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.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.6301626del | CA2841725570 | WFS1 | c.1867del (p.Arg623AlafsTer14) c.1808del c.1831del (p.Arg611AlafsTer14) c.1582del (p.Arg528AlafsTer14) c.1490del (n.1490del) n.2016del c.1840del (p.Arg614AlafsTer14) | |
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=) | |
4 | g.6301667G>A | CA438368539 | WFS1 | c.1908G>A (p.Val636=) c.1849G>A c.1872G>A (p.Val624=) c.1623G>A (p.Val541=) c.1531G>A (n.1531G>A) n.2057G>A c.1881G>A (p.Val627=) | ClinVar |
4 | g.6301667G>C | CA438368540 | WFS1 | c.1908G>C (p.Val636=) c.1849G>C c.1872G>C (p.Val624=) c.1623G>C (p.Val541=) c.1531G>C (n.1531G>C) n.2057G>C c.1881G>C (p.Val627=) | |
4 | g.6301667G>T | CA438368542 | WFS1 | c.1908G>T (p.Val636=) c.1849G>T c.1872G>T (p.Val624=) c.1623G>T (p.Val541=) c.1531G>T (n.1531G>T) n.2057G>T c.1881G>T (p.Val627=) | gnomAD v4 |
4 | g.6301668A>C | CA356177013 | WFS1 | c.1909A>C (p.Lys637Gln) c.1850A>C c.1873A>C (p.Lys625Gln) c.1624A>C (p.Lys542Gln) c.1532A>C (n.1532A>C) n.2058A>C c.1882A>C (p.Lys628Gln) | gnomAD v4 |
4 | g.6301668A>G | CA356177014 | WFS1 | c.1909A>G (p.Lys637Glu) c.1850A>G c.1873A>G (p.Lys625Glu) c.1624A>G (p.Lys542Glu) c.1532A>G (n.1532A>G) n.2058A>G c.1882A>G (p.Lys628Glu) | |
4 | g.6301668A>T | CA356177015 | WFS1 | c.1909A>T (p.Lys637Ter) c.1850A>T c.1873A>T (p.Lys625Ter) c.1624A>T (p.Lys542Ter) c.1532A>T (n.1532A>T) n.2058A>T c.1882A>T (p.Lys628Ter) | |
4 | g.6301669A>C | CA356177018 | WFS1 | c.1910A>C (p.Lys637Thr) c.1851A>C c.1874A>C (p.Lys625Thr) c.1625A>C (p.Lys542Thr) c.1533A>C (n.1533A>C) n.2059A>C c.1883A>C (p.Lys628Thr) | |
4 | g.6301669A>G | CA356177017 | WFS1 | c.1910A>G (p.Lys637Arg) c.1851A>G c.1874A>G (p.Lys625Arg) c.1625A>G (p.Lys542Arg) c.1533A>G (n.1533A>G) n.2059A>G c.1883A>G (p.Lys628Arg) | |
4 | g.6301669A>T | CA356177016 | WFS1 | c.1910A>T (p.Lys637Met) c.1851A>T c.1874A>T (p.Lys625Met) c.1625A>T (p.Lys542Met) c.1533A>T (n.1533A>T) n.2059A>T c.1883A>T (p.Lys628Met) | |
4 | g.6301670G>A | CA438368544 | WFS1 | c.1911G>A (p.Lys637=) c.1852G>A c.1875G>A (p.Lys625=) c.1626G>A (p.Lys542=) c.1534G>A (n.1534G>A) n.2060G>A c.1884G>A (p.Lys628=) | ClinVar |
4 | g.6301670G>C | CA356177019 | WFS1 | c.1911G>C (p.Lys637Asn) c.1852G>C c.1875G>C (p.Lys625Asn) c.1626G>C (p.Lys542Asn) c.1534G>C (n.1534G>C) n.2060G>C c.1884G>C (p.Lys628Asn) | |
4 | g.6301670G>T | CA356177020 | WFS1 | c.1911G>T (p.Lys637Asn) c.1852G>T c.1875G>T (p.Lys625Asn) c.1626G>T (p.Lys542Asn) c.1534G>T (n.1534G>T) n.2060G>T c.1884G>T (p.Lys628Asn) | |
4 | g.6301671T>A | CA356177021 | WFS1 | c.1912T>A (p.Ser638Thr) c.1853T>A c.1876T>A (p.Ser626Thr) c.1627T>A (p.Ser543Thr) c.1535T>A (n.1535T>A) n.2061T>A c.1885T>A (p.Ser629Thr) | |
4 | g.6301671T>C | CA356177023 | WFS1 | c.1912T>C (p.Ser638Pro) c.1853T>C c.1876T>C (p.Ser626Pro) c.1627T>C (p.Ser543Pro) c.1535T>C (n.1535T>C) n.2061T>C c.1885T>C (p.Ser629Pro) | |
4 | g.6301671T>G | CA356177022 | WFS1 | c.1912T>G (p.Ser638Ala) c.1853T>G c.1876T>G (p.Ser626Ala) c.1627T>G (p.Ser543Ala) c.1535T>G (n.1535T>G) n.2061T>G c.1885T>G (p.Ser629Ala) | dbSNP |
4 | g.6301671T= | CA1435771623 | WFS1 | c.1912T= (p.Ser638=) c.1853T= c.1876T= (p.Ser626=) c.1627T= (p.Ser543=) c.1535T= (n.1535T=) n.2061T= c.1885T= (p.Ser629=) | |
4 | g.6301672C>A | CA356177024 | WFS1 | c.1913C>A (p.Ser638Tyr) c.1854C>A c.1877C>A (p.Ser626Tyr) c.1628C>A (p.Ser543Tyr) c.1536C>A (n.1536C>A) n.2062C>A c.1886C>A (p.Ser629Tyr) | |
4 | g.6301672C= | CA1435771627 | WFS1 | c.1913C= (p.Ser638=) c.1854C= c.1877C= (p.Ser626=) c.1628C= (p.Ser543=) c.1536C= (n.1536C=) n.2062C= c.1886C= (p.Ser629=) | |
4 | g.6301672C>G | CA356177025 | WFS1 | c.1913C>G (p.Ser638Cys) c.1854C>G c.1877C>G (p.Ser626Cys) c.1628C>G (p.Ser543Cys) c.1536C>G (n.1536C>G) n.2062C>G c.1886C>G (p.Ser629Cys) | |
4 | g.6301672C>T | CA2839530 | WFS1 | c.1913C>T (p.Ser638Phe) c.1854C>T c.1877C>T (p.Ser626Phe) c.1628C>T (p.Ser543Phe) c.1536C>T (n.1536C>T) n.2062C>T c.1886C>T (p.Ser629Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301673C>A | CA438368545 | WFS1 | c.1914C>A (p.Ser638=) c.1855C>A c.1878C>A (p.Ser626=) c.1629C>A (p.Ser543=) c.1537C>A (n.1537C>A) n.2063C>A c.1887C>A (p.Ser629=) | gnomAD v4 |
4 | g.6301673C>G | CA438368548 | WFS1 | c.1914C>G (p.Ser638=) c.1855C>G c.1878C>G (p.Ser626=) c.1629C>G (p.Ser543=) c.1537C>G (n.1537C>G) n.2063C>G c.1887C>G (p.Ser629=) | |
4 | g.6301673C>T | CA438368546 | WFS1 | c.1914C>T (p.Ser638=) c.1855C>T c.1878C>T (p.Ser626=) c.1629C>T (p.Ser543=) c.1537C>T (n.1537C>T) n.2063C>T c.1887C>T (p.Ser629=) | ClinVar dbSNP gnomAD v4 |
4 | g.6301674C>A | CA356177026 | WFS1 | c.1915C>A (p.Leu639Met) c.1856C>A c.1879C>A (p.Leu627Met) c.1630C>A (p.Leu544Met) c.1538C>A (n.1538C>A) n.2064C>A c.1888C>A (p.Leu630Met) | |
4 | g.6301674C= | CA1435771633 | WFS1 | c.1915C= (p.Leu639=) c.1856C= c.1879C= (p.Leu627=) c.1630C= (p.Leu544=) c.1538C= (n.1538C=) n.2064C= c.1888C= (p.Leu630=) | |
4 | g.6301674C>G | CA2839531 | WFS1 | c.1915C>G (p.Leu639Val) c.1856C>G c.1879C>G (p.Leu627Val) c.1630C>G (p.Leu544Val) c.1538C>G (n.1538C>G) n.2064C>G c.1888C>G (p.Leu630Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301674C>T | CA438368549 | WFS1 | c.1915C>T (p.Leu639=) c.1856C>T c.1879C>T (p.Leu627=) c.1630C>T (p.Leu544=) c.1538C>T (n.1538C>T) n.2064C>T c.1888C>T (p.Leu630=) | ClinVar dbSNP |
