| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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.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) |