Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6301982C>A | CA356178038 | WFS1 | c.2223C>A (p.Asp741Glu) c.2164C>A c.2187C>A (p.Asp729Glu) c.1938C>A (p.Asp646Glu) c.1846C>A (n.1846C>A) n.2372C>A c.2196C>A (p.Asp732Glu) | |
4 | g.6301982C= | CA1435772152 | WFS1 | c.2223C= (p.Asp741=) c.2164C= c.2187C= (p.Asp729=) c.1938C= (p.Asp646=) c.1846C= (n.1846C=) n.2372C= c.2196C= (p.Asp732=) | |
4 | g.6301982C>G | CA356178040 | WFS1 | c.2223C>G (p.Asp741Glu) c.2164C>G c.2187C>G (p.Asp729Glu) c.1938C>G (p.Asp646Glu) c.1846C>G (n.1846C>G) n.2372C>G c.2196C>G (p.Asp732Glu) | |
4 | g.6301982C>T | CA2839636 | WFS1 | c.2223C>T (p.Asp741=) c.2164C>T c.2187C>T (p.Asp729=) c.1938C>T (p.Asp646=) c.1846C>T (n.1846C>T) n.2372C>T c.2196C>T (p.Asp732=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301983T>A | CA356178045 | WFS1 | c.2224T>A (p.Trp742Arg) c.2165T>A c.2188T>A (p.Trp730Arg) c.1939T>A (p.Trp647Arg) c.1847T>A (n.1847T>A) n.2373T>A c.2197T>A (p.Trp733Arg) | gnomAD v4 |
4 | g.6301983T>C | CA356178043 | WFS1 | c.2224T>C (p.Trp742Arg) c.2165T>C c.2188T>C (p.Trp730Arg) c.1939T>C (p.Trp647Arg) c.1847T>C (n.1847T>C) n.2373T>C c.2197T>C (p.Trp733Arg) | gnomAD v4 |
4 | g.6301983T>G | CA2839637 | WFS1 | c.2224T>G (p.Trp742Gly) c.2165T>G c.2188T>G (p.Trp730Gly) c.1939T>G (p.Trp647Gly) c.1847T>G (n.1847T>G) n.2373T>G c.2197T>G (p.Trp733Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301983T= | CA1435772154 | WFS1 | c.2224T= (p.Trp742=) c.2165T= c.2188T= (p.Trp730=) c.1939T= (p.Trp647=) c.1847T= (n.1847T=) n.2373T= c.2197T= (p.Trp733=) | |
4 | g.6301984G>A | CA2839638 | WFS1 | c.2225G>A (p.Trp742Ter) c.2166G>A c.2189G>A (p.Trp730Ter) c.1940G>A (p.Trp647Ter) c.1848G>A (n.1848G>A) n.2374G>A c.2198G>A (p.Trp733Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301984G>C | CA356178048 | WFS1 | c.2225G>C (p.Trp742Ser) c.2166G>C c.2189G>C (p.Trp730Ser) c.1940G>C (p.Trp647Ser) c.1848G>C (n.1848G>C) n.2374G>C c.2198G>C (p.Trp733Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301984G= | CA1435772155 | WFS1 | c.2225G= (p.Trp742=) c.2166G= c.2189G= (p.Trp730=) c.1940G= (p.Trp647=) c.1848G= (n.1848G=) n.2374G= c.2198G= (p.Trp733=) | |
4 | g.6301984G>T | CA356178050 | WFS1 | c.2225G>T (p.Trp742Leu) c.2166G>T c.2189G>T (p.Trp730Leu) c.1940G>T (p.Trp647Leu) c.1848G>T (n.1848G>T) n.2374G>T c.2198G>T (p.Trp733Leu) | dbSNP gnomAD v2 |
4 | g.6301985dup | CA2841725575 | WFS1 | c.2226dup (p.Met743AspfsTer28) c.2167dup c.2190dup (p.Met731AspfsTer28) c.1941dup (p.Met648AspfsTer28) c.1849dup (n.1849dup) n.2375dup c.2199dup (p.Met734AspfsTer28) | |
4 | g.6301985G>A | CA356178052 | WFS1 | c.2226G>A (p.Trp742Ter) c.2167G>A c.2190G>A (p.Trp730Ter) c.1941G>A (p.Trp647Ter) c.1849G>A (n.1849G>A) n.2375G>A c.2199G>A (p.Trp733Ter) | |
4 | g.6301985G>C | CA356178054 | WFS1 | c.2226G>C (p.Trp742Cys) c.2167G>C c.2190G>C (p.Trp730Cys) c.1941G>C (p.Trp647Cys) c.1849G>C (n.1849G>C) n.2375G>C c.2199G>C (p.Trp733Cys) | dbSNP |
4 | g.6301985G= | CA1435772157 | WFS1 | c.2226G= (p.Trp742=) c.2167G= c.2190G= (p.Trp730=) c.1941G= (p.Trp647=) c.1849G= (n.1849G=) n.2375G= c.2199G= (p.Trp733=) | |
4 | g.6301985G>T | CA2839639 | WFS1 | c.2226G>T (p.Trp742Cys) c.2167G>T c.2190G>T (p.Trp730Cys) c.1941G>T (p.Trp647Cys) c.1849G>T (n.1849G>T) n.2375G>T c.2199G>T (p.Trp733Cys) | dbSNP ExAC gnomAD v2 |
4 | g.6301986A= | CA1435772160 | WFS1 | c.2227A= (p.Met743=) c.2168A= c.2191A= (p.Met731=) c.1942A= (p.Met648=) c.1850A= (n.1850A=) n.2376A= c.2200A= (p.Met734=) | |
4 | g.6301986A>C | CA2839641 | WFS1 | c.2227A>C (p.Met743Leu) c.2168A>C c.2191A>C (p.Met731Leu) c.1942A>C (p.Met648Leu) c.1850A>C (n.1850A>C) n.2376A>C c.2200A>C (p.Met734Leu) | dbSNP ExAC gnomAD v4 |
4 | g.6301986A>G | CA2839640 | WFS1 | c.2227A>G (p.Met743Val) c.2168A>G c.2191A>G (p.Met731Val) c.1942A>G (p.Met648Val) c.1850A>G (n.1850A>G) n.2376A>G c.2200A>G (p.Met734Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301986A>T | CA356178058 | WFS1 | c.2227A>T (p.Met743Leu) c.2168A>T c.2191A>T (p.Met731Leu) c.1942A>T (p.Met648Leu) c.1850A>T (n.1850A>T) n.2376A>T c.2200A>T (p.Met734Leu) | |
4 | g.6301987T>A | CA91796920 | WFS1 | c.2228T>A (p.Met743Lys) c.2169T>A c.2192T>A (p.Met731Lys) c.1943T>A (p.Met648Lys) c.1851T>A (n.1851T>A) n.2377T>A c.2201T>A (p.Met734Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301987T>C | CA91796922 | WFS1 | c.2228T>C (p.Met743Thr) c.2169T>C c.2192T>C (p.Met731Thr) c.1943T>C (p.Met648Thr) c.1851T>C (n.1851T>C) n.2377T>C c.2201T>C (p.Met734Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301987T>G | CA356178062 | WFS1 | c.2228T>G (p.Met743Arg) c.2169T>G c.2192T>G (p.Met731Arg) c.1943T>G (p.Met648Arg) c.1851T>G (n.1851T>G) n.2377T>G c.2201T>G (p.Met734Arg) | gnomAD v4 |
4 | g.6301987T= | CA1435772162 | WFS1 | c.2228T= (p.Met743=) c.2169T= c.2192T= (p.Met731=) c.1943T= (p.Met648=) c.1851T= (n.1851T=) n.2377T= c.2201T= (p.Met734=) | |
4 | g.6301988G>A | CA356178065 | WFS1 | c.2229G>A (p.Met743Ile) c.2170G>A c.2193G>A (p.Met731Ile) c.1944G>A (p.Met648Ile) c.1852G>A (n.1852G>A) n.2378G>A c.2202G>A (p.Met734Ile) | gnomAD v4 COSMIC |
4 | g.6301988G>C | CA356178066 | WFS1 | c.2229G>C (p.Met743Ile) c.2170G>C c.2193G>C (p.Met731Ile) c.1944G>C (p.Met648Ile) c.1852G>C (n.1852G>C) n.2378G>C c.2202G>C (p.Met734Ile) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301988G= | CA1435772164 | WFS1 | c.2229G= (p.Met743=) c.2170G= c.2193G= (p.Met731=) c.1944G= (p.Met648=) c.1852G= (n.1852G=) n.2378G= c.2202G= (p.Met734=) | |
4 | g.6301988G>T | CA356178068 | WFS1 | c.2229G>T (p.Met743Ile) c.2170G>T c.2193G>T (p.Met731Ile) c.1944G>T (p.Met648Ile) c.1852G>T (n.1852G>T) n.2378G>T c.2202G>T (p.Met734Ile) | gnomAD v4 |
4 | g.6301989C>A | CA356178069 | WFS1 | c.2230C>A (p.Arg744Ser) c.2171C>A c.2194C>A (p.Arg732Ser) c.1945C>A (p.Arg649Ser) c.1853C>A (n.1853C>A) n.2379C>A c.2203C>A (p.Arg735Ser) | gnomAD v4 |
4 | g.6301989C= | CA1435772166 | WFS1 | c.2230C= (p.Arg744=) c.2171C= c.2194C= (p.Arg732=) c.1945C= (p.Arg649=) c.1853C= (n.1853C=) n.2379C= c.2203C= (p.Arg735=) | |
4 | g.6301989C>G | CA356178071 | WFS1 | c.2230C>G (p.Arg744Gly) c.2171C>G c.2194C>G (p.Arg732Gly) c.1945C>G (p.Arg649Gly) c.1853C>G (n.1853C>G) n.2379C>G c.2203C>G (p.Arg735Gly) | dbSNP |
4 | g.6301989C>T | CA325020 | WFS1 | c.2230C>T (p.Arg744Cys) c.2171C>T c.2194C>T (p.Arg732Cys) c.1945C>T (p.Arg649Cys) c.1853C>T (n.1853C>T) n.2379C>T c.2203C>T (p.Arg735Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301990_6302012dup | CA797210000 | WFS1 | c.2231_2253dup (p.Pro752AlafsTer?) c.2172_2194dup c.2195_2217dup (p.Pro740AlafsTer?) c.1946_1968dup (p.Pro657AlafsTer?) c.1854_1876dup (n.1854_1876dup) n.2380_2402dup c.2204_2226dup (p.Pro743AlafsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301990G>A | CA321654 | WFS1 | c.2231G>A (p.Arg744His) c.2172G>A c.2195G>A (p.Arg732His) c.1946G>A (p.Arg649His) c.1854G>A (n.1854G>A) n.2380G>A c.2204G>A (p.Arg735His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301990G>C | CA356178075 | WFS1 | c.2231G>C (p.Arg744Pro) c.2172G>C c.2195G>C (p.Arg732Pro) c.1946G>C (p.Arg649Pro) c.1854G>C (n.1854G>C) n.2380G>C c.2204G>C (p.Arg735Pro) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6301990G= | CA1435772168 | WFS1 | c.2231G= (p.Arg744=) c.2172G= c.2195G= (p.Arg732=) c.1946G= (p.Arg649=) c.1854G= (n.1854G=) n.2380G= c.2204G= (p.Arg735=) | |
4 | g.6301990G>T | CA356178076 | WFS1 | c.2231G>T (p.Arg744Leu) c.2172G>T c.2195G>T (p.Arg732Leu) c.1946G>T (p.Arg649Leu) c.1854G>T (n.1854G>T) n.2380G>T c.2204G>T (p.Arg735Leu) | gnomAD v4 |
4 | g.6301991C>A | CA2839642 | WFS1 | c.2232C>A (p.Arg744=) c.2173C>A c.2196C>A (p.Arg732=) c.1947C>A (p.Arg649=) c.1855C>A (n.1855C>A) n.2381C>A c.2205C>A (p.Arg735=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6301991C= | CA1435772170 | WFS1 | c.2232C= (p.Arg744=) c.2173C= c.2196C= (p.Arg732=) c.1947C= (p.Arg649=) c.1855C= (n.1855C=) n.2381C= c.2205C= (p.Arg735=) | |
4 | g.6301991C>G | CA438368706 | WFS1 | c.2232C>G (p.Arg744=) c.2173C>G c.2196C>G (p.Arg732=) c.1947C>G (p.Arg649=) c.1855C>G (n.1855C>G) n.2381C>G c.2205C>G (p.Arg735=) | |
4 | g.6301991C>T | CA438368708 | WFS1 | c.2232C>T (p.Arg744=) c.2173C>T c.2196C>T (p.Arg732=) c.1947C>T (p.Arg649=) c.1855C>T (n.1855C>T) n.2381C>T c.2205C>T (p.Arg735=) | gnomAD v4 |
4 | g.6301992T>A | CA356178082 | WFS1 | c.2233T>A (p.Cys745Ser) c.2174T>A c.2197T>A (p.Cys733Ser) c.1948T>A (p.Cys650Ser) c.1856T>A (n.1856T>A) n.2382T>A c.2206T>A (p.Cys736Ser) | |
4 | g.6301992T>C | CA356178079 | WFS1 | c.2233T>C (p.Cys745Arg) c.2174T>C c.2197T>C (p.Cys733Arg) c.1948T>C (p.Cys650Arg) c.1856T>C (n.1856T>C) n.2382T>C c.2206T>C (p.Cys736Arg) | |
4 | g.6301992T>G | CA356178081 | WFS1 | c.2233T>G (p.Cys745Gly) c.2174T>G c.2197T>G (p.Cys733Gly) c.1948T>G (p.Cys650Gly) c.1856T>G (n.1856T>G) n.2382T>G c.2206T>G (p.Cys736Gly) | ClinVar dbSNP gnomAD v4 |
4 | g.6301993G>A | CA91796929 | WFS1 | c.2234G>A (p.Cys745Tyr) c.2175G>A c.2198G>A (p.Cys733Tyr) c.1949G>A (p.Cys650Tyr) c.1857G>A (n.1857G>A) n.2383G>A c.2207G>A (p.Cys736Tyr) | dbSNP gnomAD v4 |
4 | g.6301993G>C | CA356178085 | WFS1 | c.2234G>C (p.Cys745Ser) c.2175G>C c.2198G>C (p.Cys733Ser) c.1949G>C (p.Cys650Ser) c.1857G>C (n.1857G>C) n.2383G>C c.2207G>C (p.Cys736Ser) | |
4 | g.6301993G= | CA1435772172 | WFS1 | c.2234G= (p.Cys745=) c.2175G= c.2198G= (p.Cys733=) c.1949G= (p.Cys650=) c.1857G= (n.1857G=) n.2383G= c.2207G= (p.Cys736=) | |
4 | g.6301993G>T | CA356178086 | WFS1 | c.2234G>T (p.Cys745Phe) c.2175G>T c.2198G>T (p.Cys733Phe) c.1949G>T (p.Cys650Phe) c.1857G>T (n.1857G>T) n.2383G>T c.2207G>T (p.Cys736Phe) | gnomAD v4 |