4 | g.6301675T>A | CA356177027 | WFS1 | c.1916T>A (p.Leu639Gln) c.1857T>A c.1880T>A (p.Leu627Gln) c.1631T>A (p.Leu544Gln) c.1539T>A (n.1539T>A) n.2065T>A c.1889T>A (p.Leu630Gln) | |
4 | g.6301675T>C | CA356177028 | WFS1 | c.1916T>C (p.Leu639Pro) c.1857T>C c.1880T>C (p.Leu627Pro) c.1631T>C (p.Leu544Pro) c.1539T>C (n.1539T>C) n.2065T>C c.1889T>C (p.Leu630Pro) | |
4 | g.6301675T>G | CA356177029 | WFS1 | c.1916T>G (p.Leu639Arg) c.1857T>G c.1880T>G (p.Leu627Arg) c.1631T>G (p.Leu544Arg) c.1539T>G (n.1539T>G) n.2065T>G c.1889T>G (p.Leu630Arg) | |
4 | g.6301676G>A | CA438368553 | WFS1 | c.1917G>A (p.Leu639=) c.1858G>A c.1881G>A (p.Leu627=) c.1632G>A (p.Leu544=) c.1540G>A (n.1540G>A) n.2066G>A c.1890G>A (p.Leu630=) | |
4 | g.6301676G>C | CA438368557 | WFS1 | c.1917G>C (p.Leu639=) c.1858G>C c.1881G>C (p.Leu627=) c.1632G>C (p.Leu544=) c.1540G>C (n.1540G>C) n.2066G>C c.1890G>C (p.Leu630=) | |
4 | g.6301676G>T | CA438368560 | WFS1 | c.1917G>T (p.Leu639=) c.1858G>T c.1881G>T (p.Leu627=) c.1632G>T (p.Leu544=) c.1540G>T (n.1540G>T) n.2066G>T c.1890G>T (p.Leu630=) | |
4 | g.6301677A>C | CA356177030 | WFS1 | c.1918A>C (p.Thr640Pro) c.1859A>C c.1882A>C (p.Thr628Pro) c.1633A>C (p.Thr545Pro) c.1541A>C (n.1541A>C) n.2067A>C c.1891A>C (p.Thr631Pro) | gnomAD v4 |
4 | g.6301677A>G | CA356177031 | WFS1 | c.1918A>G (p.Thr640Ala) c.1859A>G c.1882A>G (p.Thr628Ala) c.1633A>G (p.Thr545Ala) c.1541A>G (n.1541A>G) n.2067A>G c.1891A>G (p.Thr631Ala) | |
4 | g.6301677A>T | CA356177032 | WFS1 | c.1918A>T (p.Thr640Ser) c.1859A>T c.1882A>T (p.Thr628Ser) c.1633A>T (p.Thr545Ser) c.1541A>T (n.1541A>T) n.2067A>T c.1891A>T (p.Thr631Ser) | |
4 | g.6301678C>A | CA356177033 | WFS1 | c.1919C>A (p.Thr640Lys) c.1860C>A c.1883C>A (p.Thr628Lys) c.1634C>A (p.Thr545Lys) c.1542C>A (n.1542C>A) n.2068C>A c.1892C>A (p.Thr631Lys) | gnomAD v4 |
4 | g.6301678C= | CA1435771636 | WFS1 | c.1919C= (p.Thr640=) c.1860C= c.1883C= (p.Thr628=) c.1634C= (p.Thr545=) c.1542C= (n.1542C=) n.2068C= c.1892C= (p.Thr631=) | |
4 | g.6301678C>G | CA2839532 | WFS1 | c.1919C>G (p.Thr640Arg) c.1860C>G c.1883C>G (p.Thr628Arg) c.1634C>G (p.Thr545Arg) c.1542C>G (n.1542C>G) n.2068C>G c.1892C>G (p.Thr631Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301678C>T | CA2839533 | WFS1 | c.1919C>T (p.Thr640Met) c.1860C>T c.1883C>T (p.Thr628Met) c.1634C>T (p.Thr545Met) c.1542C>T (n.1542C>T) n.2068C>T c.1892C>T (p.Thr631Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301679G>A | CA2839534 | WFS1 | c.1920G>A (p.Thr640=) c.1861G>A c.1884G>A (p.Thr628=) c.1635G>A (p.Thr545=) c.1543G>A (n.1543G>A) n.2069G>A c.1893G>A (p.Thr631=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6301679G>C | CA438368563 | WFS1 | c.1920G>C (p.Thr640=) c.1861G>C c.1884G>C (p.Thr628=) c.1635G>C (p.Thr545=) c.1543G>C (n.1543G>C) n.2069G>C c.1893G>C (p.Thr631=) | |
4 | g.6301679G= | CA1435771639 | WFS1 | c.1920G= (p.Thr640=) c.1861G= c.1884G= (p.Thr628=) c.1635G= (p.Thr545=) c.1543G= (n.1543G=) n.2069G= c.1893G= (p.Thr631=) | |
4 | g.6301679G>T | CA91796666 | WFS1 | c.1920G>T (p.Thr640=) c.1861G>T c.1884G>T (p.Thr628=) c.1635G>T (p.Thr545=) c.1543G>T (n.1543G>T) n.2069G>T c.1893G>T (p.Thr631=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301680C>A | CA438368565 | WFS1 | c.1921C>A (p.Arg641=) c.1862C>A c.1885C>A (p.Arg629=) c.1636C>A (p.Arg546=) c.1544C>A (n.1544C>A) n.2070C>A c.1894C>A (p.Arg632=) | |
4 | g.6301680C= | CA1435771642 | WFS1 | c.1921C= (p.Arg641=) c.1862C= c.1885C= (p.Arg629=) c.1636C= (p.Arg546=) c.1544C= (n.1544C=) n.2070C= c.1894C= (p.Arg632=) | |
4 | g.6301680C>G | CA356177034 | WFS1 | c.1921C>G (p.Arg641Gly) c.1862C>G c.1885C>G (p.Arg629Gly) c.1636C>G (p.Arg546Gly) c.1544C>G (n.1544C>G) n.2070C>G c.1894C>G (p.Arg632Gly) | |
4 | g.6301680C>T | CA2839535 | WFS1 | c.1921C>T (p.Arg641Trp) c.1862C>T c.1885C>T (p.Arg629Trp) c.1636C>T (p.Arg546Trp) c.1544C>T (n.1544C>T) n.2070C>T c.1894C>T (p.Arg632Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301680_6301681insT | CA2669843456 | WFS1 | c.1921_1922insT (p.Arg641LeufsTer?) c.1862_1863insT c.1885_1886insT (p.Arg629LeufsTer?) c.1636_1637insT (p.Arg546LeufsTer?) c.1544_1545insT (n.1544_1545insT) n.2070_2071insT c.1894_1895insT (p.Arg632LeufsTer?) | gnomAD v4 |
4 | g.6301681G>A | CA261748 | WFS1 | c.1922G>A (p.Arg641Gln) c.1863G>A c.1886G>A (p.Arg629Gln) c.1637G>A (p.Arg546Gln) c.1545G>A (n.1545G>A) n.2071G>A c.1895G>A (p.Arg632Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301681G>C | CA356177035 | WFS1 | c.1922G>C (p.Arg641Pro) c.1863G>C c.1886G>C (p.Arg629Pro) c.1637G>C (p.Arg546Pro) c.1545G>C (n.1545G>C) n.2071G>C c.1895G>C (p.Arg632Pro) | |
4 | g.6301681G= | CA1435771649 | WFS1 | c.1922G= (p.Arg641=) c.1863G= c.1886G= (p.Arg629=) c.1637G= (p.Arg546=) c.1545G= (n.1545G=) n.2071G= c.1895G= (p.Arg632=) | |
4 | g.6301681G>T | CA356177036 | WFS1 | c.1922G>T (p.Arg641Leu) c.1863G>T c.1886G>T (p.Arg629Leu) c.1637G>T (p.Arg546Leu) c.1545G>T (n.1545G>T) n.2071G>T c.1895G>T (p.Arg632Leu) | |
4 | g.6301682G>A | CA438368571 | WFS1 | c.1923G>A (p.Arg641=) c.1864G>A c.1887G>A (p.Arg629=) c.1638G>A (p.Arg546=) c.1546G>A (n.1546G>A) n.2072G>A c.1896G>A (p.Arg632=) | gnomAD v4 |
4 | g.6301682G>C | CA438368570 | WFS1 | c.1923G>C (p.Arg641=) c.1864G>C c.1887G>C (p.Arg629=) c.1638G>C (p.Arg546=) c.1546G>C (n.1546G>C) n.2072G>C c.1896G>C (p.Arg632=) | gnomAD v4 |
