WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301852_6301866del | CA2578035734 | WFS1 | c.2093_2107del (p.Thr698_Cys702del) c.2034_2048del c.2057_2071del (p.Thr686_Cys690del) c.1808_1822del (p.Thr603_Cys607del) c.1716_1730del (n.1716_1730del) n.2242_2256del c.2066_2080del (p.Thr689_Cys693del) | gnomAD v4 |
| 4 | g.6301865_6301874del | CA2586973642 | WFS1 | c.2106_2115del (p.Cys702TrpfsTer17) c.2047_2056del c.2070_2079del (p.Cys690TrpfsTer17) c.1821_1830del (p.Cys607TrpfsTer17) c.1729_1738del (n.1729_1738del) n.2255_2264del c.2079_2088del (p.Cys693TrpfsTer17) | |
| 4 | g.6301866A>C | CA356177643 | WFS1 | c.2107A>C (p.Ser703Arg) c.2048A>C c.2071A>C (p.Ser691Arg) c.1822A>C (p.Ser608Arg) c.1730A>C (n.1730A>C) n.2256A>C c.2080A>C (p.Ser694Arg) | |
| 4 | g.6301866A>G | CA356177642 | WFS1 | c.2107A>G (p.Ser703Gly) c.2048A>G c.2071A>G (p.Ser691Gly) c.1822A>G (p.Ser608Gly) c.1730A>G (n.1730A>G) n.2256A>G c.2080A>G (p.Ser694Gly) | gnomAD v4 |
| 4 | g.6301866A>T | CA356177641 | WFS1 | c.2107A>T (p.Ser703Cys) c.2048A>T c.2071A>T (p.Ser691Cys) c.1822A>T (p.Ser608Cys) c.1730A>T (n.1730A>T) n.2256A>T c.2080A>T (p.Ser694Cys) | |
| 4 | g.6301867G>A | CA356177644 | WFS1 | c.2108G>A (p.Ser703Asn) c.2049G>A c.2072G>A (p.Ser691Asn) c.1823G>A (p.Ser608Asn) c.1731G>A (n.1731G>A) n.2257G>A c.2081G>A (p.Ser694Asn) | |
| 4 | g.6301867G>C | CA356177645 | WFS1 | c.2108G>C (p.Ser703Thr) c.2049G>C c.2072G>C (p.Ser691Thr) c.1823G>C (p.Ser608Thr) c.1731G>C (n.1731G>C) n.2257G>C c.2081G>C (p.Ser694Thr) | gnomAD v4 |
| 4 | g.6301867G= | CA1435771992 | WFS1 | c.2108G= (p.Ser703=) c.2049G= c.2072G= (p.Ser691=) c.1823G= (p.Ser608=) c.1731G= (n.1731G=) n.2257G= c.2081G= (p.Ser694=) | |
| 4 | g.6301867G>T | CA356177646 | WFS1 | c.2108G>T (p.Ser703Ile) c.2049G>T c.2072G>T (p.Ser691Ile) c.1823G>T (p.Ser608Ile) c.1731G>T (n.1731G>T) n.2257G>T c.2081G>T (p.Ser694Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6301868C>A | CA356177647 | WFS1 | c.2109C>A (p.Ser703Arg) c.2050C>A c.2073C>A (p.Ser691Arg) c.1824C>A (p.Ser608Arg) c.1732C>A (n.1732C>A) n.2258C>A c.2082C>A (p.Ser694Arg) | |
| 4 | g.6301868C>G | CA356177648 | WFS1 | c.2109C>G (p.Ser703Arg) c.2050C>G c.2073C>G (p.Ser691Arg) c.1824C>G (p.Ser608Arg) c.1732C>G (n.1732C>G) n.2258C>G c.2082C>G (p.Ser694Arg) | |
| 4 | g.6301868C>T | CA438368468 | WFS1 | c.2109C>T (p.Ser703=) c.2050C>T c.2073C>T (p.Ser691=) c.1824C>T (p.Ser608=) c.1732C>T (n.1732C>T) n.2258C>T c.2082C>T (p.Ser694=) | |
