.2079C>A c.2102C>A (p.Thr701Asn) c.1853C>A (p.Thr618Asn) c.1761C>A (n.1761C>A) n.2287C>A c.2111C>A (p.Thr704Asn) | |
4 | g.6301897C= | CA1435772027 | WFS1 | c.2138C= (p.Thr713=) c.2079C= c.2102C= (p.Thr701=) c.1853C= (p.Thr618=) c.1761C= (n.1761C=) n.2287C= c.2111C= (p.Thr704=) | |
4 | g.6301897C>G | CA2839600 | WFS1 | c.2138C>G (p.Thr713Ser) c.2079C>G c.2102C>G (p.Thr701Ser) c.1853C>G (p.Thr618Ser) c.1761C>G (n.1761C>G) n.2287C>G c.2111C>G (p.Thr704Ser) | dbSNP ExAC gnomAD v2 |
4 | g.6301897C>T | CA2839599 | WFS1 | c.2138C>T (p.Thr713Ile) c.2079C>T c.2102C>T (p.Thr701Ile) c.1853C>T (p.Thr618Ile) c.1761C>T (n.1761C>T) n.2287C>T c.2111C>T (p.Thr704Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.6301898del | CA2697557066 | WFS1 | c.2139del (p.Gly714AlafsTer8) c.2080del c.2103del (p.Gly702AlafsTer8) c.1854del (p.Gly619AlafsTer8) c.1762del (n.1762del) n.2288del c.2112del (p.Gly705AlafsTer8) | ClinVar |
4 | g.6301898C>A | CA438368521 | WFS1 | c.2139C>A (p.Thr713=) c.2080C>A c.2103C>A (p.Thr701=) c.1854C>A (p.Thr618=) c.1762C>A (n.1762C>A) n.2288C>A c.2112C>A (p.Thr704=) | |
4 | g.6301898C= | CA1435772030 | WFS1 | c.2139C= (p.Thr713=) c.2080C= c.2103C= (p.Thr701=) c.1854C= (p.Thr618=) c.1762C= (n.1762C=) n.2288C= c.2112C= (p.Thr704=) | |
4 | g.6301898C>G | CA91796829 | WFS1 | c.2139C>G (p.Thr713=) c.2080C>G c.2103C>G (p.Thr701=) c.1854C>G (p.Thr618=) c.1762C>G (n.1762C>G) n.2288C>G c.2112C>G (p.Thr704=) | dbSNP |
4 | g.6301898C>T | CA179667 | WFS1 | c.2139C>T (p.Thr713=) c.2080C>T c.2103C>T (p.Thr701=) c.1854C>T (p.Thr618=) c.1762C>T (n.1762C>T) n.2288C>T c.2112C>T (p.Thr704=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301899G>A | CA2839601 | WFS1 | c.2140G>A (p.Gly714Ser) c.2081G>A c.2104G>A (p.Gly702Ser) c.1855G>A (p.Gly619Ser) c.1763G>A (n.1763G>A) n.2289G>A c.2113G>A (p.Gly705Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6301899G>C | CA356177718 | WFS1 | c.2140G>C (p.Gly714Arg) c.2081G>C c.2104G>C (p.Gly702Arg) c.1855G>C (p.Gly619Arg) c.1763G>C (n.1763G>C) n.2289G>C c.2113G>C (p.Gly705Arg) | |
4 | g.6301899G= | CA1435772032 | WFS1 | c.2140G= (p.Gly714=) c.2081G= c.2104G= (p.Gly702=) c.1855G= (p.Gly619=) c.1763G= (n.1763G=) n.2289G= c.2113G= (p.Gly705=) | |
4 | g.6301899G>T | CA356177719 | WFS1 | c.2140G>T (p.Gly714Cys) c.2081G>T c.2104G>T (p.Gly702Cys) c.1855G>T (p.Gly619Cys) c.1763G>T (n.1763G>T) n.2289G>T c.2113G>T (p.Gly705Cys) | gnomAD v4 |
4 | g.6301900G>A | CA356177722 | WFS1 | c.2141G>A (p.Gly714Asp) c.2082G>A c.2105G>A (p.Gly702Asp) c.1856G>A (p.Gly619Asp) c.1764G>A (n.1764G>A) n.2290G>A c.2114G>A (p.Gly705Asp) | |
4 | g.6301900G>C | CA356177723 | WFS1 | c.2141G>C (p.Gly714Ala) c.2082G>C c.2105G>C (p.Gly702Ala) c.1856G>C (p.Gly619Ala) c.1764G>C (n.1764G>C) n.2290G>C c.2114G>C (p.Gly705Ala) | |
4 | g.6301900G>T | CA356177724 | WFS1 | c.2141G>T (p.Gly714Val) c.2082G>T c.2105G>T (p.Gly702Val) c.1856G>T (p.Gly619Val) c.1764G>T (n.1764G>T) n.2290G>T c.2114G>T (p.Gly705Val) | |
4 | g.6301901C>A | CA438368526 | WFS1 | c.2142C>A (p.Gly714=) c.2083C>A c.2106C>A (p.Gly702=) c.1857C>A (p.Gly619=) c.1765C>A (n.1765C>A) n.2291C>A c.2115C>A (p.Gly705=) | |
4 | g.6301901C>G | CA438368528 | WFS1 | c.2142C>G (p.Gly714=) c.2083C>G c.2106C>G (p.Gly702=) c.1857C>G (p.Gly619=) c.1765C>G (n.1765C>G) n.2291C>G c.2115C>G (p.Gly705=) | |
4 | g.6301901C>T | CA438368529 | WFS1 | c.2142C>T (p.Gly714=) c.2083C>T c.2106C>T (p.Gly702=) c.1857C>T (p.Gly619=) c.1765C>T (n.1765C>T) n.2291C>T c.2115C>T (p.Gly705=) | |
4 | g.6301902C>A | CA356177726 | WFS1 | c.2143C>A (p.Arg715Ser) c.2084C>A c.2107C>A (p.Arg703Ser) c.1858C>A (p.Arg620Ser) c.1766C>A (n.1766C>A) n.2292C>A c.2116C>A (p.Arg706Ser) | |
4 | g.6301902C= | CA1435772034 | WFS1 | c.2143C= (p.Arg715=) c.2084C= c.2107C= (p.Arg703=) c.1858C= (p.Arg620=) c.1766C= (n.1766C=) n.2292C= c.2116C= (p.Arg706=) | |
4 | g.6301902C>G | CA356177728 | WFS1 | c.2143C>G (p.Arg715Gly) c.2084C>G c.2107C>G (p.Arg703Gly) c.1858C>G (p.Arg620Gly) c.1766C>G (n.1766C>G) n.2292C>G c.2116C>G (p.Arg706Gly) | |
4 | g.6301902C>T | CA2839602 | WFS1 | c.2143C>T (p.Arg715Cys) c.2084C>T c.2107C>T (p.Arg703Cys) c.1858C>T (p.Arg620Cys) c.1766C>T (n.1766C>T) n.2292C>T c.2116C>T (p.Arg706Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301903G>A | CA356177732 | WFS1 | c.2144G>A (p.Arg715His) c.2085G>A c.2108G>A (p.Arg703His) c.1859G>A (p.Arg620His) c.1767G>A (n.1767G>A) n.2293G>A c.2117G>A (p.Arg706His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301903G>C | CA356177733 | WFS1 | c.2144G>C (p.Arg715Pro) c.2085G>C c.2108G>C (p.Arg703Pro) c.1859G>C (p.Arg620Pro) c.1767G>C (n.1767G>C) n.2293G>C c.2117G>C (p.Arg706Pro) | |
4 | g.6301903G= | CA1435772035 | WFS1 | c.2144G= (p.Arg715=) c.2085G= c.2108G= (p.Arg703=) c.1859G= (p.Arg620=) c.1767G= (n.1767G=) n.2293G= c.2117G= (p.Arg706=) | |
4 | g.6301903G>T | CA356177735 | WFS1 | c.2144G>T (p.Arg715Leu) c.2085G>T c.2108G>T (p.Arg703Leu) c.1859G>T (p.Arg620Leu) c.1767G>T (n.1767G>T) n.2293G>T c.2117G>T (p.Arg706Leu) | gnomAD v4 |
4 | g.6301904C>A | CA438368535 | WFS1 | c.2145C>A (p.Arg715=) c.2086C>A c.2109C>A (p.Arg703=) c.1860C>A (p.Arg620=) c.1768C>A (n.1768C>A) n.2294C>A c.2118C>A (p.Arg706=) | |
4 | g.6301904C= | CA1435772037 | WFS1 | c.2145C= (p.Arg715=) c.2086C= c.2109C= (p.Arg703=) c.1860C= (p.Arg620=) c.1768C= (n.1768C=) n.2294C= c.2118C= (p.Arg706=) | |
4 | g.6301904C>G | CA438368538 | WFS1 | c.2145C>G (p.Arg715=) c.2086C>G c.2109C>G (p.Arg703=) c.1860C>G (p.Arg620=) c.1768C>G (n.1768C>G) n.2294C>G c.2118C>G (p.Arg706=) | |