4 | g.6301682G>T | CA438368567 | WFS1 | c.1923G>T (p.Arg641=) c.1864G>T c.1887G>T (p.Arg629=) c.1638G>T (p.Arg546=) c.1546G>T (n.1546G>T) n.2072G>T c.1896G>T (p.Arg632=) | gnomAD v4 |
4 | g.6301683A>C | CA356177037 | WFS1 | c.1924A>C (p.Ser642Arg) c.1865A>C c.1888A>C (p.Ser630Arg) c.1639A>C (p.Ser547Arg) c.1547A>C (n.1547A>C) n.2073A>C c.1897A>C (p.Ser633Arg) | |
4 | g.6301683A>G | CA356177038 | WFS1 | c.1924A>G (p.Ser642Gly) c.1865A>G c.1888A>G (p.Ser630Gly) c.1639A>G (p.Ser547Gly) c.1547A>G (n.1547A>G) n.2073A>G c.1897A>G (p.Ser633Gly) | |
4 | g.6301683A>T | CA356177039 | WFS1 | c.1924A>T (p.Ser642Cys) c.1865A>T c.1888A>T (p.Ser630Cys) c.1639A>T (p.Ser547Cys) c.1547A>T (n.1547A>T) n.2073A>T c.1897A>T (p.Ser633Cys) | gnomAD v4 |
4 | g.6301683_6301685del | CA2669843457 | WFS1 | c.1924_1926del (p.Ser642del) c.1865_1867del c.1888_1890del (p.Ser630del) c.1639_1641del (p.Ser547del) c.1547_1549del (n.1547_1549del) n.2073_2075del c.1897_1899del (p.Ser633del) | gnomAD v4 |
4 | g.6301684G>A | CA356177040 | WFS1 | c.1925G>A (p.Ser642Asn) c.1866G>A c.1889G>A (p.Ser630Asn) c.1640G>A (p.Ser547Asn) c.1548G>A (n.1548G>A) n.2074G>A c.1898G>A (p.Ser633Asn) | |
4 | g.6301684G>C | CA356177041 | WFS1 | c.1925G>C (p.Ser642Thr) c.1866G>C c.1889G>C (p.Ser630Thr) c.1640G>C (p.Ser547Thr) c.1548G>C (n.1548G>C) n.2074G>C c.1898G>C (p.Ser633Thr) | |
4 | g.6301684G>T | CA356177042 | WFS1 | c.1925G>T (p.Ser642Ile) c.1866G>T c.1889G>T (p.Ser630Ile) c.1640G>T (p.Ser547Ile) c.1548G>T (n.1548G>T) n.2074G>T c.1898G>T (p.Ser633Ile) | |
4 | g.6301685C>A | CA356177043 | WFS1 | c.1926C>A (p.Ser642Arg) c.1867C>A c.1890C>A (p.Ser630Arg) c.1641C>A (p.Ser547Arg) c.1549C>A (n.1549C>A) n.2075C>A c.1899C>A (p.Ser633Arg) | |
4 | g.6301685C>G | CA356177044 | WFS1 | c.1926C>G (p.Ser642Arg) c.1867C>G c.1890C>G (p.Ser630Arg) c.1641C>G (p.Ser547Arg) c.1549C>G (n.1549C>G) n.2075C>G c.1899C>G (p.Ser633Arg) | |
4 | g.6301685C>T | CA438368579 | WFS1 | c.1926C>T (p.Ser642=) c.1867C>T c.1890C>T (p.Ser630=) c.1641C>T (p.Ser547=) c.1549C>T (n.1549C>T) n.2075C>T c.1899C>T (p.Ser633=) | gnomAD v4 |
4 | g.6301686T>A | CA356177047 | WFS1 | c.1927T>A (p.Ser643Thr) c.1868T>A c.1891T>A (p.Ser631Thr) c.1642T>A (p.Ser548Thr) c.1550T>A (n.1550T>A) n.2076T>A c.1900T>A (p.Ser634Thr) | |
4 | g.6301686T>C | CA356177045 | WFS1 | c.1927T>C (p.Ser643Pro) c.1868T>C c.1891T>C (p.Ser631Pro) c.1642T>C (p.Ser548Pro) c.1550T>C (n.1550T>C) n.2076T>C c.1900T>C (p.Ser634Pro) | |
4 | g.6301686T>G | CA356177046 | WFS1 | c.1927T>G (p.Ser643Ala) c.1868T>G c.1891T>G (p.Ser631Ala) c.1642T>G (p.Ser548Ala) c.1550T>G (n.1550T>G) n.2076T>G c.1900T>G (p.Ser634Ala) | |
4 | g.6301687C>A | CA356177048 | WFS1 | c.1928C>A (p.Ser643Tyr) c.1869C>A c.1892C>A (p.Ser631Tyr) c.1643C>A (p.Ser548Tyr) c.1551C>A (n.1551C>A) n.2077C>A c.1901C>A (p.Ser634Tyr) | |
4 | g.6301687C>G | CA356177049 | WFS1 | c.1928C>G (p.Ser643Cys) c.1869C>G c.1892C>G (p.Ser631Cys) c.1643C>G (p.Ser548Cys) c.1551C>G (n.1551C>G) n.2077C>G c.1901C>G (p.Ser634Cys) | ClinVar gnomAD v4 |
4 | g.6301687C>T | CA356177050 | WFS1 | c.1928C>T (p.Ser643Phe) c.1869C>T c.1892C>T (p.Ser631Phe) c.1643C>T (p.Ser548Phe) c.1551C>T (n.1551C>T) n.2077C>T c.1901C>T (p.Ser634Phe) | |
4 | g.6301688C>A | CA438368634 | WFS1 | c.1929C>A (p.Ser643=) c.1870C>A c.1893C>A (p.Ser631=) c.1644C>A (p.Ser548=) c.1552C>A (n.1552C>A) n.2078C>A c.1902C>A (p.Ser634=) | ClinVar dbSNP |
4 | g.6301688C= | CA1435771651 | WFS1 | c.1929C= (p.Ser643=) c.1870C= c.1893C= (p.Ser631=) c.1644C= (p.Ser548=) c.1552C= (n.1552C=) n.2078C= c.1902C= (p.Ser634=) | |
4 | g.6301688C>G | CA438368635 | WFS1 | c.1929C>G (p.Ser643=) c.1870C>G c.1893C>G (p.Ser631=) c.1644C>G (p.Ser548=) c.1552C>G (n.1552C>G) n.2078C>G c.1902C>G (p.Ser634=) | |
4 | g.6301688C>T | CA2839536 | WFS1 | c.1929C>T (p.Ser643=) c.1870C>T c.1893C>T (p.Ser631=) c.1644C>T (p.Ser548=) c.1552C>T (n.1552C>T) n.2078C>T c.1902C>T (p.Ser634=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301689A= | CA1435771656 | WFS1 | c.1930A= (p.Met644=) c.1871A= c.1894A= (p.Met632=) c.1645A= (p.Met549=) c.1553A= (n.1553A=) n.2079A= c.1903A= (p.Met635=) | |
4 | g.6301689A>C | CA356177051 | WFS1 | c.1930A>C (p.Met644Leu) c.1871A>C c.1894A>C (p.Met632Leu) c.1645A>C (p.Met549Leu) c.1553A>C (n.1553A>C) n.2079A>C c.1903A>C (p.Met635Leu) | |
4 | g.6301689A>G | CA356177052 | WFS1 | c.1930A>G (p.Met644Val) c.1871A>G c.1894A>G (p.Met632Val) c.1645A>G (p.Met549Val) c.1553A>G (n.1553A>G) n.2079A>G c.1903A>G (p.Met635Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301689A>T | CA356177053 | WFS1 | c.1930A>T (p.Met644Leu) c.1871A>T c.1894A>T (p.Met632Leu) c.1645A>T (p.Met549Leu) c.1553A>T (n.1553A>T) n.2079A>T c.1903A>T (p.Met635Leu) | |
4 | g.6301690T>A | CA356177054 | WFS1 | c.1931T>A (p.Met644Lys) c.1872T>A c.1895T>A (p.Met632Lys) c.1646T>A (p.Met549Lys) c.1554T>A (n.1554T>A) n.2080T>A c.1904T>A (p.Met635Lys) | |
4 | g.6301690T>C | CA356177055 | WFS1 | c.1931T>C (p.Met644Thr) c.1872T>C c.1895T>C (p.Met632Thr) c.1646T>C (p.Met549Thr) c.1554T>C (n.1554T>C) n.2080T>C c.1904T>C (p.Met635Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301690T>G | CA356177056 | WFS1 | c.1931T>G (p.Met644Arg) c.1872T>G c.1895T>G (p.Met632Arg) c.1646T>G (p.Met549Arg) c.1554T>G (n.1554T>G) n.2080T>G c.1904T>G (p.Met635Arg) | |
