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.1806093G>A | CA072649 | FGFR3 | c.1885G>A (p.Glu629Lys) c.*935G>A (n.*935G>A) c.1543G>A (p.Glu515Lys) c.1867G>A (p.Glu623Lys) c.1879G>A (p.Glu627Lys) c.1882G>A (p.Glu628Lys) c.1891G>A (p.Glu631Lys) c.1888G>A (p.Glu630Lys) n.2286G>A n.2305G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1806093G>C | CA355982374 | FGFR3 | c.1885G>C (p.Glu629Gln) c.*935G>C (n.*935G>C) c.1543G>C (p.Glu515Gln) c.1867G>C (p.Glu623Gln) c.1879G>C (p.Glu627Gln) c.1882G>C (p.Glu628Gln) c.1891G>C (p.Glu631Gln) c.1888G>C (p.Glu630Gln) n.2286G>C n.2305G>C | dbSNP |
| 4 | g.1806093G= | CA1433507790 | FGFR3 | c.1885G= (p.Glu629=) c.*935G= (n.*935G=) c.1543G= (p.Glu515=) c.1867G= (p.Glu623=) c.1879G= (p.Glu627=) c.1882G= (p.Glu628=) c.1891G= (p.Glu631=) c.1888G= (p.Glu630=) n.2286G= n.2305G= | |
| 4 | g.1806093G>T | CA355982375 | FGFR3 | c.1885G>T (p.Glu629Ter) c.*935G>T (n.*935G>T) c.1543G>T (p.Glu515Ter) c.1867G>T (p.Glu623Ter) c.1879G>T (p.Glu627Ter) c.1882G>T (p.Glu628Ter) c.1891G>T (p.Glu631Ter) c.1888G>T (p.Glu630Ter) n.2286G>T n.2305G>T | |
| 4 | g.1806094A>C | CA355982377 | FGFR3 | c.1886A>C (p.Glu629Ala) c.*936A>C (n.*936A>C) c.1544A>C (p.Glu515Ala) c.1868A>C (p.Glu623Ala) c.1880A>C (p.Glu627Ala) c.1883A>C (p.Glu628Ala) c.1892A>C (p.Glu631Ala) c.1889A>C (p.Glu630Ala) n.2287A>C n.2306A>C | |
| 4 | g.1806094A>G | CA355982379 | FGFR3 | c.1886A>G (p.Glu629Gly) c.*936A>G (n.*936A>G) c.1544A>G (p.Glu515Gly) c.1868A>G (p.Glu623Gly) c.1880A>G (p.Glu627Gly) c.1883A>G (p.Glu628Gly) c.1892A>G (p.Glu631Gly) c.1889A>G (p.Glu630Gly) n.2287A>G n.2306A>G | dbSNP |
| 4 | g.1806094A>T | CA355982380 | FGFR3 | c.1886A>T (p.Glu629Val) c.*936A>T (n.*936A>T) c.1544A>T (p.Glu515Val) c.1868A>T (p.Glu623Val) c.1880A>T (p.Glu627Val) c.1883A>T (p.Glu628Val) c.1892A>T (p.Glu631Val) c.1889A>T (p.Glu630Val) n.2287A>T n.2306A>T | dbSNP |
| 4 | g.1806095G>A | CA438063153 | FGFR3 | c.1887G>A (p.Glu629=) c.*937G>A (n.*937G>A) c.1545G>A (p.Glu515=) c.1869G>A (p.Glu623=) c.1881G>A (p.Glu627=) c.1884G>A (p.Glu628=) c.1893G>A (p.Glu631=) c.1890G>A (p.Glu630=) n.2288G>A n.2307G>A | dbSNP |
| 4 | g.1806095G>C | CA355982382 | FGFR3 | c.1887G>C (p.Glu629Asp) c.*937G>C (n.*937G>C) c.1545G>C (p.Glu515Asp) c.1869G>C (p.Glu623Asp) c.1881G>C (p.Glu627Asp) c.1884G>C (p.Glu628Asp) c.1893G>C (p.Glu631Asp) c.1890G>C (p.Glu630Asp) n.2288G>C n.2307G>C | |
| 4 | g.1806095G>T | CA355982384 | FGFR3 | c.1887G>T (p.Glu629Asp) c.*937G>T (n.*937G>T) c.1545G>T (p.Glu515Asp) c.1869G>T (p.Glu623Asp) c.1881G>T (p.Glu627Asp) c.1884G>T (p.Glu628Asp) c.1893G>T (p.Glu631Asp) c.1890G>T (p.Glu630Asp) n.2288G>T n.2307G>T | COSMIC |