4 | g.6301904C>T | CA2839603 | WFS1 | c.2145C>T (p.Arg715=) c.2086C>T c.2109C>T (p.Arg703=) c.1860C>T (p.Arg620=) c.1768C>T (n.1768C>T) n.2294C>T c.2118C>T (p.Arg706=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301905T>A | CA356177738 | WFS1 | c.2146T>A (p.Phe716Ile) c.2087T>A c.2110T>A (p.Phe704Ile) c.1861T>A (p.Phe621Ile) c.1769T>A (n.1769T>A) n.2295T>A c.2119T>A (p.Phe707Ile) | |
4 | g.6301905T>C | CA356177739 | WFS1 | c.2146T>C (p.Phe716Leu) c.2087T>C c.2110T>C (p.Phe704Leu) c.1861T>C (p.Phe621Leu) c.1769T>C (n.1769T>C) n.2295T>C c.2119T>C (p.Phe707Leu) | |
4 | g.6301905T>G | CA356177740 | WFS1 | c.2146T>G (p.Phe716Val) c.2087T>G c.2110T>G (p.Phe704Val) c.1861T>G (p.Phe621Val) c.1769T>G (n.1769T>G) n.2295T>G c.2119T>G (p.Phe707Val) | |
4 | g.6301906T>A | CA356177744 | WFS1 | c.2147T>A (p.Phe716Tyr) c.2088T>A c.2111T>A (p.Phe704Tyr) c.1862T>A (p.Phe621Tyr) c.1770T>A (n.1770T>A) n.2296T>A c.2120T>A (p.Phe707Tyr) | |
4 | g.6301906T>C | CA356177746 | WFS1 | c.2147T>C (p.Phe716Ser) c.2088T>C c.2111T>C (p.Phe704Ser) c.1862T>C (p.Phe621Ser) c.1770T>C (n.1770T>C) n.2296T>C c.2120T>C (p.Phe707Ser) | |
4 | g.6301906T>G | CA356177742 | WFS1 | c.2147T>G (p.Phe716Cys) c.2088T>G c.2111T>G (p.Phe704Cys) c.1862T>G (p.Phe621Cys) c.1770T>G (n.1770T>G) n.2296T>G c.2120T>G (p.Phe707Cys) | |
4 | g.6301907C>A | CA356177748 | WFS1 | c.2148C>A (p.Phe716Leu) c.2089C>A c.2112C>A (p.Phe704Leu) c.1863C>A (p.Phe621Leu) c.1771C>A (n.1771C>A) n.2297C>A c.2121C>A (p.Phe707Leu) | |
4 | g.6301907C>G | CA356177750 | WFS1 | c.2148C>G (p.Phe716Leu) c.2089C>G c.2112C>G (p.Phe704Leu) c.1863C>G (p.Phe621Leu) c.1771C>G (n.1771C>G) n.2297C>G c.2121C>G (p.Phe707Leu) | |
4 | g.6301907C>T | CA438368541 | WFS1 | c.2148C>T (p.Phe716=) c.2089C>T c.2112C>T (p.Phe704=) c.1863C>T (p.Phe621=) c.1771C>T (n.1771C>T) n.2297C>T c.2121C>T (p.Phe707=) | COSMIC |
4 | g.6301908A>C | CA356177752 | WFS1 | c.2149A>C (p.Lys717Gln) c.2090A>C c.2113A>C (p.Lys705Gln) c.1864A>C (p.Lys622Gln) c.1772A>C (n.1772A>C) n.2298A>C c.2122A>C (p.Lys708Gln) | |
4 | g.6301908A>G | CA356177753 | WFS1 | c.2149A>G (p.Lys717Glu) c.2090A>G c.2113A>G (p.Lys705Glu) c.1864A>G (p.Lys622Glu) c.1772A>G (n.1772A>G) n.2298A>G c.2122A>G (p.Lys708Glu) | ClinVar dbSNP |
4 | g.6301908A>T | CA356177755 | WFS1 | c.2149A>T (p.Lys717Ter) c.2090A>T c.2113A>T (p.Lys705Ter) c.1864A>T (p.Lys622Ter) c.1772A>T (n.1772A>T) n.2298A>T c.2122A>T (p.Lys708Ter) | |
4 | g.6301909A>C | CA356177757 | WFS1 | c.2150A>C (p.Lys717Thr) c.2091A>C c.2114A>C (p.Lys705Thr) c.1865A>C (p.Lys622Thr) c.1773A>C (n.1773A>C) n.2299A>C c.2123A>C (p.Lys708Thr) | |
4 | g.6301909A>G | CA356177758 | WFS1 | c.2150A>G (p.Lys717Arg) c.2091A>G c.2114A>G (p.Lys705Arg) c.1865A>G (p.Lys622Arg) c.1773A>G (n.1773A>G) n.2299A>G c.2123A>G (p.Lys708Arg) | gnomAD v4 |
4 | g.6301909A>T | CA356177759 | WFS1 | c.2150A>T (p.Lys717Met) c.2091A>T c.2114A>T (p.Lys705Met) c.1865A>T (p.Lys622Met) c.1773A>T (n.1773A>T) n.2299A>T c.2123A>T (p.Lys708Met) | |
4 | g.6301910G>A | CA438368543 | WFS1 | c.2151G>A (p.Lys717=) c.2092G>A c.2115G>A (p.Lys705=) c.1866G>A (p.Lys622=) c.1774G>A (n.1774G>A) n.2300G>A c.2124G>A (p.Lys708=) | gnomAD v4 |
4 | g.6301910G>C | CA356177762 | WFS1 | c.2151G>C (p.Lys717Asn) c.2092G>C c.2115G>C (p.Lys705Asn) c.1866G>C (p.Lys622Asn) c.1774G>C (n.1774G>C) n.2300G>C c.2124G>C (p.Lys708Asn) | ClinVar dbSNP |
4 | g.6301910G>T | CA356177763 | WFS1 | c.2151G>T (p.Lys717Asn) c.2092G>T c.2115G>T (p.Lys705Asn) c.1866G>T (p.Lys622Asn) c.1774G>T (n.1774G>T) n.2300G>T c.2124G>T (p.Lys708Asn) | |
4 | g.6301911T>A | CA356177765 | WFS1 | c.2152T>A (p.Tyr718Asn) c.2093T>A c.2116T>A (p.Tyr706Asn) c.1867T>A (p.Tyr623Asn) c.1775T>A (n.1775T>A) n.2301T>A c.2125T>A (p.Tyr709Asn) | |
4 | g.6301911T>C | CA356177766 | WFS1 | c.2152T>C (p.Tyr718His) c.2093T>C c.2116T>C (p.Tyr706His) c.1867T>C (p.Tyr623His) c.1775T>C (n.1775T>C) n.2301T>C c.2125T>C (p.Tyr709His) | |
4 | g.6301911T>G | CA356177768 | WFS1 | c.2152T>G (p.Tyr718Asp) c.2093T>G c.2116T>G (p.Tyr706Asp) c.1867T>G (p.Tyr623Asp) c.1775T>G (n.1775T>G) n.2301T>G c.2125T>G (p.Tyr709Asp) | |
4 | g.6301912A>C | CA356177772 | WFS1 | c.2153A>C (p.Tyr718Ser) c.2094A>C c.2117A>C (p.Tyr706Ser) c.1868A>C (p.Tyr623Ser) c.1776A>C (n.1776A>C) n.2302A>C c.2126A>C (p.Tyr709Ser) | |
4 | g.6301912A>G | CA356177771 | WFS1 | c.2153A>G (p.Tyr718Cys) c.2094A>G c.2117A>G (p.Tyr706Cys) c.1868A>G (p.Tyr623Cys) c.1776A>G (n.1776A>G) n.2302A>G c.2126A>G (p.Tyr709Cys) | |
4 | g.6301912A>T | CA356177770 | WFS1 | c.2153A>T (p.Tyr718Phe) c.2094A>T c.2117A>T (p.Tyr706Phe) c.1868A>T (p.Tyr623Phe) c.1776A>T (n.1776A>T) n.2302A>T c.2126A>T (p.Tyr709Phe) | |
4 | g.6301913C>A | CA356177774 | WFS1 | c.2154C>A (p.Tyr718Ter) c.2095C>A c.2118C>A (p.Tyr706Ter) c.1869C>A (p.Tyr623Ter) c.1777C>A (n.1777C>A) n.2303C>A c.2127C>A (p.Tyr709Ter) | |
4 | g.6301913C= | CA1435772039 | WFS1 | c.2154C= (p.Tyr718=) c.2095C= c.2118C= (p.Tyr706=) c.1869C= (p.Tyr623=) c.1777C= (n.1777C=) n.2303C= c.2127C= (p.Tyr709=) | |
4 | g.6301913C>G | CA356177775 | WFS1 | c.2154C>G (p.Tyr718Ter) c.2095C>G c.2118C>G (p.Tyr706Ter) c.1869C>G (p.Tyr623Ter) c.1777C>G (n.1777C>G) n.2303C>G c.2127C>G (p.Tyr709Ter) | |