| 4 | g.6301869C>A | CA356177649 | WFS1 | c.2110C>A (p.His704Asn) c.2051C>A c.2074C>A (p.His692Asn) c.1825C>A (p.His609Asn) c.1733C>A (n.1733C>A) n.2259C>A c.2083C>A (p.His695Asn) | |
| 4 | g.6301869C= | CA1435771994 | WFS1 | c.2110C= (p.His704=) c.2051C= c.2074C= (p.His692=) c.1825C= (p.His609=) c.1733C= (n.1733C=) n.2259C= c.2083C= (p.His695=) | |
| 4 | g.6301869C>G | CA356177650 | WFS1 | c.2110C>G (p.His704Asp) c.2051C>G c.2074C>G (p.His692Asp) c.1825C>G (p.His609Asp) c.1733C>G (n.1733C>G) n.2259C>G c.2083C>G (p.His695Asp) | |
| 4 | g.6301869C>T | CA356177651 | WFS1 | c.2110C>T (p.His704Tyr) c.2051C>T c.2074C>T (p.His692Tyr) c.1825C>T (p.His609Tyr) c.1733C>T (n.1733C>T) n.2259C>T c.2083C>T (p.His695Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301870A= | CA1435771995 | WFS1 | c.2111A= (p.His704=) c.2052A= c.2075A= (p.His692=) c.1826A= (p.His609=) c.1734A= (n.1734A=) n.2260A= c.2084A= (p.His695=) | |
| 4 | g.6301870A>C | CA356177652 | WFS1 | c.2111A>C (p.His704Pro) c.2052A>C c.2075A>C (p.His692Pro) c.1826A>C (p.His609Pro) c.1734A>C (n.1734A>C) n.2260A>C c.2084A>C (p.His695Pro) | |
| 4 | g.6301870A>G | CA356177654 | WFS1 | c.2111A>G (p.His704Arg) c.2052A>G c.2075A>G (p.His692Arg) c.1826A>G (p.His609Arg) c.1734A>G (n.1734A>G) n.2260A>G c.2084A>G (p.His695Arg) | dbSNP gnomAD v4 |
| 4 | g.6301870A>T | CA356177653 | WFS1 | c.2111A>T (p.His704Leu) c.2052A>T c.2075A>T (p.His692Leu) c.1826A>T (p.His609Leu) c.1734A>T (n.1734A>T) n.2260A>T c.2084A>T (p.His695Leu) | |
| 4 | g.6301871C>A | CA356177655 | WFS1 | c.2112C>A (p.His704Gln) c.2053C>A c.2076C>A (p.His692Gln) c.1827C>A (p.His609Gln) c.1735C>A (n.1735C>A) n.2261C>A c.2085C>A (p.His695Gln) | |
| 4 | g.6301871C= | CA1435771997 | WFS1 | c.2112C= (p.His704=) c.2053C= c.2076C= (p.His692=) c.1827C= (p.His609=) c.1735C= (n.1735C=) n.2261C= c.2085C= (p.His695=) | |
| 4 | g.6301871C>G | CA356177656 | WFS1 | c.2112C>G (p.His704Gln) c.2053C>G c.2076C>G (p.His692Gln) c.1827C>G (p.His609Gln) c.1735C>G (n.1735C>G) n.2261C>G c.2085C>G (p.His695Gln) | gnomAD v4 |
| 4 | g.6301871C>T | CA438368470 | WFS1 | c.2112C>T (p.His704=) c.2053C>T c.2076C>T (p.His692=) c.1827C>T (p.His609=) c.1735C>T (n.1735C>T) n.2261C>T c.2085C>T (p.His695=) | dbSNP gnomAD v4 |
| 4 | g.6301872C>A | CA356177657 | WFS1 | c.2113C>A (p.Leu705Met) c.2054C>A c.2077C>A (p.Leu693Met) c.1828C>A (p.Leu610Met) c.1736C>A (n.1736C>A) n.2262C>A c.2086C>A (p.Leu696Met) | |