4 | g.6301994C>A | CA356178087 | WFS1 | c.2235C>A (p.Cys745Ter) c.2176C>A c.2199C>A (p.Cys733Ter) c.1950C>A (p.Cys650Ter) c.1858C>A (n.1858C>A) n.2384C>A c.2208C>A (p.Cys736Ter) | dbSNP |
4 | g.6301994C= | CA1435772173 | WFS1 | c.2235C= (p.Cys745=) c.2176C= c.2199C= (p.Cys733=) c.1950C= (p.Cys650=) c.1858C= (n.1858C=) n.2384C= c.2208C= (p.Cys736=) | |
4 | g.6301994C>G | CA356178088 | WFS1 | c.2235C>G (p.Cys745Trp) c.2176C>G c.2199C>G (p.Cys733Trp) c.1950C>G (p.Cys650Trp) c.1858C>G (n.1858C>G) n.2384C>G c.2208C>G (p.Cys736Trp) | gnomAD v4 |
4 | g.6301994C>T | CA91796932 | WFS1 | c.2235C>T (p.Cys745=) c.2176C>T c.2199C>T (p.Cys733=) c.1950C>T (p.Cys650=) c.1858C>T (n.1858C>T) n.2384C>T c.2208C>T (p.Cys736=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301995C>A | CA356178089 | WFS1 | c.2236C>A (p.Leu746Ile) c.2177C>A c.2200C>A (p.Leu734Ile) c.1951C>A (p.Leu651Ile) c.1859C>A (n.1859C>A) n.2385C>A c.2209C>A (p.Leu737Ile) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6301995C= | CA1435772175 | WFS1 | c.2236C= (p.Leu746=) c.2177C= c.2200C= (p.Leu734=) c.1951C= (p.Leu651=) c.1859C= (n.1859C=) n.2385C= c.2209C= (p.Leu737=) | |
4 | g.6301995C>G | CA356178090 | WFS1 | c.2236C>G (p.Leu746Val) c.2177C>G c.2200C>G (p.Leu734Val) c.1951C>G (p.Leu651Val) c.1859C>G (n.1859C>G) n.2385C>G c.2209C>G (p.Leu737Val) | |
4 | g.6301995C>T | CA2839643 | WFS1 | c.2236C>T (p.Leu746Phe) c.2177C>T c.2200C>T (p.Leu734Phe) c.1951C>T (p.Leu651Phe) c.1859C>T (n.1859C>T) n.2385C>T c.2209C>T (p.Leu737Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301996T>A | CA356178091 | WFS1 | c.2237T>A (p.Leu746His) c.2178T>A c.2201T>A (p.Leu734His) c.1952T>A (p.Leu651His) c.1860T>A (n.1860T>A) n.2386T>A c.2210T>A (p.Leu737His) | ClinVar dbSNP |
4 | g.6301996T>C | CA356178093 | WFS1 | c.2237T>C (p.Leu746Pro) c.2178T>C c.2201T>C (p.Leu734Pro) c.1952T>C (p.Leu651Pro) c.1860T>C (n.1860T>C) n.2386T>C c.2210T>C (p.Leu737Pro) | |
4 | g.6301996T>G | CA356178094 | WFS1 | c.2237T>G (p.Leu746Arg) c.2178T>G c.2201T>G (p.Leu734Arg) c.1952T>G (p.Leu651Arg) c.1860T>G (n.1860T>G) n.2386T>G c.2210T>G (p.Leu737Arg) | dbSNP |
4 | g.6301996T= | CA1435772177 | WFS1 | c.2237T= (p.Leu746=) c.2178T= c.2201T= (p.Leu734=) c.1952T= (p.Leu651=) c.1860T= (n.1860T=) n.2386T= c.2210T= (p.Leu737=) | |
4 | g.6301997C>A | CA438368710 | WFS1 | c.2238C>A (p.Leu746=) c.2179C>A c.2202C>A (p.Leu734=) c.1953C>A (p.Leu651=) c.1861C>A (n.1861C>A) n.2387C>A c.2211C>A (p.Leu737=) | |
4 | g.6301997C= | CA1435772179 | WFS1 | c.2238C= (p.Leu746=) c.2179C= c.2202C= (p.Leu734=) c.1953C= (p.Leu651=) c.1861C= (n.1861C=) n.2387C= c.2211C= (p.Leu737=) | |
4 | g.6301997C>G | CA438368711 | WFS1 | c.2238C>G (p.Leu746=) c.2179C>G c.2202C>G (p.Leu734=) c.1953C>G (p.Leu651=) c.1861C>G (n.1861C>G) n.2387C>G c.2211C>G (p.Leu737=) | ClinVar dbSNP gnomAD v2 |
4 | g.6301997C>T | CA136350 | WFS1 | c.2238C>T (p.Leu746=) c.2179C>T c.2202C>T (p.Leu734=) c.1953C>T (p.Leu651=) c.1861C>T (n.1861C>T) n.2387C>T c.2211C>T (p.Leu737=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6301998T>A | CA356178101 | WFS1 | c.2239T>A (p.Tyr747Asn) c.2180T>A c.2203T>A (p.Tyr735Asn) c.1954T>A (p.Tyr652Asn) c.1862T>A (n.1862T>A) n.2388T>A c.2212T>A (p.Tyr738Asn) | dbSNP gnomAD v4 |
4 | g.6301998T>C | CA356178099 | WFS1 | c.2239T>C (p.Tyr747His) c.2180T>C c.2203T>C (p.Tyr735His) c.1954T>C (p.Tyr652His) c.1862T>C (n.1862T>C) n.2388T>C c.2212T>C (p.Tyr738His) | gnomAD v4 |
4 | g.6301998T>G | CA356178098 | WFS1 | c.2239T>G (p.Tyr747Asp) c.2180T>G c.2203T>G (p.Tyr735Asp) c.1954T>G (p.Tyr652Asp) c.1862T>G (n.1862T>G) n.2388T>G c.2212T>G (p.Tyr738Asp) | |
4 | g.6301998T= | CA1435772181 | WFS1 | c.2239T= (p.Tyr747=) c.2180T= c.2203T= (p.Tyr735=) c.1954T= (p.Tyr652=) c.1862T= (n.1862T=) n.2388T= c.2212T= (p.Tyr738=) | |
4 | g.6301998_6302011del | CA2669843451 | WFS1 | c.2239_2252del (p.Tyr747ProfsTer19) c.2180_2193del c.2203_2216del (p.Tyr735ProfsTer19) c.1954_1967del (p.Tyr652ProfsTer19) c.1862_1875del (n.1862_1875del) n.2388_2401del c.2212_2225del (p.Tyr738ProfsTer19) | gnomAD v4 |
4 | g.6301999A= | CA1435772182 | WFS1 | c.2240A= (p.Tyr747=) c.2181A= c.2204A= (p.Tyr735=) c.1955A= (p.Tyr652=) c.1863A= (n.1863A=) n.2389A= c.2213A= (p.Tyr738=) | |
4 | g.6301999A>C | CA356178103 | WFS1 | c.2240A>C (p.Tyr747Ser) c.2181A>C c.2204A>C (p.Tyr735Ser) c.1955A>C (p.Tyr652Ser) c.1863A>C (n.1863A>C) n.2389A>C c.2213A>C (p.Tyr738Ser) | |
4 | g.6301999A>G | CA356178104 | WFS1 | c.2240A>G (p.Tyr747Cys) c.2181A>G c.2204A>G (p.Tyr735Cys) c.1955A>G (p.Tyr652Cys) c.1863A>G (n.1863A>G) n.2389A>G c.2213A>G (p.Tyr738Cys) | dbSNP gnomAD v4 |
4 | g.6301999A>T | CA356178105 | WFS1 | c.2240A>T (p.Tyr747Phe) c.2181A>T c.2204A>T (p.Tyr735Phe) c.1955A>T (p.Tyr652Phe) c.1863A>T (n.1863A>T) n.2389A>T c.2213A>T (p.Tyr738Phe) | |
4 | g.6302000C>A | CA356178107 | WFS1 | c.2241C>A (p.Tyr747Ter) c.2182C>A c.2205C>A (p.Tyr735Ter) c.1956C>A (p.Tyr652Ter) c.1864C>A (n.1864C>A) n.2390C>A c.2214C>A (p.Tyr738Ter) | dbSNP gnomAD v2 |
4 | g.6302000C= | CA1435772185 | WFS1 | c.2241C= (p.Tyr747=) c.2182C= c.2205C= (p.Tyr735=) c.1956C= (p.Tyr652=) c.1864C= (n.1864C=) n.2390C= c.2214C= (p.Tyr738=) | |
4 | g.6302000C>G | CA356178109 | WFS1 | c.2241C>G (p.Tyr747Ter) c.2182C>G c.2205C>G (p.Tyr735Ter) c.1956C>G (p.Tyr652Ter) c.1864C>G (n.1864C>G) n.2390C>G c.2214C>G (p.Tyr738Ter) | ClinVar dbSNP |
4 | g.6302000C>T | CA295795 | WFS1 | c.2241C>T (p.Tyr747=) c.2182C>T c.2205C>T (p.Tyr735=) c.1956C>T (p.Tyr652=) c.1864C>T (n.1864C>T) n.2390C>T c.2214C>T (p.Tyr738=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302000_6302001delinsCG | CA1435772183 | WFS1 | c.2241_2242delinsCG (p.Tyr747=) c.2182_2183delinsCG c.2205_2206delinsCG (p.Tyr735=) c.1956_1957delinsCG (p.Tyr652=) c.1864_1865delinsCG (n.1864_1865delinsCG) n.2390_2391delinsCG c.2214_2215delinsCG (p.Tyr738=) | |
4 | g.6302001G>A | CA2839644 | WFS1 | c.2242G>A (p.Gly748Ser) c.2183G>A c.2206G>A (p.Gly736Ser) c.1957G>A (p.Gly653Ser) c.1865G>A (n.1865G>A) n.2391G>A c.2215G>A (p.Gly739Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302001G>C | CA91796940 | WFS1 | c.2242G>C (p.Gly748Arg) c.2183G>C c.2206G>C (p.Gly736Arg) c.1957G>C (p.Gly653Arg) c.1865G>C (n.1865G>C) n.2391G>C c.2215G>C (p.Gly739Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302001G= | CA1435772187 | WFS1 | c.2242G= (p.Gly748=) c.2183G= c.2206G= (p.Gly736=) c.1957G= (p.Gly653=) c.1865G= (n.1865G=) n.2391G= c.2215G= (p.Gly739=) | |
4 | g.6302001G>T | CA356178113 | WFS1 | c.2242G>T (p.Gly748Cys) c.2183G>T c.2206G>T (p.Gly736Cys) c.1957G>T (p.Gly653Cys) c.1865G>T (n.1865G>T) n.2391G>T c.2215G>T (p.Gly739Cys) | |
4 | g.6302002del | CA1435772186 | WFS1 | c.2243del (p.Gly748AlafsTer?) c.2184del c.2207del (p.Gly736AlafsTer?) c.1958del (p.Gly653AlafsTer?) c.1866del (n.1866del) n.2392del c.2216del (p.Gly739AlafsTer?) | dbSNP |
4 | g.6302001_6302005delinsGGCGA | CA1435772188 | WFS1 | c.2242_2246delinsGGCGA (p.Gly748=) c.2183_2187delinsGGCGA c.2206_2210delinsGGCGA (p.Gly736=) c.1957_1961delinsGGCGA (p.Gly653=) c.1865_1869delinsGGCGA (n.1865_1869delinsGGCGA) n.2391_2395delinsGGCGA c.2215_2219delinsGGCGA (p.Gly739=) | |
4 | g.6302002G>A | CA91796942 | WFS1 | c.2243G>A (p.Gly748Asp) c.2184G>A c.2207G>A (p.Gly736Asp) c.1958G>A (p.Gly653Asp) c.1866G>A (n.1866G>A) n.2392G>A c.2216G>A (p.Gly739Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302002G>C | CA356178116 | WFS1 | c.2243G>C (p.Gly748Ala) c.2184G>C c.2207G>C (p.Gly736Ala) c.1958G>C (p.Gly653Ala) c.1866G>C (n.1866G>C) n.2392G>C c.2216G>C (p.Gly739Ala) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302002G= | CA1435772191 | WFS1 | c.2243G= (p.Gly748=) c.2184G= c.2207G= (p.Gly736=) c.1958G= (p.Gly653=) c.1866G= (n.1866G=) n.2392G= c.2216G= (p.Gly739=) | |
4 | g.6302002G>T | CA356178118 | WFS1 | c.2243G>T (p.Gly748Val) c.2184G>T c.2207G>T (p.Gly736Val) c.1958G>T (p.Gly653Val) c.1866G>T (n.1866G>T) n.2392G>T c.2216G>T (p.Gly739Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302003_6302006del | CA16621816 | WFS1 | c.2244_2247del (p.Glu749ProfsTer?) c.2185_2188del c.2208_2211del (p.Glu737ProfsTer?) c.1959_1962del (p.Glu654ProfsTer?) c.1867_1870del (n.1867_1870del) n.2393_2396del c.2217_2220del (p.Glu740ProfsTer?) | ClinVar dbSNP gnomAD v2 |
4 | g.6302003C>A | CA438368719 | WFS1 | c.2244C>A (p.Gly748=) c.2185C>A c.2208C>A (p.Gly736=) c.1959C>A (p.Gly653=) c.1867C>A (n.1867C>A) n.2393C>A c.2217C>A (p.Gly739=) | |
4 | g.6302003C= | CA1435772195 | WFS1 | c.2244C= (p.Gly748=) c.2185C= c.2208C= (p.Gly736=) c.1959C= (p.Gly653=) c.1867C= (n.1867C=) n.2393C= c.2217C= (p.Gly739=) | |
4 | g.6302003C>G | CA438368721 | WFS1 | c.2244C>G (p.Gly748=) c.2185C>G c.2208C>G (p.Gly736=) c.1959C>G (p.Gly653=) c.1867C>G (n.1867C>G) n.2393C>G c.2217C>G (p.Gly739=) | gnomAD v4 |
4 | g.6302003C>T | CA2839645 | WFS1 | c.2244C>T (p.Gly748=) c.2185C>T c.2208C>T (p.Gly736=) c.1959C>T (p.Gly653=) c.1867C>T (n.1867C>T) n.2393C>T c.2217C>T (p.Gly739=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302004G>A | CA232844 | WFS1 | c.2245G>A (p.Glu749Lys) c.2186G>A c.2209G>A (p.Glu737Lys) c.1960G>A (p.Glu654Lys) c.1868G>A (n.1868G>A) n.2394G>A c.2218G>A (p.Glu740Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302004G>C | CA356178122 | WFS1 | c.2245G>C (p.Glu749Gln) c.2186G>C c.2209G>C (p.Glu737Gln) c.1960G>C (p.Glu654Gln) c.1868G>C (n.1868G>C) n.2394G>C c.2218G>C (p.Glu740Gln) | gnomAD v4 |