| 4 | g.1806096G>A | CA355982386 | FGFR3 | c.1888G>A (p.Asp630Asn) c.*938G>A (n.*938G>A) c.1546G>A (p.Asp516Asn) c.1870G>A (p.Asp624Asn) c.1882G>A (p.Asp628Asn) c.1885G>A (p.Asp629Asn) c.1894G>A (p.Asp632Asn) c.1891G>A (p.Asp631Asn) n.2289G>A n.2308G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.1806096G>C | CA355982389 | FGFR3 | c.1888G>C (p.Asp630His) c.*938G>C (n.*938G>C) c.1546G>C (p.Asp516His) c.1870G>C (p.Asp624His) c.1882G>C (p.Asp628His) c.1885G>C (p.Asp629His) c.1894G>C (p.Asp632His) c.1891G>C (p.Asp631His) n.2289G>C n.2308G>C | dbSNP |
| 4 | g.1806096G= | CA1433507791 | FGFR3 | c.1888G= (p.Asp630=) c.*938G= (n.*938G=) c.1546G= (p.Asp516=) c.1870G= (p.Asp624=) c.1882G= (p.Asp628=) c.1885G= (p.Asp629=) c.1894G= (p.Asp632=) c.1891G= (p.Asp631=) n.2289G= n.2308G= | |
| 4 | g.1806096G>T | CA355982387 | FGFR3 | c.1888G>T (p.Asp630Tyr) c.*938G>T (n.*938G>T) c.1546G>T (p.Asp516Tyr) c.1870G>T (p.Asp624Tyr) c.1882G>T (p.Asp628Tyr) c.1885G>T (p.Asp629Tyr) c.1894G>T (p.Asp632Tyr) c.1891G>T (p.Asp631Tyr) n.2289G>T n.2308G>T | |
| 4 | g.1806097A>C | CA355982391 | FGFR3 | c.1889A>C (p.Asp630Ala) c.*939A>C (n.*939A>C) c.1547A>C (p.Asp516Ala) c.1871A>C (p.Asp624Ala) c.1883A>C (p.Asp628Ala) c.1886A>C (p.Asp629Ala) c.1895A>C (p.Asp632Ala) c.1892A>C (p.Asp631Ala) n.2290A>C n.2309A>C | dbSNP |
| 4 | g.1806097A>G | CA355982395 | FGFR3 | c.1889A>G (p.Asp630Gly) c.*939A>G (n.*939A>G) c.1547A>G (p.Asp516Gly) c.1871A>G (p.Asp624Gly) c.1883A>G (p.Asp628Gly) c.1886A>G (p.Asp629Gly) c.1895A>G (p.Asp632Gly) c.1892A>G (p.Asp631Gly) n.2290A>G n.2309A>G | dbSNP |
| 4 | g.1806097A>T | CA355982393 | FGFR3 | c.1889A>T (p.Asp630Val) c.*939A>T (n.*939A>T) c.1547A>T (p.Asp516Val) c.1871A>T (p.Asp624Val) c.1883A>T (p.Asp628Val) c.1886A>T (p.Asp629Val) c.1895A>T (p.Asp632Val) c.1892A>T (p.Asp631Val) n.2290A>T n.2309A>T | dbSNP |
| 4 | g.1806098C>A | CA355982397 | FGFR3 | c.1890C>A (p.Asp630Glu) c.*940C>A (n.*940C>A) c.1548C>A (p.Asp516Glu) c.1872C>A (p.Asp624Glu) c.1884C>A (p.Asp628Glu) c.1887C>A (p.Asp629Glu) c.1896C>A (p.Asp632Glu) c.1893C>A (p.Asp631Glu) n.2291C>A n.2310C>A | dbSNP |
| 4 | g.1806098C= | CA1433507792 | FGFR3 | c.1890C= (p.Asp630=) c.*940C= (n.*940C=) c.1548C= (p.Asp516=) c.1872C= (p.Asp624=) c.1884C= (p.Asp628=) c.1887C= (p.Asp629=) c.1896C= (p.Asp632=) c.1893C= (p.Asp631=) n.2291C= n.2310C= | |
| 4 | g.1806098C>G | CA355982399 | FGFR3 | c.1890C>G (p.Asp630Glu) c.*940C>G (n.*940C>G) c.1548C>G (p.Asp516Glu) c.1872C>G (p.Asp624Glu) c.1884C>G (p.Asp628Glu) c.1887C>G (p.Asp629Glu) c.1896C>G (p.Asp632Glu) c.1893C>G (p.Asp631Glu) n.2291C>G n.2310C>G | dbSNP |