| 4 | g.6301872C>G | CA356177658 | WFS1 | c.2113C>G (p.Leu705Val) c.2054C>G c.2077C>G (p.Leu693Val) c.1828C>G (p.Leu610Val) c.1736C>G (n.1736C>G) n.2262C>G c.2086C>G (p.Leu696Val) | |
| 4 | g.6301872C>T | CA438368474 | WFS1 | c.2113C>T (p.Leu705=) c.2054C>T c.2077C>T (p.Leu693=) c.1828C>T (p.Leu610=) c.1736C>T (n.1736C>T) n.2262C>T c.2086C>T (p.Leu696=) | |
| 4 | g.6301872_6301875dup | CA2760271234 | WFS1 | c.2113_2116dup (p.Glu706AlafsTer19) c.2054_2057dup c.2077_2080dup (p.Glu694AlafsTer19) c.1828_1831dup (p.Glu611AlafsTer19) c.1736_1739dup (n.1736_1739dup) n.2262_2265dup c.2086_2089dup (p.Glu697AlafsTer19) | |
| 4 | g.6301873T>A | CA356177659 | WFS1 | c.2114T>A (p.Leu705Gln) c.2055T>A c.2078T>A (p.Leu693Gln) c.1829T>A (p.Leu610Gln) c.1737T>A (n.1737T>A) n.2263T>A c.2087T>A (p.Leu696Gln) | |
| 4 | g.6301873T>C | CA356177661 | WFS1 | c.2114T>C (p.Leu705Pro) c.2055T>C c.2078T>C (p.Leu693Pro) c.1829T>C (p.Leu610Pro) c.1737T>C (n.1737T>C) n.2263T>C c.2087T>C (p.Leu696Pro) | ClinVar |
| 4 | g.6301873T>G | CA356177660 | WFS1 | c.2114T>G (p.Leu705Arg) c.2055T>G c.2078T>G (p.Leu693Arg) c.1829T>G (p.Leu610Arg) c.1737T>G (n.1737T>G) n.2263T>G c.2087T>G (p.Leu696Arg) | |
| 4 | g.6301874G>A | CA2839590 | WFS1 | c.2115G>A (p.Leu705=) c.2056G>A c.2079G>A (p.Leu693=) c.1830G>A (p.Leu610=) c.1738G>A (n.1738G>A) n.2264G>A c.2088G>A (p.Leu696=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301874G>C | CA438368478 | WFS1 | c.2115G>C (p.Leu705=) c.2056G>C c.2079G>C (p.Leu693=) c.1830G>C (p.Leu610=) c.1738G>C (n.1738G>C) n.2264G>C c.2088G>C (p.Leu696=) | |
| 4 | g.6301874G= | CA1435771998 | WFS1 | c.2115G= (p.Leu705=) c.2056G= c.2079G= (p.Leu693=) c.1830G= (p.Leu610=) c.1738G= (n.1738G=) n.2264G= c.2088G= (p.Leu696=) | |
| 4 | g.6301874G>T | CA438368480 | WFS1 | c.2115G>T (p.Leu705=) c.2056G>T c.2079G>T (p.Leu693=) c.1830G>T (p.Leu610=) c.1738G>T (n.1738G>T) n.2264G>T c.2088G>T (p.Leu696=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301875_6301900del | CA2739270016 | WFS1 | c.2116_2141del (p.Glu706ProfsTer9) c.2057_2082del c.2080_2105del (p.Glu694ProfsTer9) c.1831_1856del (p.Glu611ProfsTer9) c.1739_1764del (n.1739_1764del) n.2265_2290del c.2089_2114del (p.Glu697ProfsTer9) | ClinVar |
| 4 | g.6301875G>A | CA356177662 | WFS1 | c.2116G>A (p.Glu706Lys) c.2057G>A c.2080G>A (p.Glu694Lys) c.1831G>A (p.Glu611Lys) c.1739G>A (n.1739G>A) n.2265G>A c.2089G>A (p.Glu697Lys) | |