4 | g.6301690T= | CA1435771658 | WFS1 | c.1931T= (p.Met644=) c.1872T= c.1895T= (p.Met632=) c.1646T= (p.Met549=) c.1554T= (n.1554T=) n.2080T= c.1904T= (p.Met635=) | |
4 | g.6301691G>A | CA356177057 | WFS1 | c.1932G>A (p.Met644Ile) c.1873G>A c.1896G>A (p.Met632Ile) c.1647G>A (p.Met549Ile) c.1555G>A (n.1555G>A) n.2081G>A c.1905G>A (p.Met635Ile) | ClinVar dbSNP |
4 | g.6301691G>C | CA356177058 | WFS1 | c.1932G>C (p.Met644Ile) c.1873G>C c.1896G>C (p.Met632Ile) c.1647G>C (p.Met549Ile) c.1555G>C (n.1555G>C) n.2081G>C c.1905G>C (p.Met635Ile) | dbSNP |
4 | g.6301691G= | CA1435771663 | WFS1 | c.1932G= (p.Met644=) c.1873G= c.1896G= (p.Met632=) c.1647G= (p.Met549=) c.1555G= (n.1555G=) n.2081G= c.1905G= (p.Met635=) | |
4 | g.6301691G>T | CA16609253 | WFS1 | c.1932G>T (p.Met644Ile) c.1873G>T c.1896G>T (p.Met632Ile) c.1647G>T (p.Met549Ile) c.1555G>T (n.1555G>T) n.2081G>T c.1905G>T (p.Met635Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301692G>A | CA356177061 | WFS1 | c.1933G>A (p.Val645Ile) c.1874G>A c.1897G>A (p.Val633Ile) c.1648G>A (p.Val550Ile) c.1556G>A (n.1556G>A) n.2082G>A c.1906G>A (p.Val636Ile) | |
4 | g.6301692G>C | CA356177059 | WFS1 | c.1933G>C (p.Val645Leu) c.1874G>C c.1897G>C (p.Val633Leu) c.1648G>C (p.Val550Leu) c.1556G>C (n.1556G>C) n.2082G>C c.1906G>C (p.Val636Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301692G= | CA1435771668 | WFS1 | c.1933G= (p.Val645=) c.1874G= c.1897G= (p.Val633=) c.1648G= (p.Val550=) c.1556G= (n.1556G=) n.2082G= c.1906G= (p.Val636=) | |
4 | g.6301692G>T | CA356177060 | WFS1 | c.1933G>T (p.Val645Phe) c.1874G>T c.1897G>T (p.Val633Phe) c.1648G>T (p.Val550Phe) c.1556G>T (n.1556G>T) n.2082G>T c.1906G>T (p.Val636Phe) | |
4 | g.6301693T>A | CA356177062 | WFS1 | c.1934T>A (p.Val645Asp) c.1875T>A c.1898T>A (p.Val633Asp) c.1649T>A (p.Val550Asp) c.1557T>A (n.1557T>A) n.2083T>A c.1907T>A (p.Val636Asp) | |
4 | g.6301693T>C | CA356177063 | WFS1 | c.1934T>C (p.Val645Ala) c.1875T>C c.1898T>C (p.Val633Ala) c.1649T>C (p.Val550Ala) c.1557T>C (n.1557T>C) n.2083T>C c.1907T>C (p.Val636Ala) | |
4 | g.6301693T>G | CA356177064 | WFS1 | c.1934T>G (p.Val645Gly) c.1875T>G c.1898T>G (p.Val633Gly) c.1649T>G (p.Val550Gly) c.1557T>G (n.1557T>G) n.2083T>G c.1907T>G (p.Val636Gly) | |
4 | g.6301694C>A | CA438368640 | WFS1 | c.1935C>A (p.Val645=) c.1876C>A c.1899C>A (p.Val633=) c.1650C>A (p.Val550=) c.1558C>A (n.1558C>A) n.2084C>A c.1908C>A (p.Val636=) | |
4 | g.6301694C= | CA1435771670 | WFS1 | c.1935C= (p.Val645=) c.1876C= c.1899C= (p.Val633=) c.1650C= (p.Val550=) c.1558C= (n.1558C=) n.2084C= c.1908C= (p.Val636=) | |
4 | g.6301694C>G | CA438368641 | WFS1 | c.1935C>G (p.Val645=) c.1876C>G c.1899C>G (p.Val633=) c.1650C>G (p.Val550=) c.1558C>G (n.1558C>G) n.2084C>G c.1908C>G (p.Val636=) | |
4 | g.6301694C>T | CA2839537 | WFS1 | c.1935C>T (p.Val645=) c.1876C>T c.1899C>T (p.Val633=) c.1650C>T (p.Val550=) c.1558C>T (n.1558C>T) n.2084C>T c.1908C>T (p.Val636=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301695A= | CA1435771674 | WFS1 | c.1936A= (p.Lys646=) c.1877A= c.1900A= (p.Lys634=) c.1651A= (p.Lys551=) c.1559A= (n.1559A=) n.2085A= c.1909A= (p.Lys637=) | |
4 | g.6301695A>C | CA2839538 | WFS1 | c.1936A>C (p.Lys646Gln) c.1877A>C c.1900A>C (p.Lys634Gln) c.1651A>C (p.Lys551Gln) c.1559A>C (n.1559A>C) n.2085A>C c.1909A>C (p.Lys637Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301695A>G | CA356177065 | WFS1 | c.1936A>G (p.Lys646Glu) c.1877A>G c.1900A>G (p.Lys634Glu) c.1651A>G (p.Lys551Glu) c.1559A>G (n.1559A>G) n.2085A>G c.1909A>G (p.Lys637Glu) | |
4 | g.6301695A>T | CA356177066 | WFS1 | c.1936A>T (p.Lys646Ter) c.1877A>T c.1900A>T (p.Lys634Ter) c.1651A>T (p.Lys551Ter) c.1559A>T (n.1559A>T) n.2085A>T c.1909A>T (p.Lys637Ter) | |
4 | g.6301696A= | CA1435771680 | WFS1 | c.1937A= (p.Lys646=) c.1878A= c.1901A= (p.Lys634=) c.1652A= (p.Lys551=) c.1560A= (n.1560A=) n.2086A= c.1910A= (p.Lys637=) | |
4 | g.6301696A>C | CA253205 | WFS1 | c.1937A>C (p.Lys646Thr) c.1878A>C c.1901A>C (p.Lys634Thr) c.1652A>C (p.Lys551Thr) c.1560A>C (n.1560A>C) n.2086A>C c.1910A>C (p.Lys637Thr) | ClinVar dbSNP gnomAD v4 |
4 | g.6301696A>G | CA2839539 | WFS1 | c.1937A>G (p.Lys646Arg) c.1878A>G c.1901A>G (p.Lys634Arg) c.1652A>G (p.Lys551Arg) c.1560A>G (n.1560A>G) n.2086A>G c.1910A>G (p.Lys637Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301696A>T | CA356177067 | WFS1 | c.1937A>T (p.Lys646Met) c.1878A>T c.1901A>T (p.Lys634Met) c.1652A>T (p.Lys551Met) c.1560A>T (n.1560A>T) n.2086A>T c.1910A>T (p.Lys637Met) | |
4 | g.6301697G>A | CA438368642 | WFS1 | c.1938G>A (p.Lys646=) c.1879G>A c.1902G>A (p.Lys634=) c.1653G>A (p.Lys551=) c.1561G>A (n.1561G>A) n.2087G>A c.1911G>A (p.Lys637=) | dbSNP gnomAD v4 |
4 | g.6301697G>C | CA356177068 | WFS1 | c.1938G>C (p.Lys646Asn) c.1879G>C c.1902G>C (p.Lys634Asn) c.1653G>C (p.Lys551Asn) c.1561G>C (n.1561G>C) n.2087G>C c.1911G>C (p.Lys637Asn) | |
4 | g.6301697G= | CA1435771684 | WFS1 | c.1938G= (p.Lys646=) c.1879G= c.1902G= (p.Lys634=) c.1653G= (p.Lys551=) c.1561G= (n.1561G=) n.2087G= c.1911G= (p.Lys637=) | |
4 | g.6301697G>T | CA2839540 | WFS1 | c.1938G>T (p.Lys646Asn) c.1879G>T c.1902G>T (p.Lys634Asn) c.1653G>T (p.Lys551Asn) c.1561G>T (n.1561G>T) n.2087G>T c.1911G>T (p.Lys637Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301698C>A | CA356177069 | WFS1 | c.1939C>A (p.Leu647Ile) c.1880C>A c.1903C>A (p.Leu635Ile) c.1654C>A (p.Leu552Ile) c.1562C>A (n.1562C>A) n.2088C>A c.1912C>A (p.Leu638Ile) | |