4 | g.6301913C>T | CA2839604 | WFS1 | c.2154C>T (p.Tyr718=) c.2095C>T c.2118C>T (p.Tyr706=) c.1869C>T (p.Tyr623=) c.1777C>T (n.1777C>T) n.2303C>T c.2127C>T (p.Tyr709=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6301914G>A | CA325333 | WFS1 | c.2155G>A (p.Val719Ile) c.2096G>A c.2119G>A (p.Val707Ile) c.1870G>A (p.Val624Ile) c.1778G>A (n.1778G>A) n.2304G>A c.2128G>A (p.Val710Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301914G>C | CA356177779 | WFS1 | c.2155G>C (p.Val719Leu) c.2096G>C c.2119G>C (p.Val707Leu) c.1870G>C (p.Val624Leu) c.1778G>C (n.1778G>C) n.2304G>C c.2128G>C (p.Val710Leu) | gnomAD v4 |
4 | g.6301914G= | CA1435772042 | WFS1 | c.2155G= (p.Val719=) c.2096G= c.2119G= (p.Val707=) c.1870G= (p.Val624=) c.1778G= (n.1778G=) n.2304G= c.2128G= (p.Val710=) | |
4 | g.6301914G>T | CA259830 | WFS1 | c.2155G>T (p.Val719Phe) c.2096G>T c.2119G>T (p.Val707Phe) c.1870G>T (p.Val624Phe) c.1778G>T (n.1778G>T) n.2304G>T c.2128G>T (p.Val710Phe) | ClinVar dbSNP |
4 | g.[6301914G>T;6302444del] | CA2742038358 | WFS1 | c.[2155G>T;2685del] (p.[Val719Phe;Phe896SerfsTer?]) c.[2096G>T;2626del] c.[2119G>T;2649del] (p.[Val707Phe;Phe884SerfsTer?]) c.[1870G>T;2400del] (p.[Val624Phe;Phe801SerfsTer?]) n.[2304G>T;2834del] c.[2128G>T;2658del] (p.[Val710Phe;Phe887SerfsTer?]) | |
4 | g.6301915T>A | CA356177782 | WFS1 | c.2156T>A (p.Val719Asp) c.2097T>A c.2120T>A (p.Val707Asp) c.1871T>A (p.Val624Asp) c.1779T>A (n.1779T>A) n.2305T>A c.2129T>A (p.Val710Asp) | |
4 | g.6301915T>C | CA356177784 | WFS1 | c.2156T>C (p.Val719Ala) c.2097T>C c.2120T>C (p.Val707Ala) c.1871T>C (p.Val624Ala) c.1779T>C (n.1779T>C) n.2305T>C c.2129T>C (p.Val710Ala) | dbSNP |
4 | g.6301915T>G | CA356177785 | WFS1 | c.2156T>G (p.Val719Gly) c.2097T>G c.2120T>G (p.Val707Gly) c.1871T>G (p.Val624Gly) c.1779T>G (n.1779T>G) n.2305T>G c.2129T>G (p.Val710Gly) | |
4 | g.6301915T= | CA1435772044 | WFS1 | c.2156T= (p.Val719=) c.2097T= c.2120T= (p.Val707=) c.1871T= (p.Val624=) c.1779T= (n.1779T=) n.2305T= c.2129T= (p.Val710=) | |
4 | g.6301916C>A | CA438368555 | WFS1 | c.2157C>A (p.Val719=) c.2098C>A c.2121C>A (p.Val707=) c.1872C>A (p.Val624=) c.1780C>A (n.1780C>A) n.2306C>A c.2130C>A (p.Val710=) | ClinVar |
4 | g.6301916C>G | CA438368558 | WFS1 | c.2157C>G (p.Val719=) c.2098C>G c.2121C>G (p.Val707=) c.1872C>G (p.Val624=) c.1780C>G (n.1780C>G) n.2306C>G c.2130C>G (p.Val710=) | |
4 | g.6301916C>T | CA438368561 | WFS1 | c.2157C>T (p.Val719=) c.2098C>T c.2121C>T (p.Val707=) c.1872C>T (p.Val624=) c.1780C>T (n.1780C>T) n.2306C>T c.2130C>T (p.Val710=) | gnomAD v4 |
4 | g.6301917C>A | CA356177786 | WFS1 | c.2158C>A (p.Arg720Ser) c.2099C>A c.2122C>A (p.Arg708Ser) c.1873C>A (p.Arg625Ser) c.1781C>A (n.1781C>A) n.2307C>A c.2131C>A (p.Arg711Ser) | |
4 | g.6301917C= | CA1435772045 | WFS1 | c.2158C= (p.Arg720=) c.2099C= c.2122C= (p.Arg708=) c.1873C= (p.Arg625=) c.1781C= (n.1781C=) n.2307C= c.2131C= (p.Arg711=) | |
4 | g.6301917C>G | CA356177787 | WFS1 | c.2158C>G (p.Arg720Gly) c.2099C>G c.2122C>G (p.Arg708Gly) c.1873C>G (p.Arg625Gly) c.1781C>G (n.1781C>G) n.2307C>G c.2131C>G (p.Arg711Gly) | |
4 | g.6301917C>T | CA2839605 | WFS1 | c.2158C>T (p.Arg720Cys) c.2099C>T c.2122C>T (p.Arg708Cys) c.1873C>T (p.Arg625Cys) c.1781C>T (n.1781C>T) n.2307C>T c.2131C>T (p.Arg711Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301918G>A | CA2839606 | WFS1 | c.2159G>A (p.Arg720His) c.2100G>A c.2123G>A (p.Arg708His) c.1874G>A (p.Arg625His) c.1782G>A (n.1782G>A) n.2308G>A c.2132G>A (p.Arg711His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301918G>C | CA356177790 | WFS1 | c.2159G>C (p.Arg720Pro) c.2100G>C c.2123G>C (p.Arg708Pro) c.1874G>C (p.Arg625Pro) c.1782G>C (n.1782G>C) n.2308G>C c.2132G>C (p.Arg711Pro) | |
4 | g.6301918G= | CA1435772046 | WFS1 | c.2159G= (p.Arg720=) c.2100G= c.2123G= (p.Arg708=) c.1874G= (p.Arg625=) c.1782G= (n.1782G=) n.2308G= c.2132G= (p.Arg711=) | |
4 | g.6301918G>T | CA356177789 | WFS1 | c.2159G>T (p.Arg720Leu) c.2100G>T c.2123G>T (p.Arg708Leu) c.1874G>T (p.Arg625Leu) c.1782G>T (n.1782G>T) n.2308G>T c.2132G>T (p.Arg711Leu) | ClinVar gnomAD v4 |
4 | g.6301919C>A | CA438368562 | WFS1 | c.2160C>A (p.Arg720=) c.2101C>A c.2124C>A (p.Arg708=) c.1875C>A (p.Arg625=) c.1783C>A (n.1783C>A) n.2309C>A c.2133C>A (p.Arg711=) | |
4 | g.6301919C= | CA1435772047 | WFS1 | c.2160C= (p.Arg720=) c.2101C= c.2124C= (p.Arg708=) c.1875C= (p.Arg625=) c.1783C= (n.1783C=) n.2309C= c.2133C= (p.Arg711=) | |
4 | g.6301919C>G | CA438368564 | WFS1 | c.2160C>G (p.Arg720=) c.2101C>G c.2124C>G (p.Arg708=) c.1875C>G (p.Arg625=) c.1783C>G (n.1783C>G) n.2309C>G c.2133C>G (p.Arg711=) | |
4 | g.6301919C>T | CA295793 | WFS1 | c.2160C>T (p.Arg720=) c.2101C>T c.2124C>T (p.Arg708=) c.1875C>T (p.Arg625=) c.1783C>T (n.1783C>T) n.2309C>T c.2133C>T (p.Arg711=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301920G>A | CA2839607 | WFS1 | c.2161G>A (p.Val721Met) c.2102G>A c.2125G>A (p.Val709Met) c.1876G>A (p.Val626Met) c.1784G>A (n.1784G>A) n.2310G>A c.2134G>A (p.Val712Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301920G>C | CA356177793 | WFS1 | c.2161G>C (p.Val721Leu) c.2102G>C c.2125G>C (p.Val709Leu) c.1876G>C (p.Val626Leu) c.1784G>C (n.1784G>C) n.2310G>C c.2134G>C (p.Val712Leu) | |
4 | g.6301920G= | CA1435772048 | WFS1 | c.2161G= (p.Val721=) c.2102G= c.2125G= (p.Val709=) c.1876G= (p.Val626=) c.1784G= (n.1784G=) n.2310G= c.2134G= (p.Val712=) | |
4 | g.6301920G>T | CA356177797 | WFS1 | c.2161G>T (p.Val721Leu) c.2102G>T c.2125G>T (p.Val709Leu) c.1876G>T (p.Val626Leu) c.1784G>T (n.1784G>T) n.2310G>T c.2134G>T (p.Val712Leu) | |
4 | g.6301921_6301922del | CA2669843472 | WFS1 | c.2162_2163del (p.Val721AspfsTer2) c.2103_2104del c.2126_2127del (p.Val709AspfsTer2) c.1877_1878del (p.Val626AspfsTer2) c.1785_1786del (n.1785_1786del) n.2311_2312del c.2135_2136del (p.Val712AspfsTer2) | gnomAD v4 |