| 4 | g.1806098C>T | CA438063154 | FGFR3 | c.1890C>T (p.Asp630=) c.*940C>T (n.*940C>T) c.1548C>T (p.Asp516=) c.1872C>T (p.Asp624=) c.1884C>T (p.Asp628=) c.1887C>T (p.Asp629=) c.1896C>T (p.Asp632=) c.1893C>T (p.Asp631=) n.2291C>T n.2310C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.1806099A>C | CA355982401 | FGFR3 | c.1891A>C (p.Asn631His) c.*941A>C (n.*941A>C) c.1549A>C (p.Asn517His) c.1873A>C (p.Asn625His) c.1885A>C (p.Asn629His) c.1888A>C (p.Asn630His) c.1897A>C (p.Asn633His) c.1894A>C (p.Asn632His) n.2292A>C n.2311A>C | |
| 4 | g.1806099A>G | CA355982403 | FGFR3 | c.1891A>G (p.Asn631Asp) c.*941A>G (n.*941A>G) c.1549A>G (p.Asn517Asp) c.1873A>G (p.Asn625Asp) c.1885A>G (p.Asn629Asp) c.1888A>G (p.Asn630Asp) c.1897A>G (p.Asn633Asp) c.1894A>G (p.Asn632Asp) n.2292A>G n.2311A>G | |
| 4 | g.1806099A>T | CA355982404 | FGFR3 | c.1891A>T (p.Asn631Tyr) c.*941A>T (n.*941A>T) c.1549A>T (p.Asn517Tyr) c.1873A>T (p.Asn625Tyr) c.1885A>T (p.Asn629Tyr) c.1888A>T (p.Asn630Tyr) c.1897A>T (p.Asn633Tyr) c.1894A>T (p.Asn632Tyr) n.2292A>T n.2311A>T | dbSNP |
| 4 | g.1806100A= | CA1433507793 | FGFR3 | c.1892A= (p.Asn631=) c.*942A= (n.*942A=) c.1550A= (p.Asn517=) c.1874A= (p.Asn625=) c.1886A= (p.Asn629=) c.1889A= (p.Asn630=) c.1898A= (p.Asn633=) c.1895A= (p.Asn632=) n.2293A= n.2312A= | |
| 4 | g.1806100A>C | CA355982406 | FGFR3 | c.1892A>C (p.Asn631Thr) c.*942A>C (n.*942A>C) c.1550A>C (p.Asn517Thr) c.1874A>C (p.Asn625Thr) c.1886A>C (p.Asn629Thr) c.1889A>C (p.Asn630Thr) c.1898A>C (p.Asn633Thr) c.1895A>C (p.Asn632Thr) n.2293A>C n.2312A>C | dbSNP |
| 4 | g.1806100A>G | CA355982408 | FGFR3 | c.1892A>G (p.Asn631Ser) c.*942A>G (n.*942A>G) c.1550A>G (p.Asn517Ser) c.1874A>G (p.Asn625Ser) c.1886A>G (p.Asn629Ser) c.1889A>G (p.Asn630Ser) c.1898A>G (p.Asn633Ser) c.1895A>G (p.Asn632Ser) n.2293A>G n.2312A>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1806100A>T | CA355982409 | FGFR3 | c.1892A>T (p.Asn631Ile) c.*942A>T (n.*942A>T) c.1550A>T (p.Asn517Ile) c.1874A>T (p.Asn625Ile) c.1886A>T (p.Asn629Ile) c.1889A>T (p.Asn630Ile) c.1898A>T (p.Asn633Ile) c.1895A>T (p.Asn632Ile) n.2293A>T n.2312A>T | dbSNP |
| 4 | g.1806101C>A | CA355982411 | FGFR3 | c.1893C>A (p.Asn631Lys) c.*943C>A (n.*943C>A) c.1551C>A (p.Asn517Lys) c.1875C>A (p.Asn625Lys) c.1887C>A (p.Asn629Lys) c.1890C>A (p.Asn630Lys) c.1899C>A (p.Asn633Lys) c.1896C>A (p.Asn632Lys) n.2294C>A n.2313C>A | dbSNP gnomAD v4 |
| 4 | g.1806101C= | CA1433507794 | FGFR3 | c.1893C= (p.Asn631=) c.*943C= (n.*943C=) c.1551C= (p.Asn517=) c.1875C= (p.Asn625=) c.1887C= (p.Asn629=) c.1890C= (p.Asn630=) c.1899C= (p.Asn633=) c.1896C= (p.Asn632=) n.2294C= n.2313C= | |