4 | g.6301698C= | CA1435771689 | WFS1 | c.1939C= (p.Leu647=) c.1880C= c.1903C= (p.Leu635=) c.1654C= (p.Leu552=) c.1562C= (n.1562C=) n.2088C= c.1912C= (p.Leu638=) | |
4 | g.6301698C>G | CA2839541 | WFS1 | c.1939C>G (p.Leu647Val) c.1880C>G c.1903C>G (p.Leu635Val) c.1654C>G (p.Leu552Val) c.1562C>G (n.1562C>G) n.2088C>G c.1912C>G (p.Leu638Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301698C>T | CA356177070 | WFS1 | c.1939C>T (p.Leu647Phe) c.1880C>T c.1903C>T (p.Leu635Phe) c.1654C>T (p.Leu552Phe) c.1562C>T (n.1562C>T) n.2088C>T c.1912C>T (p.Leu638Phe) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301699T>A | CA356177071 | WFS1 | c.1940T>A (p.Leu647His) c.1881T>A c.1904T>A (p.Leu635His) c.1655T>A (p.Leu552His) c.1563T>A (n.1563T>A) n.2089T>A c.1913T>A (p.Leu638His) | gnomAD v4 |
4 | g.6301699T>C | CA356177073 | WFS1 | c.1940T>C (p.Leu647Pro) c.1881T>C c.1904T>C (p.Leu635Pro) c.1655T>C (p.Leu552Pro) c.1563T>C (n.1563T>C) n.2089T>C c.1913T>C (p.Leu638Pro) | |
4 | g.6301699T>G | CA356177072 | WFS1 | c.1940T>G (p.Leu647Arg) c.1881T>G c.1904T>G (p.Leu635Arg) c.1655T>G (p.Leu552Arg) c.1563T>G (n.1563T>G) n.2089T>G c.1913T>G (p.Leu638Arg) | |
4 | g.6301699_6301702dup | CA549707913 | WFS1 | c.1940_1943dup (p.Leu649HisfsTer?) c.1881_1884dup c.1904_1907dup (p.Leu637HisfsTer?) c.1655_1658dup (p.Leu554HisfsTer?) c.1563_1566dup (n.1563_1566dup) n.2089_2092dup c.1913_1916dup (p.Leu640HisfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301700C>A | CA438368646 | WFS1 | c.1941C>A (p.Leu647=) c.1882C>A c.1905C>A (p.Leu635=) c.1656C>A (p.Leu552=) c.1564C>A (n.1564C>A) n.2090C>A c.1914C>A (p.Leu638=) | |
4 | g.6301700C>G | CA438368647 | WFS1 | c.1941C>G (p.Leu647=) c.1882C>G c.1905C>G (p.Leu635=) c.1656C>G (p.Leu552=) c.1564C>G (n.1564C>G) n.2090C>G c.1914C>G (p.Leu638=) | |
4 | g.6301700C>T | CA438368648 | WFS1 | c.1941C>T (p.Leu647=) c.1882C>T c.1905C>T (p.Leu635=) c.1656C>T (p.Leu552=) c.1564C>T (n.1564C>T) n.2090C>T c.1914C>T (p.Leu638=) | gnomAD v4 |
4 | g.6301701A>C | CA356177074 | WFS1 | c.1942A>C (p.Ile648Leu) c.1883A>C c.1906A>C (p.Ile636Leu) c.1657A>C (p.Ile553Leu) c.1565A>C (n.1565A>C) n.2091A>C c.1915A>C (p.Ile639Leu) | |
4 | g.6301701A>G | CA356177075 | WFS1 | c.1942A>G (p.Ile648Val) c.1883A>G c.1906A>G (p.Ile636Val) c.1657A>G (p.Ile553Val) c.1565A>G (n.1565A>G) n.2091A>G c.1915A>G (p.Ile639Val) | |
4 | g.6301701A>T | CA356177076 | WFS1 | c.1942A>T (p.Ile648Phe) c.1883A>T c.1906A>T (p.Ile636Phe) c.1657A>T (p.Ile553Phe) c.1565A>T (n.1565A>T) n.2091A>T c.1915A>T (p.Ile639Phe) | |
4 | g.6301702T>A | CA356177077 | WFS1 | c.1943T>A (p.Ile648Asn) c.1884T>A c.1907T>A (p.Ile636Asn) c.1658T>A (p.Ile553Asn) c.1566T>A (n.1566T>A) n.2092T>A c.1916T>A (p.Ile639Asn) | |
4 | g.6301702T>C | CA356177078 | WFS1 | c.1943T>C (p.Ile648Thr) c.1884T>C c.1907T>C (p.Ile636Thr) c.1658T>C (p.Ile553Thr) c.1566T>C (n.1566T>C) n.2092T>C c.1916T>C (p.Ile639Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301702T>G | CA356177079 | WFS1 | c.1943T>G (p.Ile648Ser) c.1884T>G c.1907T>G (p.Ile636Ser) c.1658T>G (p.Ile553Ser) c.1566T>G (n.1566T>G) n.2092T>G c.1916T>G (p.Ile639Ser) | gnomAD v4 |
4 | g.6301702T= | CA1435771691 | WFS1 | c.1943T= (p.Ile648=) c.1884T= c.1907T= (p.Ile636=) c.1658T= (p.Ile553=) c.1566T= (n.1566T=) n.2092T= c.1916T= (p.Ile639=) | |
4 | g.6301703C>A | CA438368649 | WFS1 | c.1944C>A (p.Ile648=) c.1885C>A c.1908C>A (p.Ile636=) c.1659C>A (p.Ile553=) c.1567C>A (n.1567C>A) n.2093C>A c.1917C>A (p.Ile639=) | |
4 | g.6301703C= | CA1435771695 | WFS1 | c.1944C= (p.Ile648=) c.1885C= c.1908C= (p.Ile636=) c.1659C= (p.Ile553=) c.1567C= (n.1567C=) n.2093C= c.1917C= (p.Ile639=) | |
4 | g.6301703C>G | CA2839542 | WFS1 | c.1944C>G (p.Ile648Met) c.1885C>G c.1908C>G (p.Ile636Met) c.1659C>G (p.Ile553Met) c.1567C>G (n.1567C>G) n.2093C>G c.1917C>G (p.Ile639Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301703C>T | CA2839543 | WFS1 | c.1944C>T (p.Ile648=) c.1885C>T c.1908C>T (p.Ile636=) c.1659C>T (p.Ile553=) c.1567C>T (n.1567C>T) n.2093C>T c.1917C>T (p.Ile639=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301703_6301727delinsCCTGGTGTGGCTCACGGCCATCGTG | CA1435771693 | WFS1 | c.1944_1968delinsCCTGGTGTGGCTCACGGCCATCGTG (p.Ile648=) c.1885_1909delinsCCTGGTGTGGCTCACGGCCATCGTG c.1908_1932delinsCCTGGTGTGGCTCACGGCCATCGTG (p.Ile636=) c.1659_1683delinsCCTGGTGTGGCTCACGGCCATCGTG (p.Ile553=) c.1567_1591delinsCCTGGTGTGGCTCACGGCCATCGTG (n.1567_1591delinsCCTGGTGTGGCTCACGGCCATCGTG) n.2093_2117delinsCCTGGTGTGGCTCACGGCCATCGTG c.1917_1941delinsCCTGGTGTGGCTCACGGCCATCGTG (p.Ile639=) | |
4 | g.6301704C>A | CA356177080 | WFS1 | c.1945C>A (p.Leu649Met) c.1886C>A c.1909C>A (p.Leu637Met) c.1660C>A (p.Leu554Met) c.1568C>A (n.1568C>A) n.2094C>A c.1918C>A (p.Leu640Met) | |
4 | g.6301704C= | CA1435771697 | WFS1 | c.1945C= (p.Leu649=) c.1886C= c.1909C= (p.Leu637=) c.1660C= (p.Leu554=) c.1568C= (n.1568C=) n.2094C= c.1918C= (p.Leu640=) | |
4 | g.6301704C>G | CA356177081 | WFS1 | c.1945C>G (p.Leu649Val) c.1886C>G c.1909C>G (p.Leu637Val) c.1660C>G (p.Leu554Val) c.1568C>G (n.1568C>G) n.2094C>G c.1918C>G (p.Leu640Val) | gnomAD v4 |