4 | g.6301921T>A | CA356177799 | WFS1 | c.2162T>A (p.Val721Glu) c.2103T>A c.2126T>A (p.Val709Glu) c.1877T>A (p.Val626Glu) c.1785T>A (n.1785T>A) n.2311T>A c.2135T>A (p.Val712Glu) | |
4 | g.6301921T>C | CA356177801 | WFS1 | c.2162T>C (p.Val721Ala) c.2103T>C c.2126T>C (p.Val709Ala) c.1877T>C (p.Val626Ala) c.1785T>C (n.1785T>C) n.2311T>C c.2135T>C (p.Val712Ala) | |
4 | g.6301921T>G | CA356177804 | WFS1 | c.2162T>G (p.Val721Gly) c.2103T>G c.2126T>G (p.Val709Gly) c.1877T>G (p.Val626Gly) c.1785T>G (n.1785T>G) n.2311T>G c.2135T>G (p.Val712Gly) | gnomAD v4 |
4 | g.6301922G>A | CA438368568 | WFS1 | c.2163G>A (p.Val721=) c.2104G>A c.2127G>A (p.Val709=) c.1878G>A (p.Val626=) c.1786G>A (n.1786G>A) n.2312G>A c.2136G>A (p.Val712=) | |
4 | g.6301922G>C | CA2839608 | WFS1 | c.2163G>C (p.Val721=) c.2104G>C c.2127G>C (p.Val709=) c.1878G>C (p.Val626=) c.1786G>C (n.1786G>C) n.2312G>C c.2136G>C (p.Val712=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301922G= | CA1435772050 | WFS1 | c.2163G= (p.Val721=) c.2104G= c.2127G= (p.Val709=) c.1878G= (p.Val626=) c.1786G= (n.1786G=) n.2312G= c.2136G= (p.Val712=) | |
4 | g.6301922G>T | CA438368572 | WFS1 | c.2163G>T (p.Val721=) c.2104G>T c.2127G>T (p.Val709=) c.1878G>T (p.Val626=) c.1786G>T (n.1786G>T) n.2312G>T c.2136G>T (p.Val712=) | dbSNP |
4 | g.6301923A= | CA1435772051 | WFS1 | c.2164A= (p.Thr722=) c.2105A= c.2128A= (p.Thr710=) c.1879A= (p.Thr627=) c.1787A= (n.1787A=) n.2313A= c.2137A= (p.Thr713=) | |
4 | g.6301923A>C | CA356177805 | WFS1 | c.2164A>C (p.Thr722Pro) c.2105A>C c.2128A>C (p.Thr710Pro) c.1879A>C (p.Thr627Pro) c.1787A>C (n.1787A>C) n.2313A>C c.2137A>C (p.Thr713Pro) | COSMIC |
4 | g.6301923A>G | CA356177806 | WFS1 | c.2164A>G (p.Thr722Ala) c.2105A>G c.2128A>G (p.Thr710Ala) c.1879A>G (p.Thr627Ala) c.1787A>G (n.1787A>G) n.2313A>G c.2137A>G (p.Thr713Ala) | |
4 | g.6301923A>T | CA356177807 | WFS1 | c.2164A>T (p.Thr722Ser) c.2105A>T c.2128A>T (p.Thr710Ser) c.1879A>T (p.Thr627Ser) c.1787A>T (n.1787A>T) n.2313A>T c.2137A>T (p.Thr713Ser) | |
4 | g.6301923_6301924insT | CA1435772054 | WFS1 | c.2164_2165insT (p.Thr722IlefsTer2) c.2105_2106insT c.2128_2129insT (p.Thr710IlefsTer2) c.1879_1880insT (p.Thr627IlefsTer2) c.1787_1788insT (n.1787_1788insT) n.2313_2314insT c.2137_2138insT (p.Thr713IlefsTer2) | dbSNP |
4 | g.6301924C>A | CA356177810 | WFS1 | c.2165C>A (p.Thr722Asn) c.2106C>A c.2129C>A (p.Thr710Asn) c.1880C>A (p.Thr627Asn) c.1788C>A (n.1788C>A) n.2314C>A c.2138C>A (p.Thr713Asn) | |
4 | g.6301924C= | CA1435772055 | WFS1 | c.2165C= (p.Thr722=) c.2106C= c.2129C= (p.Thr710=) c.1880C= (p.Thr627=) c.1788C= (n.1788C=) n.2314C= c.2138C= (p.Thr713=) | |
4 | g.6301924C>G | CA2839609 | WFS1 | c.2165C>G (p.Thr722Ser) c.2106C>G c.2129C>G (p.Thr710Ser) c.1880C>G (p.Thr627Ser) c.1788C>G (n.1788C>G) n.2314C>G c.2138C>G (p.Thr713Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301924C>T | CA356177812 | WFS1 | c.2165C>T (p.Thr722Ile) c.2106C>T c.2129C>T (p.Thr710Ile) c.1880C>T (p.Thr627Ile) c.1788C>T (n.1788C>T) n.2314C>T c.2138C>T (p.Thr713Ile) | gnomAD v4 |
4 | g.6301925T>A | CA438368580 | WFS1 | c.2166T>A (p.Thr722=) c.2107T>A c.2130T>A (p.Thr710=) c.1881T>A (p.Thr627=) c.1789T>A (n.1789T>A) n.2315T>A c.2139T>A (p.Thr713=) | |
4 | g.6301925T>C | CA91796850 | WFS1 | c.2166T>C (p.Thr722=) c.2107T>C c.2130T>C (p.Thr710=) c.1881T>C (p.Thr627=) c.1789T>C (n.1789T>C) n.2315T>C c.2139T>C (p.Thr713=) | dbSNP |
4 | g.6301925T>G | CA438368582 | WFS1 | c.2166T>G (p.Thr722=) c.2107T>G c.2130T>G (p.Thr710=) c.1881T>G (p.Thr627=) c.1789T>G (n.1789T>G) n.2315T>G c.2139T>G (p.Thr713=) | |
4 | g.6301925T= | CA1435772057 | WFS1 | c.2166T= (p.Thr722=) c.2107T= c.2130T= (p.Thr710=) c.1881T= (p.Thr627=) c.1789T= (n.1789T=) n.2315T= c.2139T= (p.Thr713=) | |
4 | g.6301925_6301931delinsTGACATC | CA1435772058 | WFS1 | c.2166_2172delinsTGACATC (p.Thr722=) c.2107_2113delinsTGACATC c.2130_2136delinsTGACATC (p.Thr710=) c.1881_1887delinsTGACATC (p.Thr627=) c.1789_1795delinsTGACATC (n.1789_1795delinsTGACATC) n.2315_2321delinsTGACATC c.2139_2145delinsTGACATC (p.Thr713=) | |
4 | g.6301926G>A | CA2839610 | WFS1 | c.2167G>A (p.Asp723Asn) c.2108G>A c.2131G>A (p.Asp711Asn) c.1882G>A (p.Asp628Asn) c.1790G>A (n.1790G>A) n.2316G>A c.2140G>A (p.Asp714Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301926G>C | CA356177815 | WFS1 | c.2167G>C (p.Asp723His) c.2108G>C c.2131G>C (p.Asp711His) c.1882G>C (p.Asp628His) c.1790G>C (n.1790G>C) n.2316G>C c.2140G>C (p.Asp714His) | gnomAD v4 |
4 | g.6301926G= | CA1435772061 | WFS1 | c.2167G= (p.Asp723=) c.2108G= c.2131G= (p.Asp711=) c.1882G= (p.Asp628=) c.1790G= (n.1790G=) n.2316G= c.2140G= (p.Asp714=) | |
4 | g.6301926G>T | CA356177814 | WFS1 | c.2167G>T (p.Asp723Tyr) c.2108G>T c.2131G>T (p.Asp711Tyr) c.1882G>T (p.Asp628Tyr) c.1790G>T (n.1790G>T) n.2316G>T c.2140G>T (p.Asp714Tyr) | |
4 | g.6301930_6301935del | CA1435772060 | WFS1 | c.2171_2176del (p.Ile724_Asp725del) c.2112_2117del c.2135_2140del (p.Ile712_Asp713del) c.1886_1891del (p.Ile629_Asp630del) c.1794_1799del (n.1794_1799del) n.2320_2325del c.2144_2149del (p.Ile715_Asp716del) | dbSNP |
4 | g.6301927A>C | CA356177817 | WFS1 | c.2168A>C (p.Asp723Ala) c.2109A>C c.2132A>C (p.Asp711Ala) c.1883A>C (p.Asp628Ala) c.1791A>C (n.1791A>C) n.2317A>C c.2141A>C (p.Asp714Ala) | |