4 | g.6302004G= | CA1435772198 | WFS1 | c.2245G= (p.Glu749=) c.2186G= c.2209G= (p.Glu737=) c.1960G= (p.Glu654=) c.1868G= (n.1868G=) n.2394G= c.2218G= (p.Glu740=) | |
4 | g.6302004G>T | CA356178120 | WFS1 | c.2245G>T (p.Glu749Ter) c.2186G>T c.2209G>T (p.Glu737Ter) c.1960G>T (p.Glu654Ter) c.1868G>T (n.1868G>T) n.2394G>T c.2218G>T (p.Glu740Ter) | |
4 | g.6302005A>C | CA356178123 | WFS1 | c.2246A>C (p.Glu749Ala) c.2187A>C c.2210A>C (p.Glu737Ala) c.1961A>C (p.Glu654Ala) c.1869A>C (n.1869A>C) n.2395A>C c.2219A>C (p.Glu740Ala) | |
4 | g.6302005A>G | CA356178127 | WFS1 | c.2246A>G (p.Glu749Gly) c.2187A>G c.2210A>G (p.Glu737Gly) c.1961A>G (p.Glu654Gly) c.1869A>G (n.1869A>G) n.2395A>G c.2219A>G (p.Glu740Gly) | gnomAD v4 |
4 | g.6302005A>T | CA356178125 | WFS1 | c.2246A>T (p.Glu749Val) c.2187A>T c.2210A>T (p.Glu737Val) c.1961A>T (p.Glu654Val) c.1869A>T (n.1869A>T) n.2395A>T c.2219A>T (p.Glu740Val) | |
4 | g.6302006G>A | CA438368722 | WFS1 | c.2247G>A (p.Glu749=) c.2188G>A c.2211G>A (p.Glu737=) c.1962G>A (p.Glu654=) c.1870G>A (n.1870G>A) n.2396G>A c.2220G>A (p.Glu740=) | |
4 | g.6302006G>C | CA356178128 | WFS1 | c.2247G>C (p.Glu749Asp) c.2188G>C c.2211G>C (p.Glu737Asp) c.1962G>C (p.Glu654Asp) c.1870G>C (n.1870G>C) n.2396G>C c.2220G>C (p.Glu740Asp) | |
4 | g.6302006G>T | CA356178129 | WFS1 | c.2247G>T (p.Glu749Asp) c.2188G>T c.2211G>T (p.Glu737Asp) c.1962G>T (p.Glu654Asp) c.1870G>T (n.1870G>T) n.2396G>T c.2220G>T (p.Glu740Asp) | |
4 | g.6302007G>A | CA2839646 | WFS1 | c.2248G>A (p.Ala750Thr) c.2189G>A c.2212G>A (p.Ala738Thr) c.1963G>A (p.Ala655Thr) c.1871G>A (n.1871G>A) n.2397G>A c.2221G>A (p.Ala741Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302007G>C | CA356178132 | WFS1 | c.2248G>C (p.Ala750Pro) c.2189G>C c.2212G>C (p.Ala738Pro) c.1963G>C (p.Ala655Pro) c.1871G>C (n.1871G>C) n.2397G>C c.2221G>C (p.Ala741Pro) | |
4 | g.6302007G= | CA1435772201 | WFS1 | c.2248G= (p.Ala750=) c.2189G= c.2212G= (p.Ala738=) c.1963G= (p.Ala655=) c.1871G= (n.1871G=) n.2397G= c.2221G= (p.Ala741=) | |
4 | g.6302007G>T | CA356178134 | WFS1 | c.2248G>T (p.Ala750Ser) c.2189G>T c.2212G>T (p.Ala738Ser) c.1963G>T (p.Ala655Ser) c.1871G>T (n.1871G>T) n.2397G>T c.2221G>T (p.Ala741Ser) | |
4 | g.6302008C>A | CA2839647 | WFS1 | c.2249C>A (p.Ala750Asp) c.2190C>A c.2213C>A (p.Ala738Asp) c.1964C>A (p.Ala655Asp) c.1872C>A (n.1872C>A) n.2398C>A c.2222C>A (p.Ala741Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302008C= | CA1435772203 | WFS1 | c.2249C= (p.Ala750=) c.2190C= c.2213C= (p.Ala738=) c.1964C= (p.Ala655=) c.1872C= (n.1872C=) n.2398C= c.2222C= (p.Ala741=) | |
4 | g.6302008C>G | CA356178137 | WFS1 | c.2249C>G (p.Ala750Gly) c.2190C>G c.2213C>G (p.Ala738Gly) c.1964C>G (p.Ala655Gly) c.1872C>G (n.1872C>G) n.2398C>G c.2222C>G (p.Ala741Gly) | gnomAD v4 |
4 | g.6302008C>T | CA356178139 | WFS1 | c.2249C>T (p.Ala750Val) c.2190C>T c.2213C>T (p.Ala738Val) c.1964C>T (p.Ala655Val) c.1872C>T (n.1872C>T) n.2398C>T c.2222C>T (p.Ala741Val) | gnomAD v4 COSMIC |
4 | g.6302009C>A | CA438368730 | WFS1 | c.2250C>A (p.Ala750=) c.2191C>A c.2214C>A (p.Ala738=) c.1965C>A (p.Ala655=) c.1873C>A (n.1873C>A) n.2399C>A c.2223C>A (p.Ala741=) | |
4 | g.6302009C= | CA1435772205 | WFS1 | c.2250C= (p.Ala750=) c.2191C= c.2214C= (p.Ala738=) c.1965C= (p.Ala655=) c.1873C= (n.1873C=) n.2399C= c.2223C= (p.Ala741=) | |
4 | g.6302009C>G | CA438368729 | WFS1 | c.2250C>G (p.Ala750=) c.2191C>G c.2214C>G (p.Ala738=) c.1965C>G (p.Ala655=) c.1873C>G (n.1873C>G) n.2399C>G c.2223C>G (p.Ala741=) | |
4 | g.6302009C>T | CA438368728 | WFS1 | c.2250C>T (p.Ala750=) c.2191C>T c.2214C>T (p.Ala738=) c.1965C>T (p.Ala655=) c.1873C>T (n.1873C>T) n.2399C>T c.2223C>T (p.Ala741=) | dbSNP gnomAD v4 |
4 | g.6302010T>A | CA356178141 | WFS1 | c.2251T>A (p.Tyr751Asn) c.2192T>A c.2215T>A (p.Tyr739Asn) c.1966T>A (p.Tyr656Asn) c.1874T>A (n.1874T>A) n.2400T>A c.2224T>A (p.Tyr742Asn) | |
4 | g.6302010T>C | CA356178143 | WFS1 | c.2251T>C (p.Tyr751His) c.2192T>C c.2215T>C (p.Tyr739His) c.1966T>C (p.Tyr656His) c.1874T>C (n.1874T>C) n.2400T>C c.2224T>C (p.Tyr742His) | |
4 | g.6302010T>G | CA91796952 | WFS1 | c.2251T>G (p.Tyr751Asp) c.2192T>G c.2215T>G (p.Tyr739Asp) c.1966T>G (p.Tyr656Asp) c.1874T>G (n.1874T>G) n.2400T>G c.2224T>G (p.Tyr742Asp) | dbSNP |
4 | g.6302010T= | CA1435772207 | WFS1 | c.2251T= (p.Tyr751=) c.2192T= c.2215T= (p.Tyr739=) c.1966T= (p.Tyr656=) c.1874T= (n.1874T=) n.2400T= c.2224T= (p.Tyr742=) | |
4 | g.6302011A= | CA1435772208 | WFS1 | c.2252A= (p.Tyr751=) c.2193A= c.2216A= (p.Tyr739=) c.1967A= (p.Tyr656=) c.1875A= (n.1875A=) n.2401A= c.2225A= (p.Tyr742=) | |
4 | g.6302011A>C | CA356178149 | WFS1 | c.2252A>C (p.Tyr751Ser) c.2193A>C c.2216A>C (p.Tyr739Ser) c.1967A>C (p.Tyr656Ser) c.1875A>C (n.1875A>C) n.2401A>C c.2225A>C (p.Tyr742Ser) | dbSNP |
4 | g.6302011A>G | CA356178146 | WFS1 | c.2252A>G (p.Tyr751Cys) c.2193A>G c.2216A>G (p.Tyr739Cys) c.1967A>G (p.Tyr656Cys) c.1875A>G (n.1875A>G) n.2401A>G c.2225A>G (p.Tyr742Cys) | COSMIC |
4 | g.6302011A>T | CA356178148 | WFS1 | c.2252A>T (p.Tyr751Phe) c.2193A>T c.2216A>T (p.Tyr739Phe) c.1967A>T (p.Tyr656Phe) c.1875A>T (n.1875A>T) n.2401A>T c.2225A>T (p.Tyr742Phe) | |
4 | g.6302012C>A | CA356178151 | WFS1 | c.2253C>A (p.Tyr751Ter) c.2194C>A c.2217C>A (p.Tyr739Ter) c.1968C>A (p.Tyr656Ter) c.1876C>A (n.1876C>A) n.2402C>A c.2226C>A (p.Tyr742Ter) | |
4 | g.6302012C>G | CA356178153 | WFS1 | c.2253C>G (p.Tyr751Ter) c.2194C>G c.2217C>G (p.Tyr739Ter) c.1968C>G (p.Tyr656Ter) c.1876C>G (n.1876C>G) n.2402C>G c.2226C>G (p.Tyr742Ter) | |
4 | g.6302012C>T | CA438368732 | WFS1 | c.2253C>T (p.Tyr751=) c.2194C>T c.2217C>T (p.Tyr739=) c.1968C>T (p.Tyr656=) c.1876C>T (n.1876C>T) n.2402C>T c.2226C>T (p.Tyr742=) | ClinVar dbSNP gnomAD v4 |
4 | g.6302013C>A | CA356178155 | WFS1 | c.2254C>A (p.Pro752Thr) c.2195C>A c.2218C>A (p.Pro740Thr) c.1969C>A (p.Pro657Thr) c.1877C>A (n.1877C>A) n.2403C>A c.2227C>A (p.Pro743Thr) | gnomAD v4 |
4 | g.6302013C= | CA1435772211 | WFS1 | c.2254C= (p.Pro752=) c.2195C= c.2218C= (p.Pro740=) c.1969C= (p.Pro657=) c.1877C= (n.1877C=) n.2403C= c.2227C= (p.Pro743=) | |
4 | g.6302013C>G | CA356178157 | WFS1 | c.2254C>G (p.Pro752Ala) c.2195C>G c.2218C>G (p.Pro740Ala) c.1969C>G (p.Pro657Ala) c.1877C>G (n.1877C>G) n.2403C>G c.2227C>G (p.Pro743Ala) | |
4 | g.6302013C>T | CA2839648 | WFS1 | c.2254C>T (p.Pro752Ser) c.2195C>T c.2218C>T (p.Pro740Ser) c.1969C>T (p.Pro657Ser) c.1877C>T (n.1877C>T) n.2403C>T c.2227C>T (p.Pro743Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302014C>A | CA2839650 | WFS1 | c.2255C>A (p.Pro752His) c.2196C>A c.2219C>A (p.Pro740His) c.1970C>A (p.Pro657His) c.1878C>A (n.1878C>A) n.2404C>A c.2228C>A (p.Pro743His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302014C= | CA1435772213 | WFS1 | c.2255C= (p.Pro752=) c.2196C= c.2219C= (p.Pro740=) c.1970C= (p.Pro657=) c.1878C= (n.1878C=) n.2404C= c.2228C= (p.Pro743=) | |
4 | g.6302014C>G | CA356178160 | WFS1 | c.2255C>G (p.Pro752Arg) c.2196C>G c.2219C>G (p.Pro740Arg) c.1970C>G (p.Pro657Arg) c.1878C>G (n.1878C>G) n.2404C>G c.2228C>G (p.Pro743Arg) | |
4 | g.6302014C>T | CA2839649 | WFS1 | c.2255C>T (p.Pro752Leu) c.2196C>T c.2219C>T (p.Pro740Leu) c.1970C>T (p.Pro657Leu) c.1878C>T (n.1878C>T) n.2404C>T c.2228C>T (p.Pro743Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302015T>A | CA438368736 | WFS1 | c.2256T>A (p.Pro752=) c.2197T>A c.2220T>A (p.Pro740=) c.1971T>A (p.Pro657=) c.1879T>A (n.1879T>A) n.2405T>A c.2229T>A (p.Pro743=) | |
4 | g.6302015T>C | CA438368737 | WFS1 | c.2256T>C (p.Pro752=) c.2197T>C c.2220T>C (p.Pro740=) c.1971T>C (p.Pro657=) c.1879T>C (n.1879T>C) n.2405T>C c.2229T>C (p.Pro743=) | |
4 | g.6302015T>G | CA438368738 | WFS1 | c.2256T>G (p.Pro752=) c.2197T>G c.2220T>G (p.Pro740=) c.1971T>G (p.Pro657=) c.1879T>G (n.1879T>G) n.2405T>G c.2229T>G (p.Pro743=) | |
4 | g.6302016G>A | CA356178162 | WFS1 | c.2257G>A (p.Ala753Thr) c.2198G>A c.2221G>A (p.Ala741Thr) c.1972G>A (p.Ala658Thr) c.1880G>A (n.1880G>A) n.2406G>A c.2230G>A (p.Ala744Thr) | |
4 | g.6302016G>C | CA356178164 | WFS1 | c.2257G>C (p.Ala753Pro) c.2198G>C c.2221G>C (p.Ala741Pro) c.1972G>C (p.Ala658Pro) c.1880G>C (n.1880G>C) n.2406G>C c.2230G>C (p.Ala744Pro) | gnomAD v4 |
4 | g.6302016G>T | CA356178166 | WFS1 | c.2257G>T (p.Ala753Ser) c.2198G>T c.2221G>T (p.Ala741Ser) c.1972G>T (p.Ala658Ser) c.1880G>T (n.1880G>T) n.2406G>T c.2230G>T (p.Ala744Ser) | |
4 | g.6302017C>A | CA356178167 | WFS1 | c.2258C>A (p.Ala753Asp) c.2199C>A c.2222C>A (p.Ala741Asp) c.1973C>A (p.Ala658Asp) c.1881C>A (n.1881C>A) n.2407C>A c.2231C>A (p.Ala744Asp) | COSMIC |
4 | g.6302017C= | CA1435772214 | WFS1 | c.2258C= (p.Ala753=) c.2199C= c.2222C= (p.Ala741=) c.1973C= (p.Ala658=) c.1881C= (n.1881C=) n.2407C= c.2231C= (p.Ala744=) | |
4 | g.6302017C>G | CA2839651 | WFS1 | c.2258C>G (p.Ala753Gly) c.2199C>G c.2222C>G (p.Ala741Gly) c.1973C>G (p.Ala658Gly) c.1881C>G (n.1881C>G) n.2407C>G c.2231C>G (p.Ala744Gly) | dbSNP ExAC gnomAD v2 |
4 | g.6302017C>T | CA323939 | WFS1 | c.2258C>T (p.Ala753Val) c.2199C>T c.2222C>T (p.Ala741Val) c.1973C>T (p.Ala658Val) c.1881C>T (n.1881C>T) n.2407C>T c.2231C>T (p.Ala744Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302018C>A | CA2839653 | WFS1 | c.2259C>A (p.Ala753=) c.2200C>A c.2223C>A (p.Ala741=) c.1974C>A (p.Ala658=) c.1882C>A (n.1882C>A) n.2408C>A c.2232C>A (p.Ala744=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302018C= | CA1435772216 | WFS1 | c.2259C= (p.Ala753=) c.2200C= c.2223C= (p.Ala741=) c.1974C= (p.Ala658=) c.1882C= (n.1882C=) n.2408C= c.2232C= (p.Ala744=) | |
