UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301966C>A | CA356177976 | WFS1 | c.2207C>A (p.Pro736Gln) c.2148C>A c.2171C>A (p.Pro724Gln) c.1922C>A (p.Pro641Gln) c.1830C>A (n.1830C>A) n.2356C>A c.2180C>A (p.Pro727Gln) | |
| 4 | g.6301966C= | CA1435772130 | WFS1 | c.2207C= (p.Pro736=) c.2148C= c.2171C= (p.Pro724=) c.1922C= (p.Pro641=) c.1830C= (n.1830C=) n.2356C= c.2180C= (p.Pro727=) | |
| 4 | g.6301966C>G | CA356177977 | WFS1 | c.2207C>G (p.Pro736Arg) c.2148C>G c.2171C>G (p.Pro724Arg) c.1922C>G (p.Pro641Arg) c.1830C>G (n.1830C>G) n.2356C>G c.2180C>G (p.Pro727Arg) | gnomAD v4 |
| 4 | g.6301966C>T | CA253184 | WFS1 | c.2207C>T (p.Pro736Leu) c.2148C>T c.2171C>T (p.Pro724Leu) c.1922C>T (p.Pro641Leu) c.1830C>T (n.1830C>T) n.2356C>T c.2180C>T (p.Pro727Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301967G>A | CA91796896 | WFS1 | c.2208G>A (p.Pro736=) c.2149G>A c.2172G>A (p.Pro724=) c.1923G>A (p.Pro641=) c.1831G>A (n.1831G>A) n.2357G>A c.2181G>A (p.Pro727=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301967G>C | CA438368682 | WFS1 | c.2208G>C (p.Pro736=) c.2149G>C c.2172G>C (p.Pro724=) c.1923G>C (p.Pro641=) c.1831G>C (n.1831G>C) n.2357G>C c.2181G>C (p.Pro727=) | |
| 4 | g.6301967G= | CA1435772132 | WFS1 | c.2208G= (p.Pro736=) c.2149G= c.2172G= (p.Pro724=) c.1923G= (p.Pro641=) c.1831G= (n.1831G=) n.2357G= c.2181G= (p.Pro727=) | |
| 4 | g.6301967G>T | CA2839634 | WFS1 | c.2208G>T (p.Pro736=) c.2149G>T c.2172G>T (p.Pro724=) c.1923G>T (p.Pro641=) c.1831G>T (n.1831G>T) n.2357G>T c.2181G>T (p.Pro727=) | dbSNP ExAC gnomAD v2 |
| 4 | g.6301967_6301970delinsGTTC | CA1435772133 | WFS1 | c.2208_2211delinsGTTC (p.Pro736=) c.2149_2152delinsGTTC c.2172_2175delinsGTTC (p.Pro724=) c.1923_1926delinsGTTC (p.Pro641=) c.1831_1834delinsGTTC (n.1831_1834delinsGTTC) n.2357_2360delinsGTTC c.2181_2184delinsGTTC (p.Pro727=) | |
| 4 | g.6301968T>A | CA356177980 | WFS1 | c.2209T>A (p.Phe737Ile) c.2150T>A c.2173T>A (p.Phe725Ile) c.1924T>A (p.Phe642Ile) c.1832T>A (n.1832T>A) n.2358T>A c.2182T>A (p.Phe728Ile) | |
| 4 | g.6301968T>C | CA356177982 | WFS1 | c.2209T>C (p.Phe737Leu) c.2150T>C c.2173T>C (p.Phe725Leu) c.1924T>C (p.Phe642Leu) c.1832T>C (n.1832T>C) n.2358T>C c.2182T>C (p.Phe728Leu) | |
| 4 | g.6301968T>G | CA356177981 | WFS1 | c.2209T>G (p.Phe737Val) c.2150T>G c.2173T>G (p.Phe725Val) c.1924T>G (p.Phe642Val) c.1832T>G (n.1832T>G) n.2358T>G c.2182T>G (p.Phe728Val) | |