| 4 | g.1806101C>G | CA355982413 | FGFR3 | c.1893C>G (p.Asn631Lys) c.*943C>G (n.*943C>G) c.1551C>G (p.Asn517Lys) c.1875C>G (p.Asn625Lys) c.1887C>G (p.Asn629Lys) c.1890C>G (p.Asn630Lys) c.1899C>G (p.Asn633Lys) c.1896C>G (p.Asn632Lys) n.2294C>G n.2313C>G | dbSNP |
| 4 | g.1806101C>T | CA156284 | FGFR3 | c.1893C>T (p.Asn631=) c.*943C>T (n.*943C>T) c.1551C>T (p.Asn517=) c.1875C>T (p.Asn625=) c.1887C>T (p.Asn629=) c.1890C>T (p.Asn630=) c.1899C>T (p.Asn633=) c.1896C>T (p.Asn632=) n.2294C>T n.2313C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1806102G>A | CA355982416 | FGFR3 | c.1894G>A (p.Val632Met) c.*944G>A (n.*944G>A) c.1552G>A (p.Val518Met) c.1876G>A (p.Val626Met) c.1888G>A (p.Val630Met) c.1891G>A (p.Val631Met) c.1900G>A (p.Val634Met) c.1897G>A (p.Val633Met) n.2295G>A n.2314G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.1806102G>C | CA355982417 | FGFR3 | c.1894G>C (p.Val632Leu) c.*944G>C (n.*944G>C) c.1552G>C (p.Val518Leu) c.1876G>C (p.Val626Leu) c.1888G>C (p.Val630Leu) c.1891G>C (p.Val631Leu) c.1900G>C (p.Val634Leu) c.1897G>C (p.Val633Leu) n.2295G>C n.2314G>C | dbSNP gnomAD v4 |
| 4 | g.1806102G= | CA1433507795 | FGFR3 | c.1894G= (p.Val632=) c.*944G= (n.*944G=) c.1552G= (p.Val518=) c.1876G= (p.Val626=) c.1888G= (p.Val630=) c.1891G= (p.Val631=) c.1900G= (p.Val634=) c.1897G= (p.Val633=) n.2295G= n.2314G= | |
| 4 | g.1806102G>T | CA355982419 | FGFR3 | c.1894G>T (p.Val632Leu) c.*944G>T (n.*944G>T) c.1552G>T (p.Val518Leu) c.1876G>T (p.Val626Leu) c.1888G>T (p.Val630Leu) c.1891G>T (p.Val631Leu) c.1900G>T (p.Val634Leu) c.1897G>T (p.Val633Leu) n.2295G>T n.2314G>T | |
| 4 | g.1806103T>A | CA355982421 | FGFR3 | c.1895T>A (p.Val632Glu) c.*945T>A (n.*945T>A) c.1553T>A (p.Val518Glu) c.1877T>A (p.Val626Glu) c.1889T>A (p.Val630Glu) c.1892T>A (p.Val631Glu) c.1901T>A (p.Val634Glu) c.1898T>A (p.Val633Glu) n.2296T>A n.2315T>A | dbSNP |
| 4 | g.1806103T>C | CA355982425 | FGFR3 | c.1895T>C (p.Val632Ala) c.*945T>C (n.*945T>C) c.1553T>C (p.Val518Ala) c.1877T>C (p.Val626Ala) c.1889T>C (p.Val630Ala) c.1892T>C (p.Val631Ala) c.1901T>C (p.Val634Ala) c.1898T>C (p.Val633Ala) n.2296T>C n.2315T>C | |
| 4 | g.1806103T>G | CA355982423 | FGFR3 | c.1895T>G (p.Val632Gly) c.*945T>G (n.*945T>G) c.1553T>G (p.Val518Gly) c.1877T>G (p.Val626Gly) c.1889T>G (p.Val630Gly) c.1892T>G (p.Val631Gly) c.1901T>G (p.Val634Gly) c.1898T>G (p.Val633Gly) n.2296T>G n.2315T>G | dbSNP |
| 4 | g.1806104G>A | CA438063165 | FGFR3 | c.1896G>A (p.Val632=) c.*946G>A (n.*946G>A) c.1554G>A (p.Val518=) c.1878G>A (p.Val626=) c.1890G>A (p.Val630=) c.1893G>A (p.Val631=) c.1902G>A (p.Val634=) c.1899G>A (p.Val633=) n.2297G>A n.2316G>A | dbSNP |