4 | g.6302018C>G | CA438368741 | WFS1 | c.2259C>G (p.Ala753=) c.2200C>G c.2223C>G (p.Ala741=) c.1974C>G (p.Ala658=) c.1882C>G (n.1882C>G) n.2408C>G c.2232C>G (p.Ala744=) | |
4 | g.6302018C>T | CA2839652 | WFS1 | c.2259C>T (p.Ala753=) c.2200C>T c.2223C>T (p.Ala741=) c.1974C>T (p.Ala658=) c.1882C>T (n.1882C>T) n.2408C>T c.2232C>T (p.Ala744=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302019T>A | CA356178168 | WFS1 | c.2260T>A (p.Cys754Ser) c.2201T>A c.2224T>A (p.Cys742Ser) c.1975T>A (p.Cys659Ser) c.1883T>A (n.1883T>A) n.2409T>A c.2233T>A (p.Cys745Ser) | |
4 | g.6302019T>C | CA91796965 | WFS1 | c.2260T>C (p.Cys754Arg) c.2201T>C c.2224T>C (p.Cys742Arg) c.1975T>C (p.Cys659Arg) c.1883T>C (n.1883T>C) n.2409T>C c.2233T>C (p.Cys745Arg) | ClinVar dbSNP |
4 | g.6302019T>G | CA356178169 | WFS1 | c.2260T>G (p.Cys754Gly) c.2201T>G c.2224T>G (p.Cys742Gly) c.1975T>G (p.Cys659Gly) c.1883T>G (n.1883T>G) n.2409T>G c.2233T>G (p.Cys745Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302019T= | CA1435772218 | WFS1 | c.2260T= (p.Cys754=) c.2201T= c.2224T= (p.Cys742=) c.1975T= (p.Cys659=) c.1883T= (n.1883T=) n.2409T= c.2233T= (p.Cys745=) | |
4 | g.6302019dup | CA915944126 | WFS1 | c.2260dup (p.Cys754LeufsTer17) c.2201dup c.2224dup (p.Cys742LeufsTer17) c.1975dup (p.Cys659LeufsTer17) c.1883dup (n.1883dup) n.2409dup c.2233dup (p.Cys745LeufsTer17) | ClinVar dbSNP |
4 | g.6302019_6302042delinsTGCAGCCCTGGCAACACCTCCACG | CA1435772217 | WFS1 | c.2260_2283delinsTGCAGCCCTGGCAACACCTCCACG (p.Cys754=) c.2201_2224delinsTGCAGCCCTGGCAACACCTCCACG c.2224_2247delinsTGCAGCCCTGGCAACACCTCCACG (p.Cys742=) c.1975_1998delinsTGCAGCCCTGGCAACACCTCCACG (p.Cys659=) c.1883_1906delinsTGCAGCCCTGGCAACACCTCCACG (n.1883_1906delinsTGCAGCCCTGGCAACACCTCCACG) n.2409_2432delinsTGCAGCCCTGGCAACACCTCCACG c.2233_2256delinsTGCAGCCCTGGCAACACCTCCACG (p.Cys745=) | |
4 | g.6302020G>A | CA2839654 | WFS1 | c.2261G>A (p.Cys754Tyr) c.2202G>A c.2225G>A (p.Cys742Tyr) c.1976G>A (p.Cys659Tyr) c.1884G>A (n.1884G>A) n.2410G>A c.2234G>A (p.Cys745Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302020G>C | CA356178170 | WFS1 | c.2261G>C (p.Cys754Ser) c.2202G>C c.2225G>C (p.Cys742Ser) c.1976G>C (p.Cys659Ser) c.1884G>C (n.1884G>C) n.2410G>C c.2234G>C (p.Cys745Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302020G= | CA1435772222 | WFS1 | c.2261G= (p.Cys754=) c.2202G= c.2225G= (p.Cys742=) c.1976G= (p.Cys659=) c.1884G= (n.1884G=) n.2410G= c.2234G= (p.Cys745=) | |
4 | g.6302020G>T | CA356178171 | WFS1 | c.2261G>T (p.Cys754Phe) c.2202G>T c.2225G>T (p.Cys742Phe) c.1976G>T (p.Cys659Phe) c.1884G>T (n.1884G>T) n.2410G>T c.2234G>T (p.Cys745Phe) | |
4 | g.6302022_6302044del | CA1435772220 | WFS1 | c.2263_2285del (p.Ser755ArgfsTer8) c.2204_2226del c.2227_2249del (p.Ser743ArgfsTer8) c.1978_2000del (p.Ser660ArgfsTer8) c.1886_1908del (n.1886_1908del) n.2412_2434del c.2236_2258del (p.Ser746ArgfsTer8) | dbSNP |
4 | g.6302021C>A | CA356178172 | WFS1 | c.2262C>A (p.Cys754Ter) c.2203C>A c.2226C>A (p.Cys742Ter) c.1977C>A (p.Cys659Ter) c.1885C>A (n.1885C>A) n.2411C>A c.2235C>A (p.Cys745Ter) | |
4 | g.6302021C= | CA1435772223 | WFS1 | c.2262C= (p.Cys754=) c.2203C= c.2226C= (p.Cys742=) c.1977C= (p.Cys659=) c.1885C= (n.1885C=) n.2411C= c.2235C= (p.Cys745=) | |
4 | g.6302021C>G | CA91796971 | WFS1 | c.2262C>G (p.Cys754Trp) c.2203C>G c.2226C>G (p.Cys742Trp) c.1977C>G (p.Cys659Trp) c.1885C>G (n.1885C>G) n.2411C>G c.2235C>G (p.Cys745Trp) | dbSNP |
4 | g.6302021C>T | CA438368744 | WFS1 | c.2262C>T (p.Cys754=) c.2203C>T c.2226C>T (p.Cys742=) c.1977C>T (p.Cys659=) c.1885C>T (n.1885C>T) n.2411C>T c.2235C>T (p.Cys745=) | gnomAD v4 |
4 | g.6302022A>C | CA356178173 | WFS1 | c.2263A>C (p.Ser755Arg) c.2204A>C c.2227A>C (p.Ser743Arg) c.1978A>C (p.Ser660Arg) c.1886A>C (n.1886A>C) n.2412A>C c.2236A>C (p.Ser746Arg) | |
4 | g.6302022A>G | CA356178174 | WFS1 | c.2263A>G (p.Ser755Gly) c.2204A>G c.2227A>G (p.Ser743Gly) c.1978A>G (p.Ser660Gly) c.1886A>G (n.1886A>G) n.2412A>G c.2236A>G (p.Ser746Gly) | gnomAD v4 |
4 | g.6302022A>T | CA356178175 | WFS1 | c.2263A>T (p.Ser755Cys) c.2204A>T c.2227A>T (p.Ser743Cys) c.1978A>T (p.Ser660Cys) c.1886A>T (n.1886A>T) n.2412A>T c.2236A>T (p.Ser746Cys) | |
4 | g.6302023G>A | CA356178178 | WFS1 | c.2264G>A (p.Ser755Asn) c.2205G>A c.2228G>A (p.Ser743Asn) c.1979G>A (p.Ser660Asn) c.1887G>A (n.1887G>A) n.2413G>A c.2237G>A (p.Ser746Asn) | |
4 | g.6302023G>C | CA356178177 | WFS1 | c.2264G>C (p.Ser755Thr) c.2205G>C c.2228G>C (p.Ser743Thr) c.1979G>C (p.Ser660Thr) c.1887G>C (n.1887G>C) n.2413G>C c.2237G>C (p.Ser746Thr) | |
4 | g.6302023G>T | CA356178176 | WFS1 | c.2264G>T (p.Ser755Ile) c.2205G>T c.2228G>T (p.Ser743Ile) c.1979G>T (p.Ser660Ile) c.1887G>T (n.1887G>T) n.2413G>T c.2237G>T (p.Ser746Ile) | |
4 | g.6302024C>A | CA356178179 | WFS1 | c.2265C>A (p.Ser755Arg) c.2206C>A c.2229C>A (p.Ser743Arg) c.1980C>A (p.Ser660Arg) c.1888C>A (n.1888C>A) n.2414C>A c.2238C>A (p.Ser746Arg) | |
4 | g.6302024C= | CA1435772226 | WFS1 | c.2265C= (p.Ser755=) c.2206C= c.2229C= (p.Ser743=) c.1980C= (p.Ser660=) c.1888C= (n.1888C=) n.2414C= c.2238C= (p.Ser746=) | |
4 | g.6302024C>G | CA356178180 | WFS1 | c.2265C>G (p.Ser755Arg) c.2206C>G c.2229C>G (p.Ser743Arg) c.1980C>G (p.Ser660Arg) c.1888C>G (n.1888C>G) n.2414C>G c.2238C>G (p.Ser746Arg) | |
4 | g.6302024C>T | CA2839655 | WFS1 | c.2265C>T (p.Ser755=) c.2206C>T c.2229C>T (p.Ser743=) c.1980C>T (p.Ser660=) c.1888C>T (n.1888C>T) n.2414C>T c.2238C>T (p.Ser746=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.6302025C>A | CA356178181 | WFS1 | c.2266C>A (p.Pro756Thr) c.2207C>A c.2230C>A (p.Pro744Thr) c.1981C>A (p.Pro661Thr) c.1889C>A (n.1889C>A) n.2415C>A c.2239C>A (p.Pro747Thr) | |
4 | g.6302025C= | CA1435772227 | WFS1 | c.2266C= (p.Pro756=) c.2207C= c.2230C= (p.Pro744=) c.1981C= (p.Pro661=) c.1889C= (n.1889C=) n.2415C= c.2239C= (p.Pro747=) | |
4 | g.6302025C>G | CA356178182 | WFS1 | c.2266C>G (p.Pro756Ala) c.2207C>G c.2230C>G (p.Pro744Ala) c.1981C>G (p.Pro661Ala) c.1889C>G (n.1889C>G) n.2415C>G c.2239C>G (p.Pro747Ala) | |
4 | g.6302025C>T | CA356178183 | WFS1 | c.2266C>T (p.Pro756Ser) c.2207C>T c.2230C>T (p.Pro744Ser) c.1981C>T (p.Pro661Ser) c.1889C>T (n.1889C>T) n.2415C>T c.2239C>T (p.Pro747Ser) | dbSNP gnomAD v4 |
4 | g.6302026C>A | CA356178184 | WFS1 | c.2267C>A (p.Pro756His) c.2208C>A c.2231C>A (p.Pro744His) c.1982C>A (p.Pro661His) c.1890C>A (n.1890C>A) n.2416C>A c.2240C>A (p.Pro747His) | |
4 | g.6302026C= | CA1435772230 | WFS1 | c.2267C= (p.Pro756=) c.2208C= c.2231C= (p.Pro744=) c.1982C= (p.Pro661=) c.1890C= (n.1890C=) n.2416C= c.2240C= (p.Pro747=) | |
4 | g.6302026C>G | CA356178185 | WFS1 | c.2267C>G (p.Pro756Arg) c.2208C>G c.2231C>G (p.Pro744Arg) c.1982C>G (p.Pro661Arg) c.1890C>G (n.1890C>G) n.2416C>G c.2240C>G (p.Pro747Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302026C>T | CA356178186 | WFS1 | c.2267C>T (p.Pro756Leu) c.2208C>T c.2231C>T (p.Pro744Leu) c.1982C>T (p.Pro661Leu) c.1890C>T (n.1890C>T) n.2416C>T c.2240C>T (p.Pro747Leu) | gnomAD v4 |
4 | g.6302027T>A | CA438368750 | WFS1 | c.2268T>A (p.Pro756=) c.2209T>A c.2232T>A (p.Pro744=) c.1983T>A (p.Pro661=) c.1891T>A (n.1891T>A) n.2417T>A c.2241T>A (p.Pro747=) | |
4 | g.6302027T>C | CA438368752 | WFS1 | c.2268T>C (p.Pro756=) c.2209T>C c.2232T>C (p.Pro744=) c.1983T>C (p.Pro661=) c.1891T>C (n.1891T>C) n.2417T>C c.2241T>C (p.Pro747=) | |
4 | g.6302027T>G | CA2839656 | WFS1 | c.2268T>G (p.Pro756=) c.2209T>G c.2232T>G (p.Pro744=) c.1983T>G (p.Pro661=) c.1891T>G (n.1891T>G) n.2417T>G c.2241T>G (p.Pro747=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302027T= | CA1435772233 | WFS1 | c.2268T= (p.Pro756=) c.2209T= c.2232T= (p.Pro744=) c.1983T= (p.Pro661=) c.1891T= (n.1891T=) n.2417T= c.2241T= (p.Pro747=) | |
4 | g.6302028G>A | CA325142 | WFS1 | c.2269G>A (p.Gly757Ser) c.2210G>A c.2233G>A (p.Gly745Ser) c.1984G>A (p.Gly662Ser) c.1892G>A (n.1892G>A) n.2418G>A c.2242G>A (p.Gly748Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302028G>C | CA356178187 | WFS1 | c.2269G>C (p.Gly757Arg) c.2210G>C c.2233G>C (p.Gly745Arg) c.1984G>C (p.Gly662Arg) c.1892G>C (n.1892G>C) n.2418G>C c.2242G>C (p.Gly748Arg) | gnomAD v4 |
4 | g.6302028G= | CA1435772236 | WFS1 | c.2269G= (p.Gly757=) c.2210G= c.2233G= (p.Gly745=) c.1984G= (p.Gly662=) c.1892G= (n.1892G=) n.2418G= c.2242G= (p.Gly748=) | |
4 | g.6302028G>T | CA356178188 | WFS1 | c.2269G>T (p.Gly757Cys) c.2210G>T c.2233G>T (p.Gly745Cys) c.1984G>T (p.Gly662Cys) c.1892G>T (n.1892G>T) n.2418G>T c.2242G>T (p.Gly748Cys) | |
4 | g.6302029G>A | CA356178191 | WFS1 | c.2270G>A (p.Gly757Asp) c.2211G>A c.2234G>A (p.Gly745Asp) c.1985G>A (p.Gly662Asp) c.1893G>A (n.1893G>A) n.2419G>A c.2243G>A (p.Gly748Asp) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302029G>C | CA356178189 | WFS1 | c.2270G>C (p.Gly757Ala) c.2211G>C c.2234G>C (p.Gly745Ala) c.1985G>C (p.Gly662Ala) c.1893G>C (n.1893G>C) n.2419G>C c.2243G>C (p.Gly748Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302029G= | CA1435772238 | WFS1 | c.2270G= (p.Gly757=) c.2211G= c.2234G= (p.Gly745=) c.1985G= (p.Gly662=) c.1893G= (n.1893G=) n.2419G= c.2243G= (p.Gly748=) | |
4 | g.6302029G>T | CA356178190 | WFS1 | c.2270G>T (p.Gly757Val) c.2211G>T c.2234G>T (p.Gly745Val) c.1985G>T (p.Gly662Val) c.1893G>T (n.1893G>T) n.2419G>T c.2243G>T (p.Gly748Val) | |
4 | g.6302030C>A | CA438368763 | WFS1 | c.2271C>A (p.Gly757=) c.2212C>A c.2235C>A (p.Gly745=) c.1986C>A (p.Gly662=) c.1894C>A (n.1894C>A) n.2420C>A c.2244C>A (p.Gly748=) | |
4 | g.6302030C= | CA1435772240 | WFS1 | c.2271C= (p.Gly757=) c.2212C= c.2235C= (p.Gly745=) c.1986C= (p.Gly662=) c.1894C= (n.1894C=) n.2420C= c.2244C= (p.Gly748=) | |