4 | g.6301927A>G | CA356177819 | WFS1 | c.2168A>G (p.Asp723Gly) c.2109A>G c.2132A>G (p.Asp711Gly) c.1883A>G (p.Asp628Gly) c.1791A>G (n.1791A>G) n.2317A>G c.2141A>G (p.Asp714Gly) | |
4 | g.6301927A>T | CA356177821 | WFS1 | c.2168A>T (p.Asp723Val) c.2109A>T c.2132A>T (p.Asp711Val) c.1883A>T (p.Asp628Val) c.1791A>T (n.1791A>T) n.2317A>T c.2141A>T (p.Asp714Val) | |
4 | g.6301928C>A | CA356177823 | WFS1 | c.2169C>A (p.Asp723Glu) c.2110C>A c.2133C>A (p.Asp711Glu) c.1884C>A (p.Asp628Glu) c.1792C>A (n.1792C>A) n.2318C>A c.2142C>A (p.Asp714Glu) | |
4 | g.6301928C= | CA1435772063 | WFS1 | c.2169C= (p.Asp723=) c.2110C= c.2133C= (p.Asp711=) c.1884C= (p.Asp628=) c.1792C= (n.1792C=) n.2318C= c.2142C= (p.Asp714=) | |
4 | g.6301928C>G | CA356177825 | WFS1 | c.2169C>G (p.Asp723Glu) c.2110C>G c.2133C>G (p.Asp711Glu) c.1884C>G (p.Asp628Glu) c.1792C>G (n.1792C>G) n.2318C>G c.2142C>G (p.Asp714Glu) | |
4 | g.6301928C>T | CA438368587 | WFS1 | c.2169C>T (p.Asp723=) c.2110C>T c.2133C>T (p.Asp711=) c.1884C>T (p.Asp628=) c.1792C>T (n.1792C>T) n.2318C>T c.2142C>T (p.Asp714=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301929A= | CA1435772064 | WFS1 | c.2170A= (p.Ile724=) c.2111A= c.2134A= (p.Ile712=) c.1885A= (p.Ile629=) c.1793A= (n.1793A=) n.2319A= c.2143A= (p.Ile715=) | |
4 | g.6301929A>C | CA356177827 | WFS1 | c.2170A>C (p.Ile724Leu) c.2111A>C c.2134A>C (p.Ile712Leu) c.1885A>C (p.Ile629Leu) c.1793A>C (n.1793A>C) n.2319A>C c.2143A>C (p.Ile715Leu) | gnomAD v4 |
4 | g.6301929A>G | CA2839611 | WFS1 | c.2170A>G (p.Ile724Val) c.2111A>G c.2134A>G (p.Ile712Val) c.1885A>G (p.Ile629Val) c.1793A>G (n.1793A>G) n.2319A>G c.2143A>G (p.Ile715Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301929A>T | CA356177830 | WFS1 | c.2170A>T (p.Ile724Phe) c.2111A>T c.2134A>T (p.Ile712Phe) c.1885A>T (p.Ile629Phe) c.1793A>T (n.1793A>T) n.2319A>T c.2143A>T (p.Ile715Phe) | |
4 | g.6301930T>A | CA356177832 | WFS1 | c.2171T>A (p.Ile724Asn) c.2112T>A c.2135T>A (p.Ile712Asn) c.1886T>A (p.Ile629Asn) c.1794T>A (n.1794T>A) n.2320T>A c.2144T>A (p.Ile715Asn) | |
4 | g.6301930T>C | CA356177834 | WFS1 | c.2171T>C (p.Ile724Thr) c.2112T>C c.2135T>C (p.Ile712Thr) c.1886T>C (p.Ile629Thr) c.1794T>C (n.1794T>C) n.2320T>C c.2144T>C (p.Ile715Thr) | ClinVar dbSNP |
4 | g.6301930T>G | CA356177835 | WFS1 | c.2171T>G (p.Ile724Ser) c.2112T>G c.2135T>G (p.Ile712Ser) c.1886T>G (p.Ile629Ser) c.1794T>G (n.1794T>G) n.2320T>G c.2144T>G (p.Ile715Ser) | ClinVar |
4 | g.6301930T= | CA1435772065 | WFS1 | c.2171T= (p.Ile724=) c.2112T= c.2135T= (p.Ile712=) c.1886T= (p.Ile629=) c.1794T= (n.1794T=) n.2320T= c.2144T= (p.Ile715=) | |
4 | g.6301931C>A | CA2839613 | WFS1 | c.2172C>A (p.Ile724=) c.2113C>A c.2136C>A (p.Ile712=) c.1887C>A (p.Ile629=) c.1795C>A (n.1795C>A) n.2321C>A c.2145C>A (p.Ile715=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301931C= | CA1435772068 | WFS1 | c.2172C= (p.Ile724=) c.2113C= c.2136C= (p.Ile712=) c.1887C= (p.Ile629=) c.1795C= (n.1795C=) n.2321C= c.2145C= (p.Ile715=) | |
4 | g.6301931C>G | CA356177838 | WFS1 | c.2172C>G (p.Ile724Met) c.2113C>G c.2136C>G (p.Ile712Met) c.1887C>G (p.Ile629Met) c.1795C>G (n.1795C>G) n.2321C>G c.2145C>G (p.Ile715Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301931C>T | CA2839612 | WFS1 | c.2172C>T (p.Ile724=) c.2113C>T c.2136C>T (p.Ile712=) c.1887C>T (p.Ile629=) c.1795C>T (n.1795C>T) n.2321C>T c.2145C>T (p.Ile715=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301932_6301934del | CA2586973644 | WFS1 | c.2173_2175del (p.Asp725del) c.2114_2116del c.2137_2139del (p.Asp713del) c.1888_1890del (p.Asp630del) c.1796_1798del (n.1796_1798del) n.2322_2324del c.2146_2148del (p.Asp716del) | |
4 | g.6301932G>A | CA2839614 | WFS1 | c.2173G>A (p.Asp725Asn) c.2114G>A c.2137G>A (p.Asp713Asn) c.1888G>A (p.Asp630Asn) c.1796G>A (n.1796G>A) n.2322G>A c.2146G>A (p.Asp716Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301932G>C | CA356177841 | WFS1 | c.2173G>C (p.Asp725His) c.2114G>C c.2137G>C (p.Asp713His) c.1888G>C (p.Asp630His) c.1796G>C (n.1796G>C) n.2322G>C c.2146G>C (p.Asp716His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301932G= | CA1435772071 | WFS1 | c.2173G= (p.Asp725=) c.2114G= c.2137G= (p.Asp713=) c.1888G= (p.Asp630=) c.1796G= (n.1796G=) n.2322G= c.2146G= (p.Asp716=) | |
4 | g.6301932G>T | CA356177844 | WFS1 | c.2173G>T (p.Asp725Tyr) c.2114G>T c.2137G>T (p.Asp713Tyr) c.1888G>T (p.Asp630Tyr) c.1796G>T (n.1796G>T) n.2322G>T c.2146G>T (p.Asp716Tyr) | gnomAD v4 |
4 | g.6301932_6301956delinsGACAACAGCGCCGAGTCTGCCATCA | CA1435772070 | WFS1 | c.2173_2197delinsGACAACAGCGCCGAGTCTGCCATCA (p.Asp725=) c.2114_2138delinsGACAACAGCGCCGAGTCTGCCATCA c.2137_2161delinsGACAACAGCGCCGAGTCTGCCATCA (p.Asp713=) c.1888_1912delinsGACAACAGCGCCGAGTCTGCCATCA (p.Asp630=) c.1796_1820delinsGACAACAGCGCCGAGTCTGCCATCA (n.1796_1820delinsGACAACAGCGCCGAGTCTGCCATCA) n.2322_2346delinsGACAACAGCGCCGAGTCTGCCATCA c.2146_2170delinsGACAACAGCGCCGAGTCTGCCATCA (p.Asp716=) | |
4 | g.6301933A= | CA1435772074 | WFS1 | c.2174A= (p.Asp725=) c.2115A= c.2138A= (p.Asp713=) c.1889A= (p.Asp630=) c.1797A= (n.1797A=) n.2323A= c.2147A= (p.Asp716=) | |
4 | g.6301933A>C | CA356177847 | WFS1 | c.2174A>C (p.Asp725Ala) c.2115A>C c.2138A>C (p.Asp713Ala) c.1889A>C (p.Asp630Ala) c.1797A>C (n.1797A>C) n.2323A>C c.2147A>C (p.Asp716Ala) | |
4 | g.6301933A>G | CA2839616 | WFS1 | c.2174A>G (p.Asp725Gly) c.2115A>G c.2138A>G (p.Asp713Gly) c.1889A>G (p.Asp630Gly) c.1797A>G (n.1797A>G) n.2323A>G c.2147A>G (p.Asp716Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301933A>T | CA356177849 | WFS1 | c.2174A>T (p.Asp725Val) c.2115A>T c.2138A>T (p.Asp713Val) c.1889A>T (p.Asp630Val) c.1797A>T (n.1797A>T) n.2323A>T c.2147A>T (p.Asp716Val) | gnomAD v4 |