| 4 | g.6301971_6301973del | CA797209926 | WFS1 | c.2212_2214del (p.Phe738del) c.2153_2155del c.2176_2178del (p.Phe726del) c.1927_1929del (p.Phe643del) c.1835_1837del (n.1835_1837del) n.2361_2363del c.2185_2187del (p.Phe729del) | dbSNP gnomAD v4 |
| 4 | g.6301969T>A | CA356177983 | WFS1 | c.2210T>A (p.Phe737Tyr) c.2151T>A c.2174T>A (p.Phe725Tyr) c.1925T>A (p.Phe642Tyr) c.1833T>A (n.1833T>A) n.2359T>A c.2183T>A (p.Phe728Tyr) | |
| 4 | g.6301969T>C | CA356177984 | WFS1 | c.2210T>C (p.Phe737Ser) c.2151T>C c.2174T>C (p.Phe725Ser) c.1925T>C (p.Phe642Ser) c.1833T>C (n.1833T>C) n.2359T>C c.2183T>C (p.Phe728Ser) | |
| 4 | g.6301969T>G | CA356177985 | WFS1 | c.2210T>G (p.Phe737Cys) c.2151T>G c.2174T>G (p.Phe725Cys) c.1925T>G (p.Phe642Cys) c.1833T>G (n.1833T>G) n.2359T>G c.2183T>G (p.Phe728Cys) | |
| 4 | g.6301969_6301973dup | CA2586973647 | WFS1 | c.2210_2214dup (p.Ile739SerfsTer?) c.2151_2155dup c.2174_2178dup (p.Ile727SerfsTer?) c.1925_1929dup (p.Ile644SerfsTer?) c.1833_1837dup (n.1833_1837dup) n.2359_2363dup c.2183_2187dup (p.Ile730SerfsTer?) | |
| 4 | g.6301970C>A | CA356177986 | WFS1 | c.2211C>A (p.Phe737Leu) c.2152C>A c.2175C>A (p.Phe725Leu) c.1926C>A (p.Phe642Leu) c.1834C>A (n.1834C>A) n.2360C>A c.2184C>A (p.Phe728Leu) | |
| 4 | g.6301970C= | CA1435772135 | WFS1 | c.2211C= (p.Phe737=) c.2152C= c.2175C= (p.Phe725=) c.1926C= (p.Phe642=) c.1834C= (n.1834C=) n.2360C= c.2184C= (p.Phe728=) | |
| 4 | g.6301970C>G | CA2839635 | WFS1 | c.2211C>G (p.Phe737Leu) c.2152C>G c.2175C>G (p.Phe725Leu) c.1926C>G (p.Phe642Leu) c.1834C>G (n.1834C>G) n.2360C>G c.2184C>G (p.Phe728Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301970C>T | CA91796902 | WFS1 | c.2211C>T (p.Phe737=) c.2152C>T c.2175C>T (p.Phe725=) c.1926C>T (p.Phe642=) c.1834C>T (n.1834C>T) n.2360C>T c.2184C>T (p.Phe728=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301971T>A | CA356177988 | WFS1 | c.2212T>A (p.Phe738Ile) c.2153T>A c.2176T>A (p.Phe726Ile) c.1927T>A (p.Phe643Ile) c.1835T>A (n.1835T>A) n.2361T>A c.2185T>A (p.Phe729Ile) | |
| 4 | g.6301971T>C | CA356177990 | WFS1 | c.2212T>C (p.Phe738Leu) c.2153T>C c.2176T>C (p.Phe726Leu) c.1927T>C (p.Phe643Leu) c.1835T>C (n.1835T>C) n.2361T>C c.2185T>C (p.Phe729Leu) | |
| 4 | g.6301971T>G | CA356177992 | WFS1 | c.2212T>G (p.Phe738Val) c.2153T>G c.2176T>G (p.Phe726Val) c.1927T>G (p.Phe643Val) c.1835T>G (n.1835T>G) n.2361T>G c.2185T>G (p.Phe729Val) | |