4 | g.6302030C>G | CA438368761 | WFS1 | c.2271C>G (p.Gly757=) c.2212C>G c.2235C>G (p.Gly745=) c.1986C>G (p.Gly662=) c.1894C>G (n.1894C>G) n.2420C>G c.2244C>G (p.Gly748=) | gnomAD v4 |
4 | g.6302030C>T | CA2839657 | WFS1 | c.2271C>T (p.Gly757=) c.2212C>T c.2235C>T (p.Gly745=) c.1986C>T (p.Gly662=) c.1894C>T (n.1894C>T) n.2420C>T c.2244C>T (p.Gly748=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302031A>C | CA356178194 | WFS1 | c.2272A>C (p.Asn758His) c.2213A>C c.2236A>C (p.Asn746His) c.1987A>C (p.Asn663His) c.1895A>C (n.1895A>C) n.2421A>C c.2245A>C (p.Asn749His) | |
4 | g.6302031A>G | CA356178192 | WFS1 | c.2272A>G (p.Asn758Asp) c.2213A>G c.2236A>G (p.Asn746Asp) c.1987A>G (p.Asn663Asp) c.1895A>G (n.1895A>G) n.2421A>G c.2245A>G (p.Asn749Asp) | |
4 | g.6302031A>T | CA356178193 | WFS1 | c.2272A>T (p.Asn758Tyr) c.2213A>T c.2236A>T (p.Asn746Tyr) c.1987A>T (p.Asn663Tyr) c.1895A>T (n.1895A>T) n.2421A>T c.2245A>T (p.Asn749Tyr) | |
4 | g.6302032A>C | CA356178195 | WFS1 | c.2273A>C (p.Asn758Thr) c.2214A>C c.2237A>C (p.Asn746Thr) c.1988A>C (p.Asn663Thr) c.1896A>C (n.1896A>C) n.2422A>C c.2246A>C (p.Asn749Thr) | |
4 | g.6302032A>G | CA356178196 | WFS1 | c.2273A>G (p.Asn758Ser) c.2214A>G c.2237A>G (p.Asn746Ser) c.1988A>G (p.Asn663Ser) c.1896A>G (n.1896A>G) n.2422A>G c.2246A>G (p.Asn749Ser) | ClinVar dbSNP gnomAD v4 |
4 | g.6302032A>T | CA356178197 | WFS1 | c.2273A>T (p.Asn758Ile) c.2214A>T c.2237A>T (p.Asn746Ile) c.1988A>T (p.Asn663Ile) c.1896A>T (n.1896A>T) n.2422A>T c.2246A>T (p.Asn749Ile) | |
4 | g.6302033C>A | CA356178198 | WFS1 | c.2274C>A (p.Asn758Lys) c.2215C>A c.2238C>A (p.Asn746Lys) c.1989C>A (p.Asn663Lys) c.1897C>A (n.1897C>A) n.2423C>A c.2247C>A (p.Asn749Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302033C= | CA1435772241 | WFS1 | c.2274C= (p.Asn758=) c.2215C= c.2238C= (p.Asn746=) c.1989C= (p.Asn663=) c.1897C= (n.1897C=) n.2423C= c.2247C= (p.Asn749=) | |
4 | g.6302033C>G | CA356178199 | WFS1 | c.2274C>G (p.Asn758Lys) c.2215C>G c.2238C>G (p.Asn746Lys) c.1989C>G (p.Asn663Lys) c.1897C>G (n.1897C>G) n.2423C>G c.2247C>G (p.Asn749Lys) | |
4 | g.6302033C>T | CA438368767 | WFS1 | c.2274C>T (p.Asn758=) c.2215C>T c.2238C>T (p.Asn746=) c.1989C>T (p.Asn663=) c.1897C>T (n.1897C>T) n.2423C>T c.2247C>T (p.Asn749=) | gnomAD v4 |
4 | g.6302034A= | CA1435772243 | WFS1 | c.2275A= (p.Thr759=) c.2216A= c.2239A= (p.Thr747=) c.1990A= (p.Thr664=) c.1898A= (n.1898A=) n.2424A= c.2248A= (p.Thr750=) | |
4 | g.6302034A>C | CA356178200 | WFS1 | c.2275A>C (p.Thr759Pro) c.2216A>C c.2239A>C (p.Thr747Pro) c.1990A>C (p.Thr664Pro) c.1898A>C (n.1898A>C) n.2424A>C c.2248A>C (p.Thr750Pro) | dbSNP |
4 | g.6302034A>G | CA356178201 | WFS1 | c.2275A>G (p.Thr759Ala) c.2216A>G c.2239A>G (p.Thr747Ala) c.1990A>G (p.Thr664Ala) c.1898A>G (n.1898A>G) n.2424A>G c.2248A>G (p.Thr750Ala) | gnomAD v4 |
4 | g.6302034A>T | CA356178202 | WFS1 | c.2275A>T (p.Thr759Ser) c.2216A>T c.2239A>T (p.Thr747Ser) c.1990A>T (p.Thr664Ser) c.1898A>T (n.1898A>T) n.2424A>T c.2248A>T (p.Thr750Ser) | |
4 | g.6302035C>A | CA356178203 | WFS1 | c.2276C>A (p.Thr759Asn) c.2217C>A c.2240C>A (p.Thr747Asn) c.1991C>A (p.Thr664Asn) c.1899C>A (n.1899C>A) n.2425C>A c.2249C>A (p.Thr750Asn) | |
4 | g.6302035C>G | CA356178204 | WFS1 | c.2276C>G (p.Thr759Ser) c.2217C>G c.2240C>G (p.Thr747Ser) c.1991C>G (p.Thr664Ser) c.1899C>G (n.1899C>G) n.2425C>G c.2249C>G (p.Thr750Ser) | |
4 | g.6302035C>T | CA356178205 | WFS1 | c.2276C>T (p.Thr759Ile) c.2217C>T c.2240C>T (p.Thr747Ile) c.1991C>T (p.Thr664Ile) c.1899C>T (n.1899C>T) n.2425C>T c.2249C>T (p.Thr750Ile) | gnomAD v4 |
4 | g.6302036C>A | CA438368772 | WFS1 | c.2277C>A (p.Thr759=) c.2218C>A c.2241C>A (p.Thr747=) c.1992C>A (p.Thr664=) c.1900C>A (n.1900C>A) n.2426C>A c.2250C>A (p.Thr750=) | |
4 | g.6302036C= | CA1435772245 | WFS1 | c.2277C= (p.Thr759=) c.2218C= c.2241C= (p.Thr747=) c.1992C= (p.Thr664=) c.1900C= (n.1900C=) n.2426C= c.2250C= (p.Thr750=) | |
4 | g.6302036C>G | CA438368774 | WFS1 | c.2277C>G (p.Thr759=) c.2218C>G c.2241C>G (p.Thr747=) c.1992C>G (p.Thr664=) c.1900C>G (n.1900C>G) n.2426C>G c.2250C>G (p.Thr750=) | |
4 | g.6302036C>T | CA438368773 | WFS1 | c.2277C>T (p.Thr759=) c.2218C>T c.2241C>T (p.Thr747=) c.1992C>T (p.Thr664=) c.1900C>T (n.1900C>T) n.2426C>T c.2250C>T (p.Thr750=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302037T>A | CA356178208 | WFS1 | c.2278T>A (p.Ser760Thr) c.2219T>A c.2242T>A (p.Ser748Thr) c.1993T>A (p.Ser665Thr) c.1901T>A (n.1901T>A) n.2427T>A c.2251T>A (p.Ser751Thr) | |
4 | g.6302037T>C | CA356178207 | WFS1 | c.2278T>C (p.Ser760Pro) c.2219T>C c.2242T>C (p.Ser748Pro) c.1993T>C (p.Ser665Pro) c.1901T>C (n.1901T>C) n.2427T>C c.2251T>C (p.Ser751Pro) | |
4 | g.6302037T>G | CA356178206 | WFS1 | c.2278T>G (p.Ser760Ala) c.2219T>G c.2242T>G (p.Ser748Ala) c.1993T>G (p.Ser665Ala) c.1901T>G (n.1901T>G) n.2427T>G c.2251T>G (p.Ser751Ala) | |
4 | g.6302038C>A | CA356178209 | WFS1 | c.2279C>A (p.Ser760Tyr) c.2220C>A c.2243C>A (p.Ser748Tyr) c.1994C>A (p.Ser665Tyr) c.1902C>A (n.1902C>A) n.2428C>A c.2252C>A (p.Ser751Tyr) | |
4 | g.6302038C= | CA1435772247 | WFS1 | c.2279C= (p.Ser760=) c.2220C= c.2243C= (p.Ser748=) c.1994C= (p.Ser665=) c.1902C= (n.1902C=) n.2428C= c.2252C= (p.Ser751=) | |
4 | g.6302038C>G | CA356178210 | WFS1 | c.2279C>G (p.Ser760Cys) c.2220C>G c.2243C>G (p.Ser748Cys) c.1994C>G (p.Ser665Cys) c.1902C>G (n.1902C>G) n.2428C>G c.2252C>G (p.Ser751Cys) | |
4 | g.6302038C>T | CA356178211 | WFS1 | c.2279C>T (p.Ser760Phe) c.2220C>T c.2243C>T (p.Ser748Phe) c.1994C>T (p.Ser665Phe) c.1902C>T (n.1902C>T) n.2428C>T c.2252C>T (p.Ser751Phe) | dbSNP |
4 | g.6302039dup | CA2586973648 | WFS1 | c.2280dup (p.Thr761HisfsTer10) c.2221dup c.2244dup (p.Thr749HisfsTer10) c.1995dup (p.Thr666HisfsTer10) c.1903dup (n.1903dup) n.2429dup c.2253dup (p.Thr752HisfsTer10) | |
4 | g.6302039C>A | CA438368780 | WFS1 | c.2280C>A (p.Ser760=) c.2221C>A c.2244C>A (p.Ser748=) c.1995C>A (p.Ser665=) c.1903C>A (n.1903C>A) n.2429C>A c.2253C>A (p.Ser751=) | |
4 | g.6302039C= | CA1435772248 | WFS1 | c.2280C= (p.Ser760=) c.2221C= c.2244C= (p.Ser748=) c.1995C= (p.Ser665=) c.1903C= (n.1903C=) n.2429C= c.2253C= (p.Ser751=) | |
4 | g.6302039C>G | CA438368781 | WFS1 | c.2280C>G (p.Ser760=) c.2221C>G c.2244C>G (p.Ser748=) c.1995C>G (p.Ser665=) c.1903C>G (n.1903C>G) n.2429C>G c.2253C>G (p.Ser751=) | |
4 | g.6302039C>T | CA438368782 | WFS1 | c.2280C>T (p.Ser760=) c.2221C>T c.2244C>T (p.Ser748=) c.1995C>T (p.Ser665=) c.1903C>T (n.1903C>T) n.2429C>T c.2253C>T (p.Ser751=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302040A= | CA1435772249 | WFS1 | c.2281A= (p.Thr761=) c.2222A= c.2245A= (p.Thr749=) c.1996A= (p.Thr666=) c.1904A= (n.1904A=) n.2430A= c.2254A= (p.Thr752=) | |
4 | g.6302040A>C | CA356178212 | WFS1 | c.2281A>C (p.Thr761Pro) c.2222A>C c.2245A>C (p.Thr749Pro) c.1996A>C (p.Thr666Pro) c.1904A>C (n.1904A>C) n.2430A>C c.2254A>C (p.Thr752Pro) | dbSNP gnomAD v4 |
4 | g.6302040A>G | CA356178213 | WFS1 | c.2281A>G (p.Thr761Ala) c.2222A>G c.2245A>G (p.Thr749Ala) c.1996A>G (p.Thr666Ala) c.1904A>G (n.1904A>G) n.2430A>G c.2254A>G (p.Thr752Ala) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302040A>T | CA356178214 | WFS1 | c.2281A>T (p.Thr761Ser) c.2222A>T c.2245A>T (p.Thr749Ser) c.1996A>T (p.Thr666Ser) c.1904A>T (n.1904A>T) n.2430A>T c.2254A>T (p.Thr752Ser) | |
4 | g.6302041C>A | CA356178215 | WFS1 | c.2282C>A (p.Thr761Lys) c.2223C>A c.2246C>A (p.Thr749Lys) c.1997C>A (p.Thr666Lys) c.1905C>A (n.1905C>A) n.2431C>A c.2255C>A (p.Thr752Lys) | gnomAD v4 |
4 | g.6302041C= | CA1435772251 | WFS1 | c.2282C= (p.Thr761=) c.2223C= c.2246C= (p.Thr749=) c.1997C= (p.Thr666=) c.1905C= (n.1905C=) n.2431C= c.2255C= (p.Thr752=) | |
4 | g.6302041C>G | CA2839659 | WFS1 | c.2282C>G (p.Thr761Arg) c.2223C>G c.2246C>G (p.Thr749Arg) c.1997C>G (p.Thr666Arg) c.1905C>G (n.1905C>G) n.2431C>G c.2255C>G (p.Thr752Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 |
4 | g.6302041C>T | CA2839658 | WFS1 | c.2282C>T (p.Thr761Met) c.2223C>T c.2246C>T (p.Thr749Met) c.1997C>T (p.Thr666Met) c.1905C>T (n.1905C>T) n.2431C>T c.2255C>T (p.Thr752Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302042G>A | CA282580 | WFS1 | c.2283G>A (p.Thr761=) c.2224G>A c.2247G>A (p.Thr749=) c.1998G>A (p.Thr666=) c.1906G>A (n.1906G>A) n.2432G>A c.2256G>A (p.Thr752=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302042G>C | CA438368789 | WFS1 | c.2283G>C (p.Thr761=) c.2224G>C c.2247G>C (p.Thr749=) c.1998G>C (p.Thr666=) c.1906G>C (n.1906G>C) n.2432G>C c.2256G>C (p.Thr752=) | |
4 | g.6302042G= | CA1435772253 | WFS1 | c.2283G= (p.Thr761=) c.2224G= c.2247G= (p.Thr749=) c.1998G= (p.Thr666=) c.1906G= (n.1906G=) n.2432G= c.2256G= (p.Thr752=) | |
4 | g.6302042G>T | CA438368790 | WFS1 | c.2283G>T (p.Thr761=) c.2224G>T c.2247G>T (p.Thr749=) c.1998G>T (p.Thr666=) c.1906G>T (n.1906G>T) n.2432G>T c.2256G>T (p.Thr752=) | gnomAD v4 |
4 | g.6302043dup | CA2669843452 | WFS1 | c.2284dup (p.Ala762GlyfsTer9) c.2225dup c.2248dup (p.Ala750GlyfsTer9) c.1999dup (p.Ala667GlyfsTer9) c.1907dup (n.1907dup) n.2433dup c.2257dup (p.Ala753GlyfsTer9) | gnomAD v4 |
4 | g.6302043G>A | CA2839660 | WFS1 | c.2284G>A (p.Ala762Thr) c.2225G>A c.2248G>A (p.Ala750Thr) c.1999G>A (p.Ala667Thr) c.1907G>A (n.1907G>A) n.2433G>A c.2257G>A (p.Ala753Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302043G>C | CA356178216 | WFS1 | c.2284G>C (p.Ala762Pro) c.2225G>C c.2248G>C (p.Ala750Pro) c.1999G>C (p.Ala667Pro) c.1907G>C (n.1907G>C) n.2433G>C c.2257G>C (p.Ala753Pro) | |