| 4 | g.6301875G>C | CA179665 | WFS1 | c.2116G>C (p.Glu706Gln) c.2057G>C c.2080G>C (p.Glu694Gln) c.1831G>C (p.Glu611Gln) c.1739G>C (n.1739G>C) n.2265G>C c.2089G>C (p.Glu697Gln) | ClinVar dbSNP |
| 4 | g.6301875G= | CA1435772000 | WFS1 | c.2116G= (p.Glu706=) c.2057G= c.2080G= (p.Glu694=) c.1831G= (p.Glu611=) c.1739G= (n.1739G=) n.2265G= c.2089G= (p.Glu697=) | |
| 4 | g.6301875G>T | CA2839591 | WFS1 | c.2116G>T (p.Glu706Ter) c.2057G>T c.2080G>T (p.Glu694Ter) c.1831G>T (p.Glu611Ter) c.1739G>T (n.1739G>T) n.2265G>T c.2089G>T (p.Glu697Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301876del | CA2586973643 | WFS1 | c.2117del (p.Glu706GlyfsTer16) c.2058del c.2081del (p.Glu694GlyfsTer16) c.1832del (p.Glu611GlyfsTer16) c.1740del (n.1740del) n.2266del c.2090del (p.Glu697GlyfsTer16) | |
| 4 | g.6301876A>C | CA356177663 | WFS1 | c.2117A>C (p.Glu706Ala) c.2058A>C c.2081A>C (p.Glu694Ala) c.1832A>C (p.Glu611Ala) c.1740A>C (n.1740A>C) n.2266A>C c.2090A>C (p.Glu697Ala) | |
| 4 | g.6301876A>G | CA356177664 | WFS1 | c.2117A>G (p.Glu706Gly) c.2058A>G c.2081A>G (p.Glu694Gly) c.1832A>G (p.Glu611Gly) c.1740A>G (n.1740A>G) n.2266A>G c.2090A>G (p.Glu697Gly) | |
| 4 | g.6301876A>T | CA356177665 | WFS1 | c.2117A>T (p.Glu706Val) c.2058A>T c.2081A>T (p.Glu694Val) c.1832A>T (p.Glu611Val) c.1740A>T (n.1740A>T) n.2266A>T c.2090A>T (p.Glu697Val) | |
| 4 | g.6301877G>A | CA438368485 | WFS1 | c.2118G>A (p.Glu706=) c.2059G>A c.2082G>A (p.Glu694=) c.1833G>A (p.Glu611=) c.1741G>A (n.1741G>A) n.2267G>A c.2091G>A (p.Glu697=) | ClinVar gnomAD v4 |
| 4 | g.6301877G>C | CA2839592 | WFS1 | c.2118G>C (p.Glu706Asp) c.2059G>C c.2082G>C (p.Glu694Asp) c.1833G>C (p.Glu611Asp) c.1741G>C (n.1741G>C) n.2267G>C c.2091G>C (p.Glu697Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301877G= | CA1435772003 | WFS1 | c.2118G= (p.Glu706=) c.2059G= c.2082G= (p.Glu694=) c.1833G= (p.Glu611=) c.1741G= (n.1741G=) n.2267G= c.2091G= (p.Glu697=) | |
| 4 | g.6301877G>T | CA356177666 | WFS1 | c.2118G>T (p.Glu706Asp) c.2059G>T c.2082G>T (p.Glu694Asp) c.1833G>T (p.Glu611Asp) c.1741G>T (n.1741G>T) n.2267G>T c.2091G>T (p.Glu697Asp) | |
| 4 | g.6301878G>A | CA356177667 | WFS1 | c.2119G>A (p.Gly707Ser) c.2060G>A c.2083G>A (p.Gly695Ser) c.1834G>A (p.Gly612Ser) c.1742G>A (n.1742G>A) n.2268G>A c.2092G>A (p.Gly698Ser) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301878G>C | CA356177668 | WFS1 | c.2119G>C (p.Gly707Arg) c.2060G>C c.2083G>C (p.Gly695Arg) c.1834G>C (p.Gly612Arg) c.1742G>C (n.1742G>C) n.2268G>C c.2092G>C (p.Gly698Arg) |