| 4 | g.6301972T>A | CA356177994 | WFS1 | c.2213T>A (p.Phe738Tyr) c.2154T>A c.2177T>A (p.Phe726Tyr) c.1928T>A (p.Phe643Tyr) c.1836T>A (n.1836T>A) n.2362T>A c.2186T>A (p.Phe729Tyr) | |
| 4 | g.6301972T>C | CA356177996 | WFS1 | c.2213T>C (p.Phe738Ser) c.2154T>C c.2177T>C (p.Phe726Ser) c.1928T>C (p.Phe643Ser) c.1836T>C (n.1836T>C) n.2362T>C c.2186T>C (p.Phe729Ser) | |
| 4 | g.6301972T>G | CA356177998 | WFS1 | c.2213T>G (p.Phe738Cys) c.2154T>G c.2177T>G (p.Phe726Cys) c.1928T>G (p.Phe643Cys) c.1836T>G (n.1836T>G) n.2362T>G c.2186T>G (p.Phe729Cys) | |
| 4 | g.6301974_6301976del | CA2669843474 | WFS1 | c.2215_2217del (p.Ile739del) c.2156_2158del c.2179_2181del (p.Ile727del) c.1930_1932del (p.Ile644del) c.1838_1840del (n.1838_1840del) n.2364_2366del c.2188_2190del (p.Ile730del) | gnomAD v4 |
| 4 | g.6301973C>A | CA356178000 | WFS1 | c.2214C>A (p.Phe738Leu) c.2155C>A c.2178C>A (p.Phe726Leu) c.1929C>A (p.Phe643Leu) c.1837C>A (n.1837C>A) n.2363C>A c.2187C>A (p.Phe729Leu) | |
| 4 | g.6301973C= | CA1435772138 | WFS1 | c.2214C= (p.Phe738=) c.2155C= c.2178C= (p.Phe726=) c.1929C= (p.Phe643=) c.1837C= (n.1837C=) n.2363C= c.2187C= (p.Phe729=) | |
| 4 | g.6301973C>G | CA356178002 | WFS1 | c.2214C>G (p.Phe738Leu) c.2155C>G c.2178C>G (p.Phe726Leu) c.1929C>G (p.Phe643Leu) c.1837C>G (n.1837C>G) n.2363C>G c.2187C>G (p.Phe729Leu) | |
| 4 | g.6301973C>T | CA91796904 | WFS1 | c.2214C>T (p.Phe738=) c.2155C>T c.2178C>T (p.Phe726=) c.1929C>T (p.Phe643=) c.1837C>T (n.1837C>T) n.2363C>T c.2187C>T (p.Phe729=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301974A= | CA1435772139 | WFS1 | c.2215A= (p.Ile739=) c.2156A= c.2179A= (p.Ile727=) c.1930A= (p.Ile644=) c.1838A= (n.1838A=) n.2364A= c.2188A= (p.Ile730=) | |
| 4 | g.6301974A>C | CA356178007 | WFS1 | c.2215A>C (p.Ile739Leu) c.2156A>C c.2179A>C (p.Ile727Leu) c.1930A>C (p.Ile644Leu) c.1838A>C (n.1838A>C) n.2364A>C c.2188A>C (p.Ile730Leu) | |
| 4 | g.6301974A>G | CA356178003 | WFS1 | c.2215A>G (p.Ile739Val) c.2156A>G c.2179A>G (p.Ile727Val) c.1930A>G (p.Ile644Val) c.1838A>G (n.1838A>G) n.2364A>G c.2188A>G (p.Ile730Val) | ClinVar gnomAD v4 |
| 4 | g.6301974A>T | CA356178005 | WFS1 | c.2215A>T (p.Ile739Phe) c.2156A>T c.2179A>T (p.Ile727Phe) c.1930A>T (p.Ile644Phe) c.1838A>T (n.1838A>T) n.2364A>T c.2188A>T (p.Ile730Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301975T>A | CA356178009 | WFS1 | c.2216T>A (p.Ile739Asn) c.2157T>A c.2180T>A (p.Ile727Asn) c.1931T>A (p.Ile644Asn) c.1839T>A (n.1839T>A) n.2365T>A c.2189T>A (p.Ile730Asn) | |
| 4 | g.6301975T>C | CA356178011 | WFS1 | c.2216T>C (p.Ile739Thr) c.2157T>C c.2180T>C (p.Ile727Thr) c.1931T>C (p.Ile644Thr) c.1839T>C (n.1839T>C) n.2365T>C c.2189T>C (p.Ile730Thr) | |
| 4 | g.6301975T>G | CA356178013 | WFS1 | c.2216T>G (p.Ile739Ser) c.2157T>G c.2180T>G (p.Ile727Ser) c.1931T>G (p.Ile644Ser) c.1839T>G (n.1839T>G) n.2365T>G c.2189T>G (p.Ile730Ser) | gnomAD v4 |
| 4 | g.6301976C>A | CA438368691 | WFS1 | c.2217C>A (p.Ile739=) c.2158C>A c.2181C>A (p.Ile727=) c.1932C>A (p.Ile644=) c.1840C>A (n.1840C>A) n.2366C>A c.2190C>A (p.Ile730=) | |
| 4 | g.6301976C= | CA1435772141 | WFS1 | c.2217C= (p.Ile739=) c.2158C= c.2181C= (p.Ile727=) c.1932C= (p.Ile644=) c.1840C= (n.1840C=) n.2366C= c.2190C= (p.Ile730=) | |
| 4 | g.6301976C>G | CA356178015 | WFS1 | c.2217C>G (p.Ile739Met) c.2158C>G c.2181C>G (p.Ile727Met) c.1932C>G (p.Ile644Met) c.1840C>G (n.1840C>G) n.2366C>G c.2190C>G (p.Ile730Met) | |
| 4 | g.6301976C>T | CA247677 | WFS1 | c.2217C>T (p.Ile739=) c.2158C>T c.2181C>T (p.Ile727=) c.1932C>T (p.Ile644=) c.1840C>T (n.1840C>T) n.2366C>T c.2190C>T (p.Ile730=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301977G>A | CA179669 | WFS1 | c.2218G>A (p.Gly740Ser) c.2159G>A c.2182G>A (p.Gly728Ser) c.1933G>A (p.Gly645Ser) c.1841G>A (n.1841G>A) n.2367G>A c.2191G>A (p.Gly731Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301977G>C | CA356178019 | WFS1 | c.2218G>C (p.Gly740Arg) c.2159G>C c.2182G>C (p.Gly728Arg) c.1933G>C (p.Gly645Arg) c.1841G>C (n.1841G>C) n.2367G>C c.2191G>C (p.Gly731Arg) | |
| 4 | g.6301977G= | CA1435772144 | WFS1 | c.2218G= (p.Gly740=) c.2159G= c.2182G= (p.Gly728=) c.1933G= (p.Gly645=) c.1841G= (n.1841G=) n.2367G= c.2191G= (p.Gly731=) | |
| 4 | g.6301977G>T | CA356178021 | WFS1 | c.2218G>T (p.Gly740Cys) c.2159G>T c.2182G>T (p.Gly728Cys) c.1933G>T (p.Gly645Cys) c.1841G>T (n.1841G>T) n.2367G>T c.2191G>T (p.Gly731Cys) | gnomAD v4 |
| 4 | g.6301978G>A | CA356178023 | WFS1 | c.2219G>A (p.Gly740Asp) c.2160G>A c.2183G>A (p.Gly728Asp) c.1934G>A (p.Gly645Asp) c.1842G>A (n.1842G>A) n.2368G>A c.2192G>A (p.Gly731Asp) | ClinVar dbSNP |
| 4 | g.6301978G>C | CA356178025 | WFS1 | c.2219G>C (p.Gly740Ala) c.2160G>C c.2183G>C (p.Gly728Ala) c.1934G>C (p.Gly645Ala) c.1842G>C (n.1842G>C) n.2368G>C c.2192G>C (p.Gly731Ala) | |
| 4 | g.6301978G= | CA1435772146 | WFS1 | c.2219G= (p.Gly740=) c.2160G= c.2183G= (p.Gly728=) c.1934G= (p.Gly645=) c.1842G= (n.1842G=) n.2368G= c.2192G= (p.Gly731=) |