4 | g.6302043G= | CA1435772254 | WFS1 | c.2284G= (p.Ala762=) c.2225G= c.2248G= (p.Ala750=) c.1999G= (p.Ala667=) c.1907G= (n.1907G=) n.2433G= c.2257G= (p.Ala753=) | |
4 | g.6302043G>T | CA356178217 | WFS1 | c.2284G>T (p.Ala762Ser) c.2225G>T c.2248G>T (p.Ala750Ser) c.1999G>T (p.Ala667Ser) c.1907G>T (n.1907G>T) n.2433G>T c.2257G>T (p.Ala753Ser) | dbSNP gnomAD v4 |
4 | g.6302044C>A | CA356178219 | WFS1 | c.2285C>A (p.Ala762Asp) c.2226C>A c.2249C>A (p.Ala750Asp) c.2000C>A (p.Ala667Asp) c.1908C>A (n.1908C>A) n.2434C>A c.2258C>A (p.Ala753Asp) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302044C= | CA1435772255 | WFS1 | c.2285C= (p.Ala762=) c.2226C= c.2249C= (p.Ala750=) c.2000C= (p.Ala667=) c.1908C= (n.1908C=) n.2434C= c.2258C= (p.Ala753=) | |
4 | g.6302044C>G | CA356178220 | WFS1 | c.2285C>G (p.Ala762Gly) c.2226C>G c.2249C>G (p.Ala750Gly) c.2000C>G (p.Ala667Gly) c.1908C>G (n.1908C>G) n.2434C>G c.2258C>G (p.Ala753Gly) | |
4 | g.6302044C>T | CA356178218 | WFS1 | c.2285C>T (p.Ala762Val) c.2226C>T c.2249C>T (p.Ala750Val) c.2000C>T (p.Ala667Val) c.1908C>T (n.1908C>T) n.2434C>T c.2258C>T (p.Ala753Val) | ClinVar |
4 | g.6302045C>A | CA438368793 | WFS1 | c.2286C>A (p.Ala762=) c.2227C>A c.2250C>A (p.Ala750=) c.2001C>A (p.Ala667=) c.1909C>A (n.1909C>A) n.2435C>A c.2259C>A (p.Ala753=) | ClinVar dbSNP |
4 | g.6302045C= | CA1435772258 | WFS1 | c.2286C= (p.Ala762=) c.2227C= c.2250C= (p.Ala750=) c.2001C= (p.Ala667=) c.1909C= (n.1909C=) n.2435C= c.2259C= (p.Ala753=) | |
4 | g.6302045C>G | CA2839662 | WFS1 | c.2286C>G (p.Ala762=) c.2227C>G c.2250C>G (p.Ala750=) c.2001C>G (p.Ala667=) c.1909C>G (n.1909C>G) n.2435C>G c.2259C>G (p.Ala753=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302045C>T | CA2839661 | WFS1 | c.2286C>T (p.Ala762=) c.2227C>T c.2250C>T (p.Ala750=) c.2001C>T (p.Ala667=) c.1909C>T (n.1909C>T) n.2435C>T c.2259C>T (p.Ala753=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302045_6302048delinsCGAG | CA1435772260 | WFS1 | c.2286_2289delinsCGAG (p.Ala762=) c.2227_2230delinsCGAG c.2250_2253delinsCGAG (p.Ala750=) c.2001_2004delinsCGAG (p.Ala667=) c.1909_1912delinsCGAG (n.1909_1912delinsCGAG) n.2435_2438delinsCGAG c.2259_2262delinsCGAG (p.Ala753=) | |
4 | g.6302046G>A | CA2839664 | WFS1 | c.2287G>A (p.Glu763Lys) c.2228G>A c.2251G>A (p.Glu751Lys) c.2002G>A (p.Glu668Lys) c.1910G>A (n.1910G>A) n.2436G>A c.2260G>A (p.Glu754Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302046G>C | CA2839663 | WFS1 | c.2287G>C (p.Glu763Gln) c.2228G>C c.2251G>C (p.Glu751Gln) c.2002G>C (p.Glu668Gln) c.1910G>C (n.1910G>C) n.2436G>C c.2260G>C (p.Glu754Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302046G= | CA1435772262 | WFS1 | c.2287G= (p.Glu763=) c.2228G= c.2251G= (p.Glu751=) c.2002G= (p.Glu668=) c.1910G= (n.1910G=) n.2436G= c.2260G= (p.Glu754=) | |
4 | g.6302046G>T | CA356178221 | WFS1 | c.2287G>T (p.Glu763Ter) c.2228G>T c.2251G>T (p.Glu751Ter) c.2002G>T (p.Glu668Ter) c.1910G>T (n.1910G>T) n.2436G>T c.2260G>T (p.Glu754Ter) | gnomAD v4 |
4 | g.6302052_6302054del | CA549707941 | WFS1 | c.2293_2295del (p.Glu765del) c.2234_2236del c.2257_2259del (p.Glu753del) c.2008_2010del (p.Glu670del) c.1916_1918del (n.1916_1918del) n.2442_2444del c.2266_2268del (p.Glu756del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302047A= | CA1435772265 | WFS1 | c.2288A= (p.Glu763=) c.2229A= c.2252A= (p.Glu751=) c.2003A= (p.Glu668=) c.1911A= (n.1911A=) n.2437A= c.2261A= (p.Glu754=) | |
4 | g.6302047A>C | CA356178222 | WFS1 | c.2288A>C (p.Glu763Ala) c.2229A>C c.2252A>C (p.Glu751Ala) c.2003A>C (p.Glu668Ala) c.1911A>C (n.1911A>C) n.2437A>C c.2261A>C (p.Glu754Ala) | |
4 | g.6302047A>G | CA356178223 | WFS1 | c.2288A>G (p.Glu763Gly) c.2229A>G c.2252A>G (p.Glu751Gly) c.2003A>G (p.Glu668Gly) c.1911A>G (n.1911A>G) n.2437A>G c.2261A>G (p.Glu754Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302047A>T | CA356178224 | WFS1 | c.2288A>T (p.Glu763Val) c.2229A>T c.2252A>T (p.Glu751Val) c.2003A>T (p.Glu668Val) c.1911A>T (n.1911A>T) n.2437A>T c.2261A>T (p.Glu754Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302048G>A | CA438368798 | WFS1 | c.2289G>A (p.Glu763=) c.2230G>A c.2253G>A (p.Glu751=) c.2004G>A (p.Glu668=) c.1912G>A (n.1912G>A) n.2438G>A c.2262G>A (p.Glu754=) | |
4 | g.6302048G>C | CA356178225 | WFS1 | c.2289G>C (p.Glu763Asp) c.2230G>C c.2253G>C (p.Glu751Asp) c.2004G>C (p.Glu668Asp) c.1912G>C (n.1912G>C) n.2438G>C c.2262G>C (p.Glu754Asp) | |
4 | g.6302048G>T | CA356178226 | WFS1 | c.2289G>T (p.Glu763Asp) c.2230G>T c.2253G>T (p.Glu751Asp) c.2004G>T (p.Glu668Asp) c.1912G>T (n.1912G>T) n.2438G>T c.2262G>T (p.Glu754Asp) | |
4 | g.6302049G>A | CA356178227 | WFS1 | c.2290G>A (p.Glu764Lys) c.2231G>A c.2254G>A (p.Glu752Lys) c.2005G>A (p.Glu669Lys) c.1913G>A (n.1913G>A) n.2439G>A c.2263G>A (p.Glu755Lys) | |
4 | g.6302049G>C | CA356178228 | WFS1 | c.2290G>C (p.Glu764Gln) c.2231G>C c.2254G>C (p.Glu752Gln) c.2005G>C (p.Glu669Gln) c.1913G>C (n.1913G>C) n.2439G>C c.2263G>C (p.Glu755Gln) | |
4 | g.6302049G= | CA1435772266 | WFS1 | c.2290G= (p.Glu764=) c.2231G= c.2254G= (p.Glu752=) c.2005G= (p.Glu669=) c.1913G= (n.1913G=) n.2439G= c.2263G= (p.Glu755=) | |
4 | g.6302049G>T | CA319834 | WFS1 | c.2290G>T (p.Glu764Ter) c.2231G>T c.2254G>T (p.Glu752Ter) c.2005G>T (p.Glu669Ter) c.1913G>T (n.1913G>T) n.2439G>T c.2263G>T (p.Glu755Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302050A>C | CA356178229 | WFS1 | c.2291A>C (p.Glu764Ala) c.2232A>C c.2255A>C (p.Glu752Ala) c.2006A>C (p.Glu669Ala) c.1914A>C (n.1914A>C) n.2440A>C c.2264A>C (p.Glu755Ala) | |
4 | g.6302050A>G | CA356178231 | WFS1 | c.2291A>G (p.Glu764Gly) c.2232A>G c.2255A>G (p.Glu752Gly) c.2006A>G (p.Glu669Gly) c.1914A>G (n.1914A>G) n.2440A>G c.2264A>G (p.Glu755Gly) | |
4 | g.6302050A>T | CA356178230 | WFS1 | c.2291A>T (p.Glu764Val) c.2232A>T c.2255A>T (p.Glu752Val) c.2006A>T (p.Glu669Val) c.1914A>T (n.1914A>T) n.2440A>T c.2264A>T (p.Glu755Val) | |
4 | g.6302051G>A | CA438368804 | WFS1 | c.2292G>A (p.Glu764=) c.2233G>A c.2256G>A (p.Glu752=) c.2007G>A (p.Glu669=) c.1915G>A (n.1915G>A) n.2441G>A c.2265G>A (p.Glu755=) | |
4 | g.6302051G>C | CA356178232 | WFS1 | c.2292G>C (p.Glu764Asp) c.2233G>C c.2256G>C (p.Glu752Asp) c.2007G>C (p.Glu669Asp) c.1915G>C (n.1915G>C) n.2441G>C c.2265G>C (p.Glu755Asp) | |
4 | g.6302051G= | CA1435772267 | WFS1 | c.2292G= (p.Glu764=) c.2233G= c.2256G= (p.Glu752=) c.2007G= (p.Glu669=) c.1915G= (n.1915G=) n.2441G= c.2265G= (p.Glu755=) | |
4 | g.6302051G>T | CA356178233 | WFS1 | c.2292G>T (p.Glu764Asp) c.2233G>T c.2256G>T (p.Glu752Asp) c.2007G>T (p.Glu669Asp) c.1915G>T (n.1915G>T) n.2441G>T c.2265G>T (p.Glu755Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302052G>A | CA356178234 | WFS1 | c.2293G>A (p.Glu765Lys) c.2234G>A c.2257G>A (p.Glu753Lys) c.2008G>A (p.Glu670Lys) c.1916G>A (n.1916G>A) n.2442G>A c.2266G>A (p.Glu756Lys) | dbSNP COSMIC |
4 | g.6302052G>C | CA356178235 | WFS1 | c.2293G>C (p.Glu765Gln) c.2234G>C c.2257G>C (p.Glu753Gln) c.2008G>C (p.Glu670Gln) c.1916G>C (n.1916G>C) n.2442G>C c.2266G>C (p.Glu756Gln) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302052G= | CA1435772269 | WFS1 | c.2293G= (p.Glu765=) c.2234G= c.2257G= (p.Glu753=) c.2008G= (p.Glu670=) c.1916G= (n.1916G=) n.2442G= c.2266G= (p.Glu756=) | |
4 | g.6302052G>T | CA356178236 | WFS1 | c.2293G>T (p.Glu765Ter) c.2234G>T c.2257G>T (p.Glu753Ter) c.2008G>T (p.Glu670Ter) c.1916G>T (n.1916G>T) n.2442G>T c.2266G>T (p.Glu756Ter) | gnomAD v4 |
4 | g.6302053A>C | CA356178237 | WFS1 | c.2294A>C (p.Glu765Ala) c.2235A>C c.2258A>C (p.Glu753Ala) c.2009A>C (p.Glu670Ala) c.1917A>C (n.1917A>C) n.2443A>C c.2267A>C (p.Glu756Ala) | gnomAD v4 |
4 | g.6302053A>G | CA356178238 | WFS1 | c.2294A>G (p.Glu765Gly) c.2235A>G c.2258A>G (p.Glu753Gly) c.2009A>G (p.Glu670Gly) c.1917A>G (n.1917A>G) n.2443A>G c.2267A>G (p.Glu756Gly) | |
4 | g.6302053A>T | CA356178239 | WFS1 | c.2294A>T (p.Glu765Val) c.2235A>T c.2258A>T (p.Glu753Val) c.2009A>T (p.Glu670Val) c.1917A>T (n.1917A>T) n.2443A>T c.2267A>T (p.Glu756Val) | |
4 | g.6302054G>A | CA438368808 | WFS1 | c.2295G>A (p.Glu765=) c.2236G>A c.2259G>A (p.Glu753=) c.2010G>A (p.Glu670=) c.1918G>A (n.1918G>A) n.2444G>A c.2268G>A (p.Glu756=) | |
4 | g.6302054G>C | CA91796991 | WFS1 | c.2295G>C (p.Glu765Asp) c.2236G>C c.2259G>C (p.Glu753Asp) c.2010G>C (p.Glu670Asp) c.1918G>C (n.1918G>C) n.2444G>C c.2268G>C (p.Glu756Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302054G= | CA1435772271 | WFS1 | c.2295G= (p.Glu765=) c.2236G= c.2259G= (p.Glu753=) c.2010G= (p.Glu670=) c.1918G= (n.1918G=) n.2444G= c.2268G= (p.Glu756=) | |
4 | g.6302054G>T | CA356178240 | WFS1 | c.2295G>T (p.Glu765Asp) c.2236G>T c.2259G>T (p.Glu753Asp) c.2010G>T (p.Glu670Asp) c.1918G>T (n.1918G>T) n.2444G>T c.2268G>T (p.Glu756Asp) | |
4 | g.6302055C>A | CA356178243 | WFS1 | c.2296C>A (p.Leu766Ile) c.2237C>A c.2260C>A (p.Leu754Ile) c.2011C>A (p.Leu671Ile) c.1919C>A (n.1919C>A) n.2445C>A c.2269C>A (p.Leu757Ile) | |
4 | g.6302055C= | CA1435772273 | WFS1 | c.2296C= (p.Leu766=) c.2237C= c.2260C= (p.Leu754=) c.2011C= (p.Leu671=) c.1919C= (n.1919C=) n.2445C= c.2269C= (p.Leu757=) | |
4 | g.6302055C>G | CA356178242 | WFS1 | c.2296C>G (p.Leu766Val) c.2237C>G c.2260C>G (p.Leu754Val) c.2011C>G (p.Leu671Val) c.1919C>G (n.1919C>G) n.2445C>G c.2269C>G (p.Leu757Val) | |
4 | g.6302055C>T | CA356178241 | WFS1 | c.2296C>T (p.Leu766Phe) c.2237C>T c.2260C>T (p.Leu754Phe) c.2011C>T (p.Leu671Phe) c.1919C>T (n.1919C>T) n.2445C>T c.2269C>T (p.Leu757Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302057_6302058del | CA2586973649 | WFS1 | c.2298_2299del (p.Cys767SerfsTer3) c.2239_2240del c.2262_2263del (p.Cys755SerfsTer3) c.2013_2014del (p.Cys672SerfsTer3) c.1921_1922del (n.1921_1922del) n.2447_2448del c.2271_2272del (p.Cys758SerfsTer3) | gnomAD v4 |