4 | g.6301704C>T | CA438368650 | WFS1 | c.1945C>T (p.Leu649=) c.1886C>T c.1909C>T (p.Leu637=) c.1660C>T (p.Leu554=) c.1568C>T (n.1568C>T) n.2094C>T c.1918C>T (p.Leu640=) | dbSNP |
4 | g.6301707_6301730del | CA1435771696 | WFS1 | c.1948_1971del (p.Val650_Leu657del) c.1889_1912del c.1912_1935del (p.Val638_Leu645del) c.1663_1686del (p.Val555_Leu562del) c.1571_1594del (n.1571_1594del) n.2097_2120del c.1921_1944del (p.Val641_Leu648del) | dbSNP |
4 | g.6301705T>A | CA356177082 | WFS1 | c.1946T>A (p.Leu649Gln) c.1887T>A c.1910T>A (p.Leu637Gln) c.1661T>A (p.Leu554Gln) c.1569T>A (n.1569T>A) n.2095T>A c.1919T>A (p.Leu640Gln) | |
4 | g.6301705T>C | CA356177083 | WFS1 | c.1946T>C (p.Leu649Pro) c.1887T>C c.1910T>C (p.Leu637Pro) c.1661T>C (p.Leu554Pro) c.1569T>C (n.1569T>C) n.2095T>C c.1919T>C (p.Leu640Pro) | ClinVar dbSNP |
4 | g.6301705T>G | CA356177084 | WFS1 | c.1946T>G (p.Leu649Arg) c.1887T>G c.1910T>G (p.Leu637Arg) c.1661T>G (p.Leu554Arg) c.1569T>G (n.1569T>G) n.2095T>G c.1919T>G (p.Leu640Arg) | gnomAD v4 |
4 | g.6301706G>A | CA438368651 | WFS1 | c.1947G>A (p.Leu649=) c.1888G>A c.1911G>A (p.Leu637=) c.1662G>A (p.Leu554=) c.1570G>A (n.1570G>A) n.2096G>A c.1920G>A (p.Leu640=) | gnomAD v4 |
4 | g.6301706G>C | CA438368652 | WFS1 | c.1947G>C (p.Leu649=) c.1888G>C c.1911G>C (p.Leu637=) c.1662G>C (p.Leu554=) c.1570G>C (n.1570G>C) n.2096G>C c.1920G>C (p.Leu640=) | |
4 | g.6301706G= | CA1435771699 | WFS1 | c.1947G= (p.Leu649=) c.1888G= c.1911G= (p.Leu637=) c.1662G= (p.Leu554=) c.1570G= (n.1570G=) n.2096G= c.1920G= (p.Leu640=) | |
4 | g.6301706G>T | CA438368653 | WFS1 | c.1947G>T (p.Leu649=) c.1888G>T c.1911G>T (p.Leu637=) c.1662G>T (p.Leu554=) c.1570G>T (n.1570G>T) n.2096G>T c.1920G>T (p.Leu640=) | dbSNP gnomAD v4 |
4 | g.6301707del | CA645523670 | WFS1 | c.1948del (p.Val650CysfsTer20) c.1889del c.1912del (p.Val638CysfsTer20) c.1663del (p.Val555CysfsTer20) c.1571del (n.1571del) n.2097del c.1921del (p.Val641CysfsTer20) | COSMIC |
4 | g.6301707G>A | CA356177085 | WFS1 | c.1948G>A (p.Val650Met) c.1889G>A c.1912G>A (p.Val638Met) c.1663G>A (p.Val555Met) c.1571G>A (n.1571G>A) n.2097G>A c.1921G>A (p.Val641Met) | gnomAD v4 |
4 | g.6301707G>C | CA356177087 | WFS1 | c.1948G>C (p.Val650Leu) c.1889G>C c.1912G>C (p.Val638Leu) c.1663G>C (p.Val555Leu) c.1571G>C (n.1571G>C) n.2097G>C c.1921G>C (p.Val641Leu) | gnomAD v4 |
4 | g.6301707G>T | CA356177086 | WFS1 | c.1948G>T (p.Val650Leu) c.1889G>T c.1912G>T (p.Val638Leu) c.1663G>T (p.Val555Leu) c.1571G>T (n.1571G>T) n.2097G>T c.1921G>T (p.Val641Leu) | |
4 | g.6301708T>A | CA356177088 | WFS1 | c.1949T>A (p.Val650Glu) c.1890T>A c.1913T>A (p.Val638Glu) c.1664T>A (p.Val555Glu) c.1572T>A (n.1572T>A) n.2098T>A c.1922T>A (p.Val641Glu) | |
4 | g.6301708T>C | CA356177089 | WFS1 | c.1949T>C (p.Val650Ala) c.1890T>C c.1913T>C (p.Val638Ala) c.1664T>C (p.Val555Ala) c.1572T>C (n.1572T>C) n.2098T>C c.1922T>C (p.Val641Ala) | |
4 | g.6301708T>G | CA356177090 | WFS1 | c.1949T>G (p.Val650Gly) c.1890T>G c.1913T>G (p.Val638Gly) c.1664T>G (p.Val555Gly) c.1572T>G (n.1572T>G) n.2098T>G c.1922T>G (p.Val641Gly) | gnomAD v4 |
4 | g.6301709G>A | CA438368654 | WFS1 | c.1950G>A (p.Val650=) c.1891G>A c.1914G>A (p.Val638=) c.1665G>A (p.Val555=) c.1573G>A (n.1573G>A) n.2099G>A c.1923G>A (p.Val641=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301709G>C | CA438368655 | WFS1 | c.1950G>C (p.Val650=) c.1891G>C c.1914G>C (p.Val638=) c.1665G>C (p.Val555=) c.1573G>C (n.1573G>C) n.2099G>C c.1923G>C (p.Val641=) | |
4 | g.6301709G= | CA1435771700 | WFS1 | c.1950G= (p.Val650=) c.1891G= c.1914G= (p.Val638=) c.1665G= (p.Val555=) c.1573G= (n.1573G=) n.2099G= c.1923G= (p.Val641=) | |
4 | g.6301709G>T | CA438368656 | WFS1 | c.1950G>T (p.Val650=) c.1891G>T c.1914G>T (p.Val638=) c.1665G>T (p.Val555=) c.1573G>T (n.1573G>T) n.2099G>T c.1923G>T (p.Val641=) | |
4 | g.6301710T>A | CA356177091 | WFS1 | c.1951T>A (p.Trp651Arg) c.1892T>A c.1915T>A (p.Trp639Arg) c.1666T>A (p.Trp556Arg) c.1574T>A (n.1574T>A) n.2100T>A c.1924T>A (p.Trp642Arg) | |
4 | g.6301710T>C | CA356177092 | WFS1 | c.1951T>C (p.Trp651Arg) c.1892T>C c.1915T>C (p.Trp639Arg) c.1666T>C (p.Trp556Arg) c.1574T>C (n.1574T>C) n.2100T>C c.1924T>C (p.Trp642Arg) | |
4 | g.6301710T>G | CA356177093 | WFS1 | c.1951T>G (p.Trp651Gly) c.1892T>G c.1915T>G (p.Trp639Gly) c.1666T>G (p.Trp556Gly) c.1574T>G (n.1574T>G) n.2100T>G c.1924T>G (p.Trp642Gly) | gnomAD v4 |
4 | g.6301711G>A | CA356177094 | WFS1 | c.1952G>A (p.Trp651Ter) c.1893G>A c.1916G>A (p.Trp639Ter) c.1667G>A (p.Trp556Ter) c.1575G>A (n.1575G>A) n.2101G>A c.1925G>A (p.Trp642Ter) | gnomAD v4 |
4 | g.6301711G>C | CA356177095 | WFS1 | c.1952G>C (p.Trp651Ser) c.1893G>C c.1916G>C (p.Trp639Ser) c.1667G>C (p.Trp556Ser) c.1575G>C (n.1575G>C) n.2101G>C c.1925G>C (p.Trp642Ser) | |
4 | g.6301711G>T | CA356177096 | WFS1 | c.1952G>T (p.Trp651Leu) c.1893G>T c.1916G>T (p.Trp639Leu) c.1667G>T (p.Trp556Leu) c.1575G>T (n.1575G>T) n.2101G>T c.1925G>T (p.Trp642Leu) | |
4 | g.6301712G>A | CA356177099 | WFS1 | c.1953G>A (p.Trp651Ter) c.1894G>A c.1917G>A (p.Trp639Ter) c.1668G>A (p.Trp556Ter) c.1576G>A (n.1576G>A) n.2102G>A c.1926G>A (p.Trp642Ter) | ClinVar |
4 | g.6301712G>C | CA356177098 | WFS1 | c.1953G>C (p.Trp651Cys) c.1894G>C c.1917G>C (p.Trp639Cys) c.1668G>C (p.Trp556Cys) c.1576G>C (n.1576G>C) n.2102G>C c.1926G>C (p.Trp642Cys) | |