| 4 | g.1806104G>C | CA438063164 | FGFR3 | c.1896G>C (p.Val632=) c.*946G>C (n.*946G>C) c.1554G>C (p.Val518=) c.1878G>C (p.Val626=) c.1890G>C (p.Val630=) c.1893G>C (p.Val631=) c.1902G>C (p.Val634=) c.1899G>C (p.Val633=) n.2297G>C n.2316G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1806104G= | CA1433507796 | FGFR3 | c.1896G= (p.Val632=) c.*946G= (n.*946G=) c.1554G= (p.Val518=) c.1878G= (p.Val626=) c.1890G= (p.Val630=) c.1893G= (p.Val631=) c.1902G= (p.Val634=) c.1899G= (p.Val633=) n.2297G= n.2316G= | |
| 4 | g.1806104G>T | CA438063163 | FGFR3 | c.1896G>T (p.Val632=) c.*946G>T (n.*946G>T) c.1554G>T (p.Val518=) c.1878G>T (p.Val626=) c.1890G>T (p.Val630=) c.1893G>T (p.Val631=) c.1902G>T (p.Val634=) c.1899G>T (p.Val633=) n.2297G>T n.2316G>T | |
| 4 | g.1806105A>C | CA355982426 | FGFR3 | c.1897A>C (p.Met633Leu) c.*947A>C (n.*947A>C) c.1555A>C (p.Met519Leu) c.1879A>C (p.Met627Leu) c.1891A>C (p.Met631Leu) c.1894A>C (p.Met632Leu) c.1903A>C (p.Met635Leu) c.1900A>C (p.Met634Leu) n.2298A>C n.2317A>C | |
| 4 | g.1806105A>G | CA355982427 | FGFR3 | c.1897A>G (p.Met633Val) c.*947A>G (n.*947A>G) c.1555A>G (p.Met519Val) c.1879A>G (p.Met627Val) c.1891A>G (p.Met631Val) c.1894A>G (p.Met632Val) c.1903A>G (p.Met635Val) c.1900A>G (p.Met634Val) n.2298A>G n.2317A>G | |
| 4 | g.1806105A>T | CA355982429 | FGFR3 | c.1897A>T (p.Met633Leu) c.*947A>T (n.*947A>T) c.1555A>T (p.Met519Leu) c.1879A>T (p.Met627Leu) c.1891A>T (p.Met631Leu) c.1894A>T (p.Met632Leu) c.1903A>T (p.Met635Leu) c.1900A>T (p.Met634Leu) n.2298A>T n.2317A>T | dbSNP |
| 4 | g.1806106T>A | CA355982431 | FGFR3 | c.1898T>A (p.Met633Lys) c.*948T>A (n.*948T>A) c.1556T>A (p.Met519Lys) c.1880T>A (p.Met627Lys) c.1892T>A (p.Met631Lys) c.1895T>A (p.Met632Lys) c.1904T>A (p.Met635Lys) c.1901T>A (p.Met634Lys) n.2299T>A n.2318T>A | dbSNP |
| 4 | g.1806106T>C | CA355982433 | FGFR3 | c.1898T>C (p.Met633Thr) c.*948T>C (n.*948T>C) c.1556T>C (p.Met519Thr) c.1880T>C (p.Met627Thr) c.1892T>C (p.Met631Thr) c.1895T>C (p.Met632Thr) c.1904T>C (p.Met635Thr) c.1901T>C (p.Met634Thr) n.2299T>C n.2318T>C | dbSNP |
| 4 | g.1806106T>G | CA355982435 | FGFR3 | c.1898T>G (p.Met633Arg) c.*948T>G (n.*948T>G) c.1556T>G (p.Met519Arg) c.1880T>G (p.Met627Arg) c.1892T>G (p.Met631Arg) c.1895T>G (p.Met632Arg) c.1904T>G (p.Met635Arg) c.1901T>G (p.Met634Arg) n.2299T>G n.2318T>G | dbSNP |
| 4 | g.1806107G>A | CA355982437 | FGFR3 | c.1899G>A (p.Met633Ile) c.*949G>A (n.*949G>A) c.1557G>A (p.Met519Ile) c.1881G>A (p.Met627Ile) c.1893G>A (p.Met631Ile) c.1896G>A (p.Met632Ile) c.1905G>A (p.Met635Ile) c.1902G>A (p.Met634Ile) n.2300G>A n.2319G>A | dbSNP |