4 | g.6302056T>A | CA356178245 | WFS1 | c.2297T>A (p.Leu766His) c.2238T>A c.2261T>A (p.Leu754His) c.2012T>A (p.Leu671His) c.1920T>A (n.1920T>A) n.2446T>A c.2270T>A (p.Leu757His) | |
4 | g.6302056T>C | CA356178244 | WFS1 | c.2297T>C (p.Leu766Pro) c.2238T>C c.2261T>C (p.Leu754Pro) c.2012T>C (p.Leu671Pro) c.1920T>C (n.1920T>C) n.2446T>C c.2270T>C (p.Leu757Pro) | |
4 | g.6302056T>G | CA356178246 | WFS1 | c.2297T>G (p.Leu766Arg) c.2238T>G c.2261T>G (p.Leu754Arg) c.2012T>G (p.Leu671Arg) c.1920T>G (n.1920T>G) n.2446T>G c.2270T>G (p.Leu757Arg) | |
4 | g.6302057C>A | CA438368818 | WFS1 | c.2298C>A (p.Leu766=) c.2239C>A c.2262C>A (p.Leu754=) c.2013C>A (p.Leu671=) c.1921C>A (n.1921C>A) n.2447C>A c.2271C>A (p.Leu757=) | |
4 | g.6302057C= | CA1435772274 | WFS1 | c.2298C= (p.Leu766=) c.2239C= c.2262C= (p.Leu754=) c.2013C= (p.Leu671=) c.1921C= (n.1921C=) n.2447C= c.2271C= (p.Leu757=) | |
4 | g.6302057C>G | CA438368813 | WFS1 | c.2298C>G (p.Leu766=) c.2239C>G c.2262C>G (p.Leu754=) c.2013C>G (p.Leu671=) c.1921C>G (n.1921C>G) n.2447C>G c.2271C>G (p.Leu757=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302057C>T | CA438368814 | WFS1 | c.2298C>T (p.Leu766=) c.2239C>T c.2262C>T (p.Leu754=) c.2013C>T (p.Leu671=) c.1921C>T (n.1921C>T) n.2447C>T c.2271C>T (p.Leu757=) | ClinVar dbSNP |
4 | g.6302058T>A | CA356178247 | WFS1 | c.2299T>A (p.Cys767Ser) c.2240T>A c.2263T>A (p.Cys755Ser) c.2014T>A (p.Cys672Ser) c.1922T>A (n.1922T>A) n.2448T>A c.2272T>A (p.Cys758Ser) | gnomAD v4 |
4 | g.6302058T>C | CA276183 | WFS1 | c.2299T>C (p.Cys767Arg) c.2240T>C c.2263T>C (p.Cys755Arg) c.2014T>C (p.Cys672Arg) c.1922T>C (n.1922T>C) n.2448T>C c.2272T>C (p.Cys758Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302058T>G | CA356178248 | WFS1 | c.2299T>G (p.Cys767Gly) c.2240T>G c.2263T>G (p.Cys755Gly) c.2014T>G (p.Cys672Gly) c.1922T>G (n.1922T>G) n.2448T>G c.2272T>G (p.Cys758Gly) | |
4 | g.6302058T= | CA1435772277 | WFS1 | c.2299T= (p.Cys767=) c.2240T= c.2263T= (p.Cys755=) c.2014T= (p.Cys672=) c.1922T= (n.1922T=) n.2448T= c.2272T= (p.Cys758=) | |
4 | g.6302059G>A | CA356178249 | WFS1 | c.2300G>A (p.Cys767Tyr) c.2241G>A c.2264G>A (p.Cys755Tyr) c.2015G>A (p.Cys672Tyr) c.1923G>A (n.1923G>A) n.2449G>A c.2273G>A (p.Cys758Tyr) | |
4 | g.6302059G>C | CA356178250 | WFS1 | c.2300G>C (p.Cys767Ser) c.2241G>C c.2264G>C (p.Cys755Ser) c.2015G>C (p.Cys672Ser) c.1923G>C (n.1923G>C) n.2449G>C c.2273G>C (p.Cys758Ser) | |
4 | g.6302059G>T | CA356178251 | WFS1 | c.2300G>T (p.Cys767Phe) c.2241G>T c.2264G>T (p.Cys755Phe) c.2015G>T (p.Cys672Phe) c.1923G>T (n.1923G>T) n.2449G>T c.2273G>T (p.Cys758Phe) | |
4 | g.6302060T>A | CA356178253 | WFS1 | c.2301T>A (p.Cys767Ter) c.2242T>A c.2265T>A (p.Cys755Ter) c.2016T>A (p.Cys672Ter) c.1924T>A (n.1924T>A) n.2450T>A c.2274T>A (p.Cys758Ter) | |
4 | g.6302060T>C | CA438368824 | WFS1 | c.2301T>C (p.Cys767=) c.2242T>C c.2265T>C (p.Cys755=) c.2016T>C (p.Cys672=) c.1924T>C (n.1924T>C) n.2450T>C c.2274T>C (p.Cys758=) | |
4 | g.6302060T>G | CA356178252 | WFS1 | c.2301T>G (p.Cys767Trp) c.2242T>G c.2265T>G (p.Cys755Trp) c.2016T>G (p.Cys672Trp) c.1924T>G (n.1924T>G) n.2450T>G c.2274T>G (p.Cys758Trp) | |
4 | g.6302061C>A | CA356178254 | WFS1 | c.2302C>A (p.Arg768Ser) c.2243C>A c.2266C>A (p.Arg756Ser) c.2017C>A (p.Arg673Ser) c.1925C>A (n.1925C>A) n.2451C>A c.2275C>A (p.Arg759Ser) | dbSNP gnomAD v2 |
4 | g.6302061C= | CA1435772279 | WFS1 | c.2302C= (p.Arg768=) c.2243C= c.2266C= (p.Arg756=) c.2017C= (p.Arg673=) c.1925C= (n.1925C=) n.2451C= c.2275C= (p.Arg759=) | |
4 | g.6302061C>G | CA356178255 | WFS1 | c.2302C>G (p.Arg768Gly) c.2243C>G c.2266C>G (p.Arg756Gly) c.2017C>G (p.Arg673Gly) c.1925C>G (n.1925C>G) n.2451C>G c.2275C>G (p.Arg759Gly) | |
4 | g.6302061C>T | CA2839665 | WFS1 | c.2302C>T (p.Arg768Cys) c.2243C>T c.2266C>T (p.Arg756Cys) c.2017C>T (p.Arg673Cys) c.1925C>T (n.1925C>T) n.2451C>T c.2275C>T (p.Arg759Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302062G>A | CA91796996 | WFS1 | c.2303G>A (p.Arg768His) c.2244G>A c.2267G>A (p.Arg756His) c.2018G>A (p.Arg673His) c.1926G>A (n.1926G>A) n.2452G>A c.2276G>A (p.Arg759His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302062G>C | CA356178256 | WFS1 | c.2303G>C (p.Arg768Pro) c.2244G>C c.2267G>C (p.Arg756Pro) c.2018G>C (p.Arg673Pro) c.1926G>C (n.1926G>C) n.2452G>C c.2276G>C (p.Arg759Pro) | dbSNP |
4 | g.6302062G= | CA1435772280 | WFS1 | c.2303G= (p.Arg768=) c.2244G= c.2267G= (p.Arg756=) c.2018G= (p.Arg673=) c.1926G= (n.1926G=) n.2452G= c.2276G= (p.Arg759=) | |
4 | g.6302062G>T | CA356178257 | WFS1 | c.2303G>T (p.Arg768Leu) c.2244G>T c.2267G>T (p.Arg756Leu) c.2018G>T (p.Arg673Leu) c.1926G>T (n.1926G>T) n.2452G>T c.2276G>T (p.Arg759Leu) | |
4 | g.6302063C>A | CA438368841 | WFS1 | c.2304C>A (p.Arg768=) c.2245C>A c.2268C>A (p.Arg756=) c.2019C>A (p.Arg673=) c.1927C>A (n.1927C>A) n.2453C>A c.2277C>A (p.Arg759=) | |
4 | g.6302063C>G | CA438368838 | WFS1 | c.2304C>G (p.Arg768=) c.2245C>G c.2268C>G (p.Arg756=) c.2019C>G (p.Arg673=) c.1927C>G (n.1927C>G) n.2453C>G c.2277C>G (p.Arg759=) | gnomAD v4 |
4 | g.6302063C>T | CA438368840 | WFS1 | c.2304C>T (p.Arg768=) c.2245C>T c.2268C>T (p.Arg756=) c.2019C>T (p.Arg673=) c.1927C>T (n.1927C>T) n.2453C>T c.2277C>T (p.Arg759=) | ClinVar gnomAD v4 |
4 | g.6302064C>A | CA2839666 | WFS1 | c.2305C>A (p.Leu769Ile) c.2246C>A c.2269C>A (p.Leu757Ile) c.2020C>A (p.Leu674Ile) c.1928C>A (n.1928C>A) n.2454C>A c.2278C>A (p.Leu760Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302064C= | CA1435772282 | WFS1 | c.2305C= (p.Leu769=) c.2246C= c.2269C= (p.Leu757=) c.2020C= (p.Leu674=) c.1928C= (n.1928C=) n.2454C= c.2278C= (p.Leu760=) | |
4 | g.6302064C>G | CA356178259 | WFS1 | c.2305C>G (p.Leu769Val) c.2246C>G c.2269C>G (p.Leu757Val) c.2020C>G (p.Leu674Val) c.1928C>G (n.1928C>G) n.2454C>G c.2278C>G (p.Leu760Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302064C>T | CA356178258 | WFS1 | c.2305C>T (p.Leu769Phe) c.2246C>T c.2269C>T (p.Leu757Phe) c.2020C>T (p.Leu674Phe) c.1928C>T (n.1928C>T) n.2454C>T c.2278C>T (p.Leu760Phe) | dbSNP gnomAD v4 |
4 | g.6302066_6302112dup | CA2669843454 | WFS1 | c.2307_2353dup (p.Tyr785LeufsTer?) c.2248_2294dup c.2271_2317dup (p.Tyr773LeufsTer?) c.2022_2068dup (p.Tyr690LeufsTer?) c.1930_1976dup (n.1930_1976dup) n.2456_2502dup c.2280_2326dup (p.Tyr776LeufsTer?) | gnomAD v4 |
4 | g.6302065T>A | CA356178260 | WFS1 | c.2306T>A (p.Leu769His) c.2247T>A c.2270T>A (p.Leu757His) c.2021T>A (p.Leu674His) c.1929T>A (n.1929T>A) n.2455T>A c.2279T>A (p.Leu760His) | |
4 | g.6302065T>C | CA356178261 | WFS1 | c.2306T>C (p.Leu769Pro) c.2247T>C c.2270T>C (p.Leu757Pro) c.2021T>C (p.Leu674Pro) c.1929T>C (n.1929T>C) n.2455T>C c.2279T>C (p.Leu760Pro) | |
4 | g.6302065T>G | CA356178262 | WFS1 | c.2306T>G (p.Leu769Arg) c.2247T>G c.2270T>G (p.Leu757Arg) c.2021T>G (p.Leu674Arg) c.1929T>G (n.1929T>G) n.2455T>G c.2279T>G (p.Leu760Arg) | gnomAD v4 |
4 | g.6302066T>A | CA438368845 | WFS1 | c.2307T>A (p.Leu769=) c.2248T>A c.2271T>A (p.Leu757=) c.2022T>A (p.Leu674=) c.1930T>A (n.1930T>A) n.2456T>A c.2280T>A (p.Leu760=) | |
4 | g.6302066T>C | CA438368846 | WFS1 | c.2307T>C (p.Leu769=) c.2248T>C c.2271T>C (p.Leu757=) c.2022T>C (p.Leu674=) c.1930T>C (n.1930T>C) n.2456T>C c.2280T>C (p.Leu760=) | |
4 | g.6302066T>G | CA438368848 | WFS1 | c.2307T>G (p.Leu769=) c.2248T>G c.2271T>G (p.Leu757=) c.2022T>G (p.Leu674=) c.1930T>G (n.1930T>G) n.2456T>G c.2280T>G (p.Leu760=) | gnomAD v4 |
4 | g.6302067A>C | CA356178263 | WFS1 | c.2308A>C (p.Lys770Gln) c.2249A>C c.2272A>C (p.Lys758Gln) c.2023A>C (p.Lys675Gln) c.1931A>C (n.1931A>C) n.2457A>C c.2281A>C (p.Lys761Gln) | gnomAD v4 |
4 | g.6302067A>G | CA356178264 | WFS1 | c.2308A>G (p.Lys770Glu) c.2249A>G c.2272A>G (p.Lys758Glu) c.2023A>G (p.Lys675Glu) c.1931A>G (n.1931A>G) n.2457A>G c.2281A>G (p.Lys761Glu) | dbSNP gnomAD v4 |
4 | g.6302067A>T | CA356178265 | WFS1 | c.2308A>T (p.Lys770Ter) c.2249A>T c.2272A>T (p.Lys758Ter) c.2023A>T (p.Lys675Ter) c.1931A>T (n.1931A>T) n.2457A>T c.2281A>T (p.Lys761Ter) | |
4 | g.6302068A= | CA1435772284 | WFS1 | c.2309A= (p.Lys770=) c.2250A= c.2273A= (p.Lys758=) c.2024A= (p.Lys675=) c.1932A= (n.1932A=) n.2458A= c.2282A= (p.Lys761=) | |
4 | g.6302068A>C | CA356178266 | WFS1 | c.2309A>C (p.Lys770Thr) c.2250A>C c.2273A>C (p.Lys758Thr) c.2024A>C (p.Lys675Thr) c.1932A>C (n.1932A>C) n.2458A>C c.2282A>C (p.Lys761Thr) | |
4 | g.6302068A>G | CA356178267 | WFS1 | c.2309A>G (p.Lys770Arg) c.2250A>G c.2273A>G (p.Lys758Arg) c.2024A>G (p.Lys675Arg) c.1932A>G (n.1932A>G) n.2458A>G c.2282A>G (p.Lys761Arg) | ClinVar |
4 | g.6302068A>T | CA356178268 | WFS1 | c.2309A>T (p.Lys770Met) c.2250A>T c.2273A>T (p.Lys758Met) c.2024A>T (p.Lys675Met) c.1932A>T (n.1932A>T) n.2458A>T c.2282A>T (p.Lys761Met) | ClinVar dbSNP gnomAD v4 |
4 | g.6302069G>A | CA438368852 | WFS1 | c.2310G>A (p.Lys770=) c.2251G>A c.2274G>A (p.Lys758=) c.2025G>A (p.Lys675=) c.1933G>A (n.1933G>A) n.2459G>A c.2283G>A (p.Lys761=) | |
4 | g.6302069G>C | CA356178269 | WFS1 | c.2310G>C (p.Lys770Asn) c.2251G>C c.2274G>C (p.Lys758Asn) c.2025G>C (p.Lys675Asn) c.1933G>C (n.1933G>C) n.2459G>C c.2283G>C (p.Lys761Asn) | |
4 | g.6302069G>T | CA356178270 | WFS1 | c.2310G>T (p.Lys770Asn) c.2251G>T c.2274G>T (p.Lys758Asn) c.2025G>T (p.Lys675Asn) c.1933G>T (n.1933G>T) n.2459G>T c.2283G>T (p.Lys761Asn) | |