4 | g.6301936_6301959dup | CA549707912 | WFS1 | c.2177_2200dup (p.Asn733_Met734insAsnSerAlaGluSerAlaIleAsn) c.2118_2141dup c.2141_2164dup (p.Asn721_Met722insAsnSerAlaGluSerAlaIleAsn) c.1892_1915dup (p.Asn638_Met639insAsnSerAlaGluSerAlaIleAsn) c.1800_1823dup (n.1800_1823dup) n.2326_2349dup c.2150_2173dup (p.Asn724_Met725insAsnSerAlaGluSerAlaIleAsn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301936_6301959del | CA2839615 | WFS1 | c.2177_2200del (p.Asn726_Asn733del) c.2118_2141del c.2141_2164del (p.Asn714_Asn721del) c.1892_1915del (p.Asn631_Asn638del) c.1800_1823del (n.1800_1823del) n.2326_2349del c.2150_2173del (p.Asn717_Asn724del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301934C>A | CA356177852 | WFS1 | c.2175C>A (p.Asp725Glu) c.2116C>A c.2139C>A (p.Asp713Glu) c.1890C>A (p.Asp630Glu) c.1798C>A (n.1798C>A) n.2324C>A c.2148C>A (p.Asp716Glu) | |
4 | g.6301934C>G | CA356177853 | WFS1 | c.2175C>G (p.Asp725Glu) c.2116C>G c.2139C>G (p.Asp713Glu) c.1890C>G (p.Asp630Glu) c.1798C>G (n.1798C>G) n.2324C>G c.2148C>G (p.Asp716Glu) | |
4 | g.6301934C>T | CA438368591 | WFS1 | c.2175C>T (p.Asp725=) c.2116C>T c.2139C>T (p.Asp713=) c.1890C>T (p.Asp630=) c.1798C>T (n.1798C>T) n.2324C>T c.2148C>T (p.Asp716=) | gnomAD v4 |
4 | g.6301935A>C | CA356177859 | WFS1 | c.2176A>C (p.Asn726His) c.2117A>C c.2140A>C (p.Asn714His) c.1891A>C (p.Asn631His) c.1799A>C (n.1799A>C) n.2325A>C c.2149A>C (p.Asn717His) | |
4 | g.6301935A>G | CA356177855 | WFS1 | c.2176A>G (p.Asn726Asp) c.2117A>G c.2140A>G (p.Asn714Asp) c.1891A>G (p.Asn631Asp) c.1799A>G (n.1799A>G) n.2325A>G c.2149A>G (p.Asn717Asp) | ClinVar dbSNP |
4 | g.6301935A>T | CA356177857 | WFS1 | c.2176A>T (p.Asn726Tyr) c.2117A>T c.2140A>T (p.Asn714Tyr) c.1891A>T (p.Asn631Tyr) c.1799A>T (n.1799A>T) n.2325A>T c.2149A>T (p.Asn717Tyr) | |
4 | g.6301936A= | CA1435772076 | WFS1 | c.2177A= (p.Asn726=) c.2118A= c.2141A= (p.Asn714=) c.1892A= (p.Asn631=) c.1800A= (n.1800A=) n.2326A= c.2150A= (p.Asn717=) | |
4 | g.6301936A>C | CA261752 | WFS1 | c.2177A>C (p.Asn726Thr) c.2118A>C c.2141A>C (p.Asn714Thr) c.1892A>C (p.Asn631Thr) c.1800A>C (n.1800A>C) n.2326A>C c.2150A>C (p.Asn717Thr) | ClinVar dbSNP |
4 | g.6301936A>G | CA356177861 | WFS1 | c.2177A>G (p.Asn726Ser) c.2118A>G c.2141A>G (p.Asn714Ser) c.1892A>G (p.Asn631Ser) c.1800A>G (n.1800A>G) n.2326A>G c.2150A>G (p.Asn717Ser) | |
4 | g.6301936A>T | CA356177863 | WFS1 | c.2177A>T (p.Asn726Ile) c.2118A>T c.2141A>T (p.Asn714Ile) c.1892A>T (p.Asn631Ile) c.1800A>T (n.1800A>T) n.2326A>T c.2150A>T (p.Asn717Ile) | |
4 | g.6301937C>A | CA356177865 | WFS1 | c.2178C>A (p.Asn726Lys) c.2119C>A c.2142C>A (p.Asn714Lys) c.1893C>A (p.Asn631Lys) c.1801C>A (n.1801C>A) n.2327C>A c.2151C>A (p.Asn717Lys) | gnomAD v4 COSMIC |
4 | g.6301937C= | CA1435772078 | WFS1 | c.2178C= (p.Asn726=) c.2119C= c.2142C= (p.Asn714=) c.1893C= (p.Asn631=) c.1801C= (n.1801C=) n.2327C= c.2151C= (p.Asn717=) | |
4 | g.6301937C>G | CA356177866 | WFS1 | c.2178C>G (p.Asn726Lys) c.2119C>G c.2142C>G (p.Asn714Lys) c.1893C>G (p.Asn631Lys) c.1801C>G (n.1801C>G) n.2327C>G c.2151C>G (p.Asn717Lys) | ClinVar |
4 | g.6301937C>T | CA438368594 | WFS1 | c.2178C>T (p.Asn726=) c.2119C>T c.2142C>T (p.Asn714=) c.1893C>T (p.Asn631=) c.1801C>T (n.1801C>T) n.2327C>T c.2151C>T (p.Asn717=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301938A= | CA1435772080 | WFS1 | c.2179A= (p.Ser727=) c.2120A= c.2143A= (p.Ser715=) c.1894A= (p.Ser632=) c.1802A= (n.1802A=) n.2328A= c.2152A= (p.Ser718=) | |
4 | g.6301938A>C | CA356177870 | WFS1 | c.2179A>C (p.Ser727Arg) c.2120A>C c.2143A>C (p.Ser715Arg) c.1894A>C (p.Ser632Arg) c.1802A>C (n.1802A>C) n.2328A>C c.2152A>C (p.Ser718Arg) | |
4 | g.6301938A>G | CA2839617 | WFS1 | c.2179A>G (p.Ser727Gly) c.2120A>G c.2143A>G (p.Ser715Gly) c.1894A>G (p.Ser632Gly) c.1802A>G (n.1802A>G) n.2328A>G c.2152A>G (p.Ser718Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301938A>T | CA356177869 | WFS1 | c.2179A>T (p.Ser727Cys) c.2120A>T c.2143A>T (p.Ser715Cys) c.1894A>T (p.Ser632Cys) c.1802A>T (n.1802A>T) n.2328A>T c.2152A>T (p.Ser718Cys) | |
4 | g.6301939G>A | CA356177875 | WFS1 | c.2180G>A (p.Ser727Asn) c.2121G>A c.2144G>A (p.Ser715Asn) c.1895G>A (p.Ser632Asn) c.1803G>A (n.1803G>A) n.2329G>A c.2153G>A (p.Ser718Asn) | ClinVar |
4 | g.6301939G>C | CA356177876 | WFS1 | c.2180G>C (p.Ser727Thr) c.2121G>C c.2144G>C (p.Ser715Thr) c.1895G>C (p.Ser632Thr) c.1803G>C (n.1803G>C) n.2329G>C c.2153G>C (p.Ser718Thr) | |
4 | g.6301939G= | CA1435772082 | WFS1 | c.2180G= (p.Ser727=) c.2121G= c.2144G= (p.Ser715=) c.1895G= (p.Ser632=) c.1803G= (n.1803G=) n.2329G= c.2153G= (p.Ser718=) | |
4 | g.6301939G>T | CA2839618 | WFS1 | c.2180G>T (p.Ser727Ile) c.2121G>T c.2144G>T (p.Ser715Ile) c.1895G>T (p.Ser632Ile) c.1803G>T (n.1803G>T) n.2329G>T c.2153G>T (p.Ser718Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301939_6301942delinsGCGC | CA1435772083 | WFS1 | c.2180_2183delinsGCGC (p.Ser727=) c.2121_2124delinsGCGC c.2144_2147delinsGCGC (p.Ser715=) c.1895_1898delinsGCGC (p.Ser632=) c.1803_1806delinsGCGC (n.1803_1806delinsGCGC) n.2329_2332delinsGCGC c.2153_2156delinsGCGC (p.Ser718=) | |
4 | g.6301940C>A | CA356177879 | WFS1 | c.2181C>A (p.Ser727Arg) c.2122C>A c.2145C>A (p.Ser715Arg) c.1896C>A (p.Ser632Arg) c.1804C>A (n.1804C>A) n.2330C>A c.2154C>A (p.Ser718Arg) | |
4 | g.6301940C= | CA1435772087 | WFS1 | c.2181C= (p.Ser727=) c.2122C= c.2145C= (p.Ser715=) c.1896C= (p.Ser632=) c.1804C= (n.1804C=) n.2330C= c.2154C= (p.Ser718=) | |
4 | g.6301940C>G | CA2839620 | WFS1 | c.2181C>G (p.Ser727Arg) c.2122C>G c.2145C>G (p.Ser715Arg) c.1896C>G (p.Ser632Arg) c.1804C>G (n.1804C>G) n.2330C>G c.2154C>G (p.Ser718Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301940C>T | CA2839619 | WFS1 | c.2181C>T (p.Ser727=) c.2122C>T c.2145C>T (p.Ser715=) c.1896C>T (p.Ser632=) c.1804C>T (n.1804C>T) n.2330C>T c.2154C>T (p.Ser718=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301942_6301944del | CA1435772086 | WFS1 | c.2183_2185del (p.Ala728del) c.2124_2126del c.2147_2149del (p.Ala716del) c.1898_1900del (p.Ala633del) c.1806_1808del (n.1806_1808del) n.2332_2334del c.2156_2158del (p.Ala719del) | dbSNP |
4 | g.6301941G>A | CA253197 | WFS1 | c.2182G>A (p.Ala728Thr) c.2123G>A c.2146G>A (p.Ala716Thr) c.1897G>A (p.Ala633Thr) c.1805G>A (n.1805G>A) n.2331G>A c.2155G>A (p.Ala719Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301941G>C | CA356177886 | WFS1 | c.2182G>C (p.Ala728Pro) c.2123G>C c.2146G>C (p.Ala716Pro) c.1897G>C (p.Ala633Pro) c.1805G>C (n.1805G>C) n.2331G>C c.2155G>C (p.Ala719Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301941G= | CA1435772089 | WFS1 | c.2182G= (p.Ala728=) c.2123G= c.2146G= (p.Ala716=) c.1897G= (p.Ala633=) c.1805G= (n.1805G=) n.2331G= c.2155G= (p.Ala719=) | |
4 | g.6301941G>T | CA356177887 | WFS1 | c.2182G>T (p.Ala728Ser) c.2123G>T c.2146G>T (p.Ala716Ser) c.1897G>T (p.Ala633Ser) c.1805G>T (n.1805G>T) n.2331G>T c.2155G>T (p.Ala719Ser) | |
4 | g.6301942C>A | CA356177889 | WFS1 | c.2183C>A (p.Ala728Asp) c.2124C>A c.2147C>A (p.Ala716Asp) c.1898C>A (p.Ala633Asp) c.1806C>A (n.1806C>A) n.2332C>A c.2156C>A (p.Ala719Asp) | |
4 | g.6301942C= | CA1435772091 | WFS1 | c.2183C= (p.Ala728=) c.2124C= c.2147C= (p.Ala716=) c.1898C= (p.Ala633=) c.1806C= (n.1806C=) n.2332C= c.2156C= (p.Ala719=) | |
4 | g.6301942C>G | CA356177890 | WFS1 | c.2183C>G (p.Ala728Gly) c.2124C>G c.2147C>G (p.Ala716Gly) c.1898C>G (p.Ala633Gly) c.1806C>G (n.1806C>G) n.2332C>G c.2156C>G (p.Ala719Gly) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301942C>T | CA356177892 | WFS1 | c.2183C>T (p.Ala728Val) c.2124C>T c.2147C>T (p.Ala716Val) c.1898C>T (p.Ala633Val) c.1806C>T (n.1806C>T) n.2332C>T c.2156C>T (p.Ala719Val) | gnomAD v4 |
4 | g.6301943C>A | CA438368598 | WFS1 | c.2184C>A (p.Ala728=) c.2125C>A c.2148C>A (p.Ala716=) c.1899C>A (p.Ala633=) c.1807C>A (n.1807C>A) n.2333C>A c.2157C>A (p.Ala719=) | gnomAD v4 |
4 | g.6301943C= | CA1435772093 | WFS1 | c.2184C= (p.Ala728=) c.2125C= c.2148C= (p.Ala716=) c.1899C= (p.Ala633=) c.1807C= (n.1807C=) n.2333C= c.2157C= (p.Ala719=) | |
4 | g.6301943C>G | CA438368600 | WFS1 | c.2184C>G (p.Ala728=) c.2125C>G c.2148C>G (p.Ala716=) c.1899C>G (p.Ala633=) c.1807C>G (n.1807C>G) n.2333C>G c.2157C>G (p.Ala719=) | gnomAD v4 |
4 | g.6301943C>T | CA2839621 | WFS1 | c.2184C>T (p.Ala728=) c.2125C>T c.2148C>T (p.Ala716=) c.1899C>T (p.Ala633=) c.1807C>T (n.1807C>T) n.2333C>T c.2157C>T (p.Ala719=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6301944G>A | CA2839622 | WFS1 | c.2185G>A (p.Glu729Lys) c.2126G>A c.2149G>A (p.Glu717Lys) c.1900G>A (p.Glu634Lys) c.1808G>A (n.1808G>A) n.2334G>A c.2158G>A (p.Glu720Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301944G>C | CA356177897 | WFS1 | c.2185G>C (p.Glu729Gln) c.2126G>C c.2149G>C (p.Glu717Gln) c.1900G>C (p.Glu634Gln) c.1808G>C (n.1808G>C) n.2334G>C c.2158G>C (p.Glu720Gln) | COSMIC |
4 | g.6301944G= | CA1435772096 | WFS1 | c.2185G= (p.Glu729=) c.2126G= c.2149G= (p.Glu717=) c.1900G= (p.Glu634=) c.1808G= (n.1808G=) n.2334G= c.2158G= (p.Glu720=) | |
4 | g.6301944G>T | CA91796872 | WFS1 | c.2185G>T (p.Glu729Ter) c.2126G>T c.2149G>T (p.Glu717Ter) c.1900G>T (p.Glu634Ter) c.1808G>T (n.1808G>T) n.2334G>T c.2158G>T (p.Glu720Ter) | dbSNP |
4 | g.6301945A>C | CA356177899 | WFS1 | c.2186A>C (p.Glu729Ala) c.2127A>C c.2150A>C (p.Glu717Ala) c.1901A>C (p.Glu634Ala) c.1809A>C (n.1809A>C) n.2335A>C c.2159A>C (p.Glu720Ala) | |
4 | g.6301945A>G | CA356177901 | WFS1 | c.2186A>G (p.Glu729Gly) c.2127A>G c.2150A>G (p.Glu717Gly) c.1901A>G (p.Glu634Gly) c.1809A>G (n.1809A>G) n.2335A>G c.2159A>G (p.Glu720Gly) | dbSNP |
4 | g.6301945A>T | CA356177903 | WFS1 | c.2186A>T (p.Glu729Val) c.2127A>T c.2150A>T (p.Glu717Val) c.1901A>T (p.Glu634Val) c.1809A>T (n.1809A>T) n.2335A>T c.2159A>T (p.Glu720Val) | |
4 | g.6301945dup | CA2586973645 | WFS1 | c.2186dup (p.Ser730ValfsTer?) c.2127dup c.2150dup (p.Ser718ValfsTer?) c.1901dup (p.Ser635ValfsTer?) c.1809dup (n.1809dup) n.2335dup c.2159dup (p.Ser721ValfsTer?) | |
4 | g.6301946G>A | CA2839623 | WFS1 | c.2187G>A (p.Glu729=) c.2128G>A c.2151G>A (p.Glu717=) c.1902G>A (p.Glu634=) c.1810G>A (n.1810G>A) n.2336G>A c.2160G>A (p.Glu720=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301946G>C | CA356177906 | WFS1 | c.2187G>C (p.Glu729Asp) c.2128G>C c.2151G>C (p.Glu717Asp) c.1902G>C (p.Glu634Asp) c.1810G>C (n.1810G>C) n.2336G>C c.2160G>C (p.Glu720Asp) | |
4 | g.6301946G= | CA1435772098 | WFS1 | c.2187G= (p.Glu729=) c.2128G= c.2151G= (p.Glu717=) c.1902G= (p.Glu634=) c.1810G= (n.1810G=) n.2336G= c.2160G= (p.Glu720=) | |
4 | g.6301946G>T | CA356177908 | WFS1 | c.2187G>T (p.Glu729Asp) c.2128G>T c.2151G>T (p.Glu717Asp) c.1902G>T (p.Glu634Asp) c.1810G>T (n.1810G>T) n.2336G>T c.2160G>T (p.Glu720Asp) | |
4 | g.6301947T>A | CA356177910 | WFS1 | c.2188T>A (p.Ser730Thr) c.2129T>A c.2152T>A (p.Ser718Thr) c.1903T>A (p.Ser635Thr) c.1811T>A (n.1811T>A) n.2337T>A c.2161T>A (p.Ser721Thr) | |
4 | g.6301947T>C | CA356177912 | WFS1 | c.2188T>C (p.Ser730Pro) c.2129T>C c.2152T>C (p.Ser718Pro) c.1903T>C (p.Ser635Pro) c.1811T>C (n.1811T>C) n.2337T>C c.2161T>C (p.Ser721Pro) | |
4 | g.6301947T>G | CA356177914 | WFS1 | c.2188T>G (p.Ser730Ala) c.2129T>G c.2152T>G (p.Ser718Ala) c.1903T>G (p.Ser635Ala) c.1811T>G (n.1811T>G) n.2337T>G c.2161T>G (p.Ser721Ala) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301947T= | CA1435772099 | WFS1 | c.2188T= (p.Ser730=) c.2129T= c.2152T= (p.Ser718=) c.1903T= (p.Ser635=) c.1811T= (n.1811T=) n.2337T= c.2161T= (p.Ser721=) | |
4 | g.6301948C>A | CA356177916 | WFS1 | c.2189C>A (p.Ser730Tyr) c.2130C>A c.2153C>A (p.Ser718Tyr) c.1904C>A (p.Ser635Tyr) c.1812C>A (n.1812C>A) n.2338C>A c.2162C>A (p.Ser721Tyr) | |
4 | g.6301948C= | CA1435772101 | WFS1 | c.2189C= (p.Ser730=) c.2130C= c.2153C= (p.Ser718=) c.1904C= (p.Ser635=) c.1812C= (n.1812C=) n.2338C= c.2162C= (p.Ser721=) | |
4 | g.6301948C>G | CA356177917 | WFS1 | c.2189C>G (p.Ser730Cys) c.2130C>G c.2153C>G (p.Ser718Cys) c.1904C>G (p.Ser635Cys) c.1812C>G (n.1812C>G) n.2338C>G c.2162C>G (p.Ser721Cys) | |
4 | g.6301948C>T | CA356177922 | WFS1 | c.2189C>T (p.Ser730Phe) c.2130C>T c.2153C>T (p.Ser718Phe) c.1904C>T (p.Ser635Phe) c.1812C>T (n.1812C>T) n.2338C>T c.2162C>T (p.Ser721Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301950_6301963dup | CA2586973646 | WFS1 | c.2191_2204dup (p.Phe737SerfsTer?) c.2132_2145dup c.2155_2168dup (p.Phe725SerfsTer?) c.1906_1919dup (p.Phe642SerfsTer?) c.1814_1827dup (n.1814_1827dup) n.2340_2353dup c.2164_2177dup (p.Phe728SerfsTer?) | |
4 | g.6301949T>A | CA438368658 | WFS1 | c.2190T>A (p.Ser730=) c.2131T>A c.2154T>A (p.Ser718=) c.1905T>A (p.Ser635=) c.1813T>A (n.1813T>A) n.2339T>A c.2163T>A (p.Ser721=) | |
4 | g.6301949T>C | CA2839624 | WFS1 | c.2190T>C (p.Ser730=) c.2131T>C c.2154T>C (p.Ser718=) c.1905T>C (p.Ser635=) c.1813T>C (n.1813T>C) n.2339T>C c.2163T>C (p.Ser721=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301949T>G | CA438368660 | WFS1 | c.2190T>G (p.Ser730=) c.2131T>G c.2154T>G (p.Ser718=) c.1905T>G (p.Ser635=) c.1813T>G (n.1813T>G) n.2339T>G c.2163T>G (p.Ser721=) | dbSNP gnomAD v4 |
4 | g.6301949T= | CA1435772103 | WFS1 | c.2190T= (p.Ser730=) c.2131T= c.2154T= (p.Ser718=) c.1905T= (p.Ser635=) c.1813T= (n.1813T=) n.2339T= c.2163T= (p.Ser721=) | |
4 | g.6301950G>A | CA356177926 | WFS1 | c.2191G>A (p.Ala731Thr) c.2132G>A c.2155G>A (p.Ala719Thr) c.1906G>A (p.Ala636Thr) c.1814G>A (n.1814G>A) n.2340G>A c.2164G>A (p.Ala722Thr) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301950G>C | CA356177928 | WFS1 | c.2191G>C (p.Ala731Pro) c.2132G>C c.2155G>C (p.Ala719Pro) c.1906G>C (p.Ala636Pro) c.1814G>C (n.1814G>C) n.2340G>C c.2164G>C (p.Ala722Pro) | |
4 | g.6301950G= | CA1435772104 | WFS1 | c.2191G= (p.Ala731=) c.2132G= c.2155G= (p.Ala719=) c.1906G= (p.Ala636=) c.1814G= (n.1814G=) n.2340G= c.2164G= (p.Ala722=) | |
4 | g.6301950G>T | CA356177927 | WFS1 | c.2191G>T (p.Ala731Ser) c.2132G>T c.2155G>T (p.Ala719Ser) c.1906G>T (p.Ala636Ser) c.1814G>T (n.1814G>T) n.2340G>T c.2164G>T (p.Ala722Ser) | |
4 | g.6301951C>A | CA356177929 | WFS1 | c.2192C>A (p.Ala731Asp) c.2133C>A c.2156C>A (p.Ala719Asp) c.1907C>A (p.Ala636Asp) c.1815C>A (n.1815C>A) n.2341C>A c.2165C>A (p.Ala722Asp) | |
4 | g.6301951C= | CA1435772106 | WFS1 | c.2192C= (p.Ala731=) c.2133C= c.2156C= (p.Ala719=) c.1907C= (p.Ala636=) c.1815C= (n.1815C=) n.2341C= c.2165C= (p.Ala722=) | |
4 | g.6301951C>G | CA356177930 | WFS1 | c.2192C>G (p.Ala731Gly) c.2133C>G c.2156C>G (p.Ala719Gly) c.1907C>G (p.Ala636Gly) c.1815C>G (n.1815C>G) n.2341C>G c.2165C>G (p.Ala722Gly) | |
4 | g.6301951C>T | CA2839625 | WFS1 | c.2192C>T (p.Ala731Val) c.2133C>T c.2156C>T (p.Ala719Val) c.1907C>T (p.Ala636Val) c.1815C>T (n.1815C>T) n.2341C>T c.2165C>T (p.Ala722Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301952C>A | CA438368661 | WFS1 | c.2193C>A (p.Ala731=) c.2134C>A c.2157C>A (p.Ala719=) c.1908C>A (p.Ala636=) c.1816C>A (n.1816C>A) n.2342C>A c.2166C>A (p.Ala722=) | |
4 | g.6301952C= | CA1435772107 | WFS1 | c.2193C= (p.Ala731=) c.2134C= c.2157C= (p.Ala719=) c.1908C= (p.Ala636=) c.1816C= (n.1816C=) n.2342C= c.2166C= (p.Ala722=) | |
4 | g.6301952C>G | CA2839626 | WFS1 | c.2193C>G (p.Ala731=) c.2134C>G c.2157C>G (p.Ala719=) c.1908C>G (p.Ala636=) c.1816C>G (n.1816C>G) n.2342C>G c.2166C>G (p.Ala722=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301952C>T | CA10621440 | WFS1 | c.2193C>T (p.Ala731=) c.2134C>T c.2157C>T (p.Ala719=) c.1908C>T (p.Ala636=) c.1816C>T (n.1816C>T) n.2342C>T c.2166C>T (p.Ala722=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301953A= | CA1435772110 | WFS1 | c.2194A= (p.Ile732=) c.2135A= c.2158A= (p.Ile720=) c.1909A= (p.Ile637=) c.1817A= (n.1817A=) n.2343A= c.2167A= (p.Ile723=) | |
4 | g.6301953A>C | CA2839627 | WFS1 | c.2194A>C (p.Ile732Leu) c.2135A>C c.2158A>C (p.Ile720Leu) c.1909A>C (p.Ile637Leu) c.1817A>C (n.1817A>C) n.2343A>C c.2167A>C (p.Ile723Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301953A>G | CA295580 | WFS1 | c.2194A>G (p.Ile732Val) c.2135A>G c.2158A>G (p.Ile720Val) c.1909A>G (p.Ile637Val) c.1817A>G (n.1817A>G) n.2343A>G c.2167A>G (p.Ile723Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301953A>T | CA356177931 | WFS1 | c.2194A>T (p.Ile732Phe) c.2135A>T c.2158A>T (p.Ile720Phe) c.1909A>T (p.Ile637Phe) c.1817A>T (n.1817A>T) n.2343A>T c.2167A>T (p.Ile723Phe) |