4 | g.6301712G>T | CA356177097 | WFS1 | c.1953G>T (p.Trp651Cys) c.1894G>T c.1917G>T (p.Trp639Cys) c.1668G>T (p.Trp556Cys) c.1576G>T (n.1576G>T) n.2102G>T c.1926G>T (p.Trp642Cys) | |
4 | g.6301713C>A | CA356177100 | WFS1 | c.1954C>A (p.Leu652Ile) c.1895C>A c.1918C>A (p.Leu640Ile) c.1669C>A (p.Leu557Ile) c.1577C>A (n.1577C>A) n.2103C>A c.1927C>A (p.Leu643Ile) | |
4 | g.6301713C= | CA1435771701 | WFS1 | c.1954C= (p.Leu652=) c.1895C= c.1918C= (p.Leu640=) c.1669C= (p.Leu557=) c.1577C= (n.1577C=) n.2103C= c.1927C= (p.Leu643=) | |
4 | g.6301713C>G | CA91796680 | WFS1 | c.1954C>G (p.Leu652Val) c.1895C>G c.1918C>G (p.Leu640Val) c.1669C>G (p.Leu557Val) c.1577C>G (n.1577C>G) n.2103C>G c.1927C>G (p.Leu643Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301713C>T | CA356177101 | WFS1 | c.1954C>T (p.Leu652Phe) c.1895C>T c.1918C>T (p.Leu640Phe) c.1669C>T (p.Leu557Phe) c.1577C>T (n.1577C>T) n.2103C>T c.1927C>T (p.Leu643Phe) | dbSNP gnomAD v4 |
4 | g.6301714_6301724del | CA2586973639 | WFS1 | c.1955_1965del (p.Leu652ArgfsTer?) c.1896_1906del c.1919_1929del (p.Leu640ArgfsTer?) c.1670_1680del (p.Leu557ArgfsTer?) c.1578_1588del (n.1578_1588del) n.2104_2114del c.1928_1938del (p.Leu643ArgfsTer?) | |
4 | g.6301714T>A | CA356177102 | WFS1 | c.1955T>A (p.Leu652His) c.1896T>A c.1919T>A (p.Leu640His) c.1670T>A (p.Leu557His) c.1578T>A (n.1578T>A) n.2104T>A c.1928T>A (p.Leu643His) | |
4 | g.6301714T>C | CA356177103 | WFS1 | c.1955T>C (p.Leu652Pro) c.1896T>C c.1919T>C (p.Leu640Pro) c.1670T>C (p.Leu557Pro) c.1578T>C (n.1578T>C) n.2104T>C c.1928T>C (p.Leu643Pro) | |
4 | g.6301714T>G | CA356177104 | WFS1 | c.1955T>G (p.Leu652Arg) c.1896T>G c.1919T>G (p.Leu640Arg) c.1670T>G (p.Leu557Arg) c.1578T>G (n.1578T>G) n.2104T>G c.1928T>G (p.Leu643Arg) | |
4 | g.6301714_6301723del | CA2586973640 | WFS1 | c.1955_1964del (p.Leu652ProfsTer15) c.1896_1905del c.1919_1928del (p.Leu640ProfsTer15) c.1670_1679del (p.Leu557ProfsTer15) c.1578_1587del (n.1578_1587del) n.2104_2113del c.1928_1937del (p.Leu643ProfsTer15) | |
4 | g.6301715C>A | CA438368662 | WFS1 | c.1956C>A (p.Leu652=) c.1897C>A c.1920C>A (p.Leu640=) c.1671C>A (p.Leu557=) c.1579C>A (n.1579C>A) n.2105C>A c.1929C>A (p.Leu643=) | |
4 | g.6301715C= | CA1435771704 | WFS1 | c.1956C= (p.Leu652=) c.1897C= c.1920C= (p.Leu640=) c.1671C= (p.Leu557=) c.1579C= (n.1579C=) n.2105C= c.1929C= (p.Leu643=) | |
4 | g.6301715C>G | CA2839544 | WFS1 | c.1956C>G (p.Leu652=) c.1897C>G c.1920C>G (p.Leu640=) c.1671C>G (p.Leu557=) c.1579C>G (n.1579C>G) n.2105C>G c.1929C>G (p.Leu643=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301715C>T | CA438368663 | WFS1 | c.1956C>T (p.Leu652=) c.1897C>T c.1920C>T (p.Leu640=) c.1671C>T (p.Leu557=) c.1579C>T (n.1579C>T) n.2105C>T c.1929C>T (p.Leu643=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301716A= | CA1435771708 | WFS1 | c.1957A= (p.Thr653=) c.1898A= c.1921A= (p.Thr641=) c.1672A= (p.Thr558=) c.1580A= (n.1580A=) n.2106A= c.1930A= (p.Thr644=) | |
4 | g.6301716A>C | CA2839545 | WFS1 | c.1957A>C (p.Thr653Pro) c.1898A>C c.1921A>C (p.Thr641Pro) c.1672A>C (p.Thr558Pro) c.1580A>C (n.1580A>C) n.2106A>C c.1930A>C (p.Thr644Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301716A>G | CA356177105 | WFS1 | c.1957A>G (p.Thr653Ala) c.1898A>G c.1921A>G (p.Thr641Ala) c.1672A>G (p.Thr558Ala) c.1580A>G (n.1580A>G) n.2106A>G c.1930A>G (p.Thr644Ala) | |
4 | g.6301716A>T | CA356177106 | WFS1 | c.1957A>T (p.Thr653Ser) c.1898A>T c.1921A>T (p.Thr641Ser) c.1672A>T (p.Thr558Ser) c.1580A>T (n.1580A>T) n.2106A>T c.1930A>T (p.Thr644Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301716dup | CA549707915 | WFS1 | c.1957dup (p.Thr653AsnfsTer?) c.1898dup c.1921dup (p.Thr641AsnfsTer?) c.1672dup (p.Thr558AsnfsTer?) c.1580dup (n.1580dup) n.2106dup c.1930dup (p.Thr644AsnfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301716_6301718dup | CA1435771707 | WFS1 | c.1957_1959dup (p.Thr653_Ala654insThr) c.1898_1900dup c.1921_1923dup (p.Thr641_Ala642insThr) c.1672_1674dup (p.Thr558_Ala559insThr) c.1580_1582dup (n.1580_1582dup) n.2106_2108dup c.1930_1932dup (p.Thr644_Ala645insThr) | dbSNP gnomAD v4 |
4 | g.6301717C>A | CA179659 | WFS1 | c.1958C>A (p.Thr653Lys) c.1899C>A c.1922C>A (p.Thr641Lys) c.1673C>A (p.Thr558Lys) c.1581C>A (n.1581C>A) n.2107C>A c.1931C>A (p.Thr644Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301717C= | CA1435771713 | WFS1 | c.1958C= (p.Thr653=) c.1899C= c.1922C= (p.Thr641=) c.1673C= (p.Thr558=) c.1581C= (n.1581C=) n.2107C= c.1931C= (p.Thr644=) | |
4 | g.6301717C>G | CA356177107 | WFS1 | c.1958C>G (p.Thr653Arg) c.1899C>G c.1922C>G (p.Thr641Arg) c.1673C>G (p.Thr558Arg) c.1581C>G (n.1581C>G) n.2107C>G c.1931C>G (p.Thr644Arg) | |
4 | g.6301717C>T | CA2839546 | WFS1 | c.1958C>T (p.Thr653Met) c.1899C>T c.1922C>T (p.Thr641Met) c.1673C>T (p.Thr558Met) c.1581C>T (n.1581C>T) n.2107C>T c.1931C>T (p.Thr644Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301718G>A | CA2839547 | WFS1 | c.1959G>A (p.Thr653=) c.1900G>A c.1923G>A (p.Thr641=) c.1674G>A (p.Thr558=) c.1582G>A (n.1582G>A) n.2108G>A c.1932G>A (p.Thr644=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6301718G>C | CA438368666 | WFS1 | c.1959G>C (p.Thr653=) c.1900G>C c.1923G>C (p.Thr641=) c.1674G>C (p.Thr558=) c.1582G>C (n.1582G>C) n.2108G>C c.1932G>C (p.Thr644=) | |
4 | g.6301718G= | CA1435771718 | WFS1 | c.1959G= (p.Thr653=) c.1900G= c.1923G= (p.Thr641=) c.1674G= (p.Thr558=) c.1582G= (n.1582G=) n.2108G= c.1932G= (p.Thr644=) | |
4 | g.6301718G>T | CA438368667 | WFS1 | c.1959G>T (p.Thr653=) c.1900G>T c.1923G>T (p.Thr641=) c.1674G>T (p.Thr558=) c.1582G>T (n.1582G>T) n.2108G>T c.1932G>T (p.Thr644=) | gnomAD v4 |
4 | g.6301719G>A | CA356177108 | WFS1 | c.1960G>A (p.Ala654Thr) c.1901G>A c.1924G>A (p.Ala642Thr) c.1675G>A (p.Ala559Thr) c.1583G>A (n.1583G>A) n.2109G>A c.1933G>A (p.Ala645Thr) | gnomAD v4 |
4 | g.6301719G>C | CA356177109 | WFS1 | c.1960G>C (p.Ala654Pro) c.1901G>C c.1924G>C (p.Ala642Pro) c.1675G>C (p.Ala559Pro) c.1583G>C (n.1583G>C) n.2109G>C c.1933G>C (p.Ala645Pro) | gnomAD v4 |
4 | g.6301719G>T | CA356177110 | WFS1 | c.1960G>T (p.Ala654Ser) c.1901G>T c.1924G>T (p.Ala642Ser) c.1675G>T (p.Ala559Ser) c.1583G>T (n.1583G>T) n.2109G>T c.1933G>T (p.Ala645Ser) | |
4 | g.6301720C>A | CA356177111 | WFS1 | c.1961C>A (p.Ala654Asp) c.1902C>A c.1925C>A (p.Ala642Asp) c.1676C>A (p.Ala559Asp) c.1584C>A (n.1584C>A) n.2110C>A c.1934C>A (p.Ala645Asp) | gnomAD v4 |
4 | g.6301720C>G | CA356177112 | WFS1 | c.1961C>G (p.Ala654Gly) c.1902C>G c.1925C>G (p.Ala642Gly) c.1676C>G (p.Ala559Gly) c.1584C>G (n.1584C>G) n.2110C>G c.1934C>G (p.Ala645Gly) | |
4 | g.6301720C>T | CA356177113 | WFS1 | c.1961C>T (p.Ala654Val) c.1902C>T c.1925C>T (p.Ala642Val) c.1676C>T (p.Ala559Val) c.1584C>T (n.1584C>T) n.2110C>T c.1934C>T (p.Ala645Val) | COSMIC |
4 | g.6301721C>A | CA438368670 | WFS1 | c.1962C>A (p.Ala654=) c.1903C>A c.1926C>A (p.Ala642=) c.1677C>A (p.Ala559=) c.1585C>A (n.1585C>A) n.2111C>A c.1935C>A (p.Ala645=) | |
4 | g.6301721C= | CA1435771723 | WFS1 | c.1962C= (p.Ala654=) c.1903C= c.1926C= (p.Ala642=) c.1677C= (p.Ala559=) c.1585C= (n.1585C=) n.2111C= c.1935C= (p.Ala645=) | |
4 | g.6301721C>G | CA438368671 | WFS1 | c.1962C>G (p.Ala654=) c.1903C>G c.1926C>G (p.Ala642=) c.1677C>G (p.Ala559=) c.1585C>G (n.1585C>G) n.2111C>G c.1935C>G (p.Ala645=) | |
4 | g.6301721C>T | CA2839548 | WFS1 | c.1962C>T (p.Ala654=) c.1903C>T c.1926C>T (p.Ala642=) c.1677C>T (p.Ala559=) c.1585C>T (n.1585C>T) n.2111C>T c.1935C>T (p.Ala645=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301722A>C | CA356177114 | WFS1 | c.1963A>C (p.Ile655Leu) c.1904A>C c.1927A>C (p.Ile643Leu) c.1678A>C (p.Ile560Leu) c.1586A>C (n.1586A>C) n.2112A>C c.1936A>C (p.Ile646Leu) | |
4 | g.6301722A>G | CA356177115 | WFS1 | c.1963A>G (p.Ile655Val) c.1904A>G c.1927A>G (p.Ile643Val) c.1678A>G (p.Ile560Val) c.1586A>G (n.1586A>G) n.2112A>G c.1936A>G (p.Ile646Val) | |
4 | g.6301722A>T | CA356177116 | WFS1 | c.1963A>T (p.Ile655Phe) c.1904A>T c.1927A>T (p.Ile643Phe) c.1678A>T (p.Ile560Phe) c.1586A>T (n.1586A>T) n.2112A>T c.1936A>T (p.Ile646Phe) | |
4 | g.6301723T>A | CA356177117 | WFS1 | c.1964T>A (p.Ile655Asn) c.1905T>A c.1928T>A (p.Ile643Asn) c.1679T>A (p.Ile560Asn) c.1587T>A (n.1587T>A) n.2113T>A c.1937T>A (p.Ile646Asn) | |
4 | g.6301723T>C | CA91796689 | WFS1 | c.1964T>C (p.Ile655Thr) c.1905T>C c.1928T>C (p.Ile643Thr) c.1679T>C (p.Ile560Thr) c.1587T>C (n.1587T>C) n.2113T>C c.1937T>C (p.Ile646Thr) | dbSNP gnomAD v4 |
4 | g.6301723T>G | CA356177118 | WFS1 | c.1964T>G (p.Ile655Ser) c.1905T>G c.1928T>G (p.Ile643Ser) c.1679T>G (p.Ile560Ser) c.1587T>G (n.1587T>G) n.2113T>G c.1937T>G (p.Ile646Ser) | |
4 | g.6301723T= | CA1435771725 | WFS1 | c.1964T= (p.Ile655=) c.1905T= c.1928T= (p.Ile643=) c.1679T= (p.Ile560=) c.1587T= (n.1587T=) n.2113T= c.1937T= (p.Ile646=) | |
4 | g.6301724C>A | CA438368675 | WFS1 | c.1965C>A (p.Ile655=) c.1906C>A c.1929C>A (p.Ile643=) c.1680C>A (p.Ile560=) c.1588C>A (n.1588C>A) n.2114C>A c.1938C>A (p.Ile646=) | |
4 | g.6301724C= | CA1435771729 | WFS1 | c.1965C= (p.Ile655=) c.1906C= c.1929C= (p.Ile643=) c.1680C= (p.Ile560=) c.1588C= (n.1588C=) n.2114C= c.1938C= (p.Ile646=) | |
4 | g.6301724C>G | CA2839550 | WFS1 | c.1965C>G (p.Ile655Met) c.1906C>G c.1929C>G (p.Ile643Met) c.1680C>G (p.Ile560Met) c.1588C>G (n.1588C>G) n.2114C>G c.1938C>G (p.Ile646Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301724C>T | CA2839549 | WFS1 | c.1965C>T (p.Ile655=) c.1906C>T c.1929C>T (p.Ile643=) c.1680C>T (p.Ile560=) c.1588C>T (n.1588C>T) n.2114C>T c.1938C>T (p.Ile646=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301725G>A | CA2839551 | WFS1 | c.1966G>A (p.Val656Met) c.1907G>A c.1930G>A (p.Val644Met) c.1681G>A (p.Val561Met) c.1589G>A (n.1589G>A) n.2115G>A c.1939G>A (p.Val647Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301725G>C | CA356177119 | WFS1 | c.1966G>C (p.Val656Leu) c.1907G>C c.1930G>C (p.Val644Leu) c.1681G>C (p.Val561Leu) c.1589G>C (n.1589G>C) n.2115G>C c.1939G>C (p.Val647Leu) | |
4 | g.6301725G= | CA1435771734 | WFS1 | c.1966G= (p.Val656=) c.1907G= c.1930G= (p.Val644=) c.1681G= (p.Val561=) c.1589G= (n.1589G=) n.2115G= c.1939G= (p.Val647=) | |
4 | g.6301725G>T | CA324828 | WFS1 | c.1966G>T (p.Val656Leu) c.1907G>T c.1930G>T (p.Val644Leu) c.1681G>T (p.Val561Leu) c.1589G>T (n.1589G>T) n.2115G>T c.1939G>T (p.Val647Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301725_6301733delinsGTGCTGTTC | CA1435771733 | WFS1 | c.1966_1974delinsGTGCTGTTC (p.Val656=) c.1907_1915delinsGTGCTGTTC c.1930_1938delinsGTGCTGTTC (p.Val644=) c.1681_1689delinsGTGCTGTTC (p.Val561=) c.1589_1597delinsGTGCTGTTC (n.1589_1597delinsGTGCTGTTC) n.2115_2123delinsGTGCTGTTC c.1939_1947delinsGTGCTGTTC (p.Val647=) |