4 | g.6302070C>A | CA356178271 | WFS1 | c.2311C>A (p.Leu771Met) c.2252C>A c.2275C>A (p.Leu759Met) c.2026C>A (p.Leu676Met) c.1934C>A (n.1934C>A) n.2460C>A c.2284C>A (p.Leu762Met) | |
4 | g.6302070C= | CA1435772285 | WFS1 | c.2311C= (p.Leu771=) c.2252C= c.2275C= (p.Leu759=) c.2026C= (p.Leu676=) c.1934C= (n.1934C=) n.2460C= c.2284C= (p.Leu762=) | |
4 | g.6302070C>G | CA2839667 | WFS1 | c.2311C>G (p.Leu771Val) c.2252C>G c.2275C>G (p.Leu759Val) c.2026C>G (p.Leu676Val) c.1934C>G (n.1934C>G) n.2460C>G c.2284C>G (p.Leu762Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302070C>T | CA438368856 | WFS1 | c.2311C>T (p.Leu771=) c.2252C>T c.2275C>T (p.Leu759=) c.2026C>T (p.Leu676=) c.1934C>T (n.1934C>T) n.2460C>T c.2284C>T (p.Leu762=) | ClinVar |
4 | g.6302071T>A | CA2839668 | WFS1 | c.2312T>A (p.Leu771Gln) c.2253T>A c.2276T>A (p.Leu759Gln) c.2027T>A (p.Leu676Gln) c.1935T>A (n.1935T>A) n.2461T>A c.2285T>A (p.Leu762Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302071T>C | CA356178272 | WFS1 | c.2312T>C (p.Leu771Pro) c.2253T>C c.2276T>C (p.Leu759Pro) c.2027T>C (p.Leu676Pro) c.1935T>C (n.1935T>C) n.2461T>C c.2285T>C (p.Leu762Pro) | |
4 | g.6302071T>G | CA356178273 | WFS1 | c.2312T>G (p.Leu771Arg) c.2253T>G c.2276T>G (p.Leu759Arg) c.2027T>G (p.Leu676Arg) c.1935T>G (n.1935T>G) n.2461T>G c.2285T>G (p.Leu762Arg) | |
4 | g.6302071T= | CA1435772287 | WFS1 | c.2312T= (p.Leu771=) c.2253T= c.2276T= (p.Leu759=) c.2027T= (p.Leu676=) c.1935T= (n.1935T=) n.2461T= c.2285T= (p.Leu762=) | |
4 | g.6302072G>A | CA438368236 | WFS1 | c.2313G>A (p.Leu771=) c.2254G>A c.2277G>A (p.Leu759=) c.2028G>A (p.Leu676=) c.1936G>A (n.1936G>A) n.2462G>A c.2286G>A (p.Leu762=) | dbSNP gnomAD v2 |
4 | g.6302072G>C | CA438368237 | WFS1 | c.2313G>C (p.Leu771=) c.2254G>C c.2277G>C (p.Leu759=) c.2028G>C (p.Leu676=) c.1936G>C (n.1936G>C) n.2462G>C c.2286G>C (p.Leu762=) | gnomAD v4 |
4 | g.6302072G= | CA1435772289 | WFS1 | c.2313G= (p.Leu771=) c.2254G= c.2277G= (p.Leu759=) c.2028G= (p.Leu676=) c.1936G= (n.1936G=) n.2462G= c.2286G= (p.Leu762=) | |
4 | g.6302072G>T | CA438368238 | WFS1 | c.2313G>T (p.Leu771=) c.2254G>T c.2277G>T (p.Leu759=) c.2028G>T (p.Leu676=) c.1936G>T (n.1936G>T) n.2462G>T c.2286G>T (p.Leu762=) | |
4 | g.6302073C>A | CA356178274 | WFS1 | c.2314C>A (p.Leu772Met) c.2255C>A c.2278C>A (p.Leu760Met) c.2029C>A (p.Leu677Met) c.1937C>A (n.1937C>A) n.2463C>A c.2287C>A (p.Leu763Met) | ClinVar dbSNP gnomAD v4 |
4 | g.6302073C= | CA1435772291 | WFS1 | c.2314C= (p.Leu772=) c.2255C= c.2278C= (p.Leu760=) c.2029C= (p.Leu677=) c.1937C= (n.1937C=) n.2463C= c.2287C= (p.Leu763=) | |
4 | g.6302073C>G | CA356178275 | WFS1 | c.2314C>G (p.Leu772Val) c.2255C>G c.2278C>G (p.Leu760Val) c.2029C>G (p.Leu677Val) c.1937C>G (n.1937C>G) n.2463C>G c.2287C>G (p.Leu763Val) | |
4 | g.6302073C>T | CA438368239 | WFS1 | c.2314C>T (p.Leu772=) c.2255C>T c.2278C>T (p.Leu760=) c.2029C>T (p.Leu677=) c.1937C>T (n.1937C>T) n.2463C>T c.2287C>T (p.Leu763=) | gnomAD v4 |
4 | g.6302074T>A | CA356178276 | WFS1 | c.2315T>A (p.Leu772Gln) c.2256T>A c.2279T>A (p.Leu760Gln) c.2030T>A (p.Leu677Gln) c.1938T>A (n.1938T>A) n.2464T>A c.2288T>A (p.Leu763Gln) | |
4 | g.6302074T>C | CA356178277 | WFS1 | c.2315T>C (p.Leu772Pro) c.2256T>C c.2279T>C (p.Leu760Pro) c.2030T>C (p.Leu677Pro) c.1938T>C (n.1938T>C) n.2464T>C c.2288T>C (p.Leu763Pro) | gnomAD v4 |
4 | g.6302074T>G | CA356178278 | WFS1 | c.2315T>G (p.Leu772Arg) c.2256T>G c.2279T>G (p.Leu760Arg) c.2030T>G (p.Leu677Arg) c.1938T>G (n.1938T>G) n.2464T>G c.2288T>G (p.Leu763Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302074T= | CA1435772293 | WFS1 | c.2315T= (p.Leu772=) c.2256T= c.2279T= (p.Leu760=) c.2030T= (p.Leu677=) c.1938T= (n.1938T=) n.2464T= c.2288T= (p.Leu763=) | |
4 | g.6302075G>A | CA2839669 | WFS1 | c.2316G>A (p.Leu772=) c.2257G>A c.2280G>A (p.Leu760=) c.2031G>A (p.Leu677=) c.1939G>A (n.1939G>A) n.2465G>A c.2289G>A (p.Leu763=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302075G>C | CA438368240 | WFS1 | c.2316G>C (p.Leu772=) c.2257G>C c.2280G>C (p.Leu760=) c.2031G>C (p.Leu677=) c.1939G>C (n.1939G>C) n.2465G>C c.2289G>C (p.Leu763=) | dbSNP |
4 | g.6302075G= | CA1435772294 | WFS1 | c.2316G= (p.Leu772=) c.2257G= c.2280G= (p.Leu760=) c.2031G= (p.Leu677=) c.1939G= (n.1939G=) n.2465G= c.2289G= (p.Leu763=) | |
4 | g.6302075G>T | CA438368241 | WFS1 | c.2316G>T (p.Leu772=) c.2257G>T c.2280G>T (p.Leu760=) c.2031G>T (p.Leu677=) c.1939G>T (n.1939G>T) n.2465G>T c.2289G>T (p.Leu763=) | gnomAD v4 |
4 | g.6302076G>A | CA356178279 | WFS1 | c.2317G>A (p.Ala773Thr) c.2258G>A c.2281G>A (p.Ala761Thr) c.2032G>A (p.Ala678Thr) c.1940G>A (n.1940G>A) n.2466G>A c.2290G>A (p.Ala764Thr) | gnomAD v4 |
4 | g.6302076G>C | CA356178280 | WFS1 | c.2317G>C (p.Ala773Pro) c.2258G>C c.2281G>C (p.Ala761Pro) c.2032G>C (p.Ala678Pro) c.1940G>C (n.1940G>C) n.2466G>C c.2290G>C (p.Ala764Pro) | |
4 | g.6302076G>T | CA356178281 | WFS1 | c.2317G>T (p.Ala773Ser) c.2258G>T c.2281G>T (p.Ala761Ser) c.2032G>T (p.Ala678Ser) c.1940G>T (n.1940G>T) n.2466G>T c.2290G>T (p.Ala764Ser) | |
4 | g.6302077C>A | CA356178283 | WFS1 | c.2318C>A (p.Ala773Asp) c.2259C>A c.2282C>A (p.Ala761Asp) c.2033C>A (p.Ala678Asp) c.1941C>A (n.1941C>A) n.2467C>A c.2291C>A (p.Ala764Asp) | |
4 | g.6302077C= | CA1435772295 | WFS1 | c.2318C= (p.Ala773=) c.2259C= c.2282C= (p.Ala761=) c.2033C= (p.Ala678=) c.1941C= (n.1941C=) n.2467C= c.2291C= (p.Ala764=) | |
4 | g.6302077C>G | CA356178282 | WFS1 | c.2318C>G (p.Ala773Gly) c.2259C>G c.2282C>G (p.Ala761Gly) c.2033C>G (p.Ala678Gly) c.1941C>G (n.1941C>G) n.2467C>G c.2291C>G (p.Ala764Gly) | |
4 | g.6302077C>T | CA91797005 | WFS1 | c.2318C>T (p.Ala773Val) c.2259C>T c.2282C>T (p.Ala761Val) c.2033C>T (p.Ala678Val) c.1941C>T (n.1941C>T) n.2467C>T c.2291C>T (p.Ala764Val) | ClinVar dbSNP gnomAD v4 |
4 | g.6302078C>A | CA438368242 | WFS1 | c.2319C>A (p.Ala773=) c.2260C>A c.2283C>A (p.Ala761=) c.2034C>A (p.Ala678=) c.1942C>A (n.1942C>A) n.2468C>A c.2292C>A (p.Ala764=) | |
4 | g.6302078C= | CA1435772296 | WFS1 | c.2319C= (p.Ala773=) c.2260C= c.2283C= (p.Ala761=) c.2034C= (p.Ala678=) c.1942C= (n.1942C=) n.2468C= c.2292C= (p.Ala764=) | |
4 | g.6302078C>G | CA438368243 | WFS1 | c.2319C>G (p.Ala773=) c.2260C>G c.2283C>G (p.Ala761=) c.2034C>G (p.Ala678=) c.1942C>G (n.1942C>G) n.2468C>G c.2292C>G (p.Ala764=) | gnomAD v4 |
4 | g.6302078C>T | CA2839670 | WFS1 | c.2319C>T (p.Ala773=) c.2260C>T c.2283C>T (p.Ala761=) c.2034C>T (p.Ala678=) c.1942C>T (n.1942C>T) n.2468C>T c.2292C>T (p.Ala764=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302079A= | CA1435772298 | WFS1 | c.2320A= (p.Lys774=) c.2261A= c.2284A= (p.Lys762=) c.2035A= (p.Lys679=) c.1943A= (n.1943A=) n.2469A= c.2293A= (p.Lys765=) | |
4 | g.6302079A>C | CA356178284 | WFS1 | c.2320A>C (p.Lys774Gln) c.2261A>C c.2284A>C (p.Lys762Gln) c.2035A>C (p.Lys679Gln) c.1943A>C (n.1943A>C) n.2469A>C c.2293A>C (p.Lys765Gln) | |
4 | g.6302079A>G | CA2839671 | WFS1 | c.2320A>G (p.Lys774Glu) c.2261A>G c.2284A>G (p.Lys762Glu) c.2035A>G (p.Lys679Glu) c.1943A>G (n.1943A>G) n.2469A>G c.2293A>G (p.Lys765Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302079A>T | CA356178285 | WFS1 | c.2320A>T (p.Lys774Ter) c.2261A>T c.2284A>T (p.Lys762Ter) c.2035A>T (p.Lys679Ter) c.1943A>T (n.1943A>T) n.2469A>T c.2293A>T (p.Lys765Ter) | |
4 | g.6302080A= | CA1435772301 | WFS1 | c.2321A= (p.Lys774=) c.2262A= c.2285A= (p.Lys762=) c.2036A= (p.Lys679=) c.1944A= (n.1944A=) n.2470A= c.2294A= (p.Lys765=) | |
4 | g.6302080A>C | CA356178286 | WFS1 | c.2321A>C (p.Lys774Thr) c.2262A>C c.2285A>C (p.Lys762Thr) c.2036A>C (p.Lys679Thr) c.1944A>C (n.1944A>C) n.2470A>C c.2294A>C (p.Lys765Thr) | |
4 | g.6302080A>G | CA10576640 | WFS1 | c.2321A>G (p.Lys774Arg) c.2262A>G c.2285A>G (p.Lys762Arg) c.2036A>G (p.Lys679Arg) c.1944A>G (n.1944A>G) n.2470A>G c.2294A>G (p.Lys765Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302080A>T | CA356178287 | WFS1 | c.2321A>T (p.Lys774Met) c.2262A>T c.2285A>T (p.Lys762Met) c.2036A>T (p.Lys679Met) c.1944A>T (n.1944A>T) n.2470A>T c.2294A>T (p.Lys765Met) | |
4 | g.6302081G>A | CA2839672 | WFS1 | c.2322G>A (p.Lys774=) c.2263G>A c.2286G>A (p.Lys762=) c.2037G>A (p.Lys679=) c.1945G>A (n.1945G>A) n.2471G>A c.2295G>A (p.Lys765=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302081G>C | CA356178288 | WFS1 | c.2322G>C (p.Lys774Asn) c.2263G>C c.2286G>C (p.Lys762Asn) c.2037G>C (p.Lys679Asn) c.1945G>C (n.1945G>C) n.2471G>C c.2295G>C (p.Lys765Asn) | |
4 | g.6302081G= | CA1435772303 | WFS1 | c.2322G= (p.Lys774=) c.2263G= c.2286G= (p.Lys762=) c.2037G= (p.Lys679=) c.1945G= (n.1945G=) n.2471G= c.2295G= (p.Lys765=) | |
4 | g.6302081G>T | CA356178289 | WFS1 | c.2322G>T (p.Lys774Asn) c.2263G>T c.2286G>T (p.Lys762Asn) c.2037G>T (p.Lys679Asn) c.1945G>T (n.1945G>T) n.2471G>T c.2295G>T (p.Lys765Asn) | dbSNP |
4 | g.6302082C>A | CA356178290 | WFS1 | c.2323C>A (p.His775Asn) c.2264C>A c.2287C>A (p.His763Asn) c.2038C>A (p.His680Asn) c.1946C>A (n.1946C>A) n.2472C>A c.2296C>A (p.His766Asn) | |
4 | g.6302082C= | CA1435772305 | WFS1 | c.2323C= (p.His775=) c.2264C= c.2287C= (p.His763=) c.2038C= (p.His680=) c.1946C= (n.1946C=) n.2472C= c.2296C= (p.His766=) | |
4 | g.6302082C>G | CA356178291 | WFS1 | c.2323C>G (p.His775Asp) c.2264C>G c.2287C>G (p.His763Asp) c.2038C>G (p.His680Asp) c.1946C>G (n.1946C>G) n.2472C>G c.2296C>G (p.His766Asp) | |
4 | g.6302082C>T | CA2839673 | WFS1 | c.2323C>T (p.His775Tyr) c.2264C>T c.2287C>T (p.His763Tyr) c.2038C>T (p.His680Tyr) c.1946C>T (n.1946C>T) n.2472C>T c.2296C>T (p.His766Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |