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.1806063G>A | CA355982254 | FGFR3 | c.1855G>A (p.Asp619Asn) c.*905G>A (n.*905G>A) c.1513G>A (p.Asp505Asn) c.1837G>A (p.Asp613Asn) c.1849G>A (p.Asp617Asn) c.1852G>A (p.Asp618Asn) c.1861G>A (p.Asp621Asn) c.1858G>A (p.Asp620Asn) n.2256G>A n.2275G>A | dbSNP |
| 4 | g.1806063G>C | CA355982256 | FGFR3 | c.1855G>C (p.Asp619His) c.*905G>C (n.*905G>C) c.1513G>C (p.Asp505His) c.1837G>C (p.Asp613His) c.1849G>C (p.Asp617His) c.1852G>C (p.Asp618His) c.1861G>C (p.Asp621His) c.1858G>C (p.Asp620His) n.2256G>C n.2275G>C | dbSNP |
| 4 | g.1806063G>T | CA355982258 | FGFR3 | c.1855G>T (p.Asp619Tyr) c.*905G>T (n.*905G>T) c.1513G>T (p.Asp505Tyr) c.1837G>T (p.Asp613Tyr) c.1849G>T (p.Asp617Tyr) c.1852G>T (p.Asp618Tyr) c.1861G>T (p.Asp621Tyr) c.1858G>T (p.Asp620Tyr) n.2256G>T n.2275G>T | |
| 4 | g.1806064A>C | CA355982260 | FGFR3 | c.1856A>C (p.Asp619Ala) c.*906A>C (n.*906A>C) c.1514A>C (p.Asp505Ala) c.1838A>C (p.Asp613Ala) c.1850A>C (p.Asp617Ala) c.1853A>C (p.Asp618Ala) c.1862A>C (p.Asp621Ala) c.1859A>C (p.Asp620Ala) n.2257A>C n.2276A>C | dbSNP |
| 4 | g.1806064A>G | CA355982261 | FGFR3 | c.1856A>G (p.Asp619Gly) c.*906A>G (n.*906A>G) c.1514A>G (p.Asp505Gly) c.1838A>G (p.Asp613Gly) c.1850A>G (p.Asp617Gly) c.1853A>G (p.Asp618Gly) c.1862A>G (p.Asp621Gly) c.1859A>G (p.Asp620Gly) n.2257A>G n.2276A>G | dbSNP COSMIC |
| 4 | g.1806064A>T | CA355982264 | FGFR3 | c.1856A>T (p.Asp619Val) c.*906A>T (n.*906A>T) c.1514A>T (p.Asp505Val) c.1838A>T (p.Asp613Val) c.1850A>T (p.Asp617Val) c.1853A>T (p.Asp618Val) c.1862A>T (p.Asp621Val) c.1859A>T (p.Asp620Val) n.2257A>T n.2276A>T | dbSNP |
| 4 | g.1806065C>A | CA355982266 | FGFR3 | c.1857C>A (p.Asp619Glu) c.*907C>A (n.*907C>A) c.1515C>A (p.Asp505Glu) c.1839C>A (p.Asp613Glu) c.1851C>A (p.Asp617Glu) c.1854C>A (p.Asp618Glu) c.1863C>A (p.Asp621Glu) c.1860C>A (p.Asp620Glu) n.2258C>A n.2277C>A | dbSNP |
| 4 | g.1806065C= | CA1433507782 | FGFR3 | c.1857C= (p.Asp619=) c.*907C= (n.*907C=) c.1515C= (p.Asp505=) c.1839C= (p.Asp613=) c.1851C= (p.Asp617=) c.1854C= (p.Asp618=) c.1863C= (p.Asp621=) c.1860C= (p.Asp620=) n.2258C= n.2277C= | |
| 4 | g.1806065C>G | CA355982268 | FGFR3 | c.1857C>G (p.Asp619Glu) c.*907C>G (n.*907C>G) c.1515C>G (p.Asp505Glu) c.1839C>G (p.Asp613Glu) c.1851C>G (p.Asp617Glu) c.1854C>G (p.Asp618Glu) c.1863C>G (p.Asp621Glu) c.1860C>G (p.Asp620Glu) n.2258C>G n.2277C>G | dbSNP |
| 4 | g.1806065C>T | CA2810617 | FGFR3 | c.1857C>T (p.Asp619=) c.*907C>T (n.*907C>T) c.1515C>T (p.Asp505=) c.1839C>T (p.Asp613=) c.1851C>T (p.Asp617=) c.1854C>T (p.Asp618=) c.1863C>T (p.Asp621=) c.1860C>T (p.Asp620=) n.2258C>T n.2277C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1806066C>A | CA355982271 | FGFR3 | c.1858C>A (p.Leu620Met) c.*908C>A (n.*908C>A) c.1516C>A (p.Leu506Met) c.1840C>A (p.Leu614Met) c.1852C>A (p.Leu618Met) c.1855C>A (p.Leu619Met) c.1864C>A (p.Leu622Met) c.1861C>A (p.Leu621Met) n.2259C>A n.2278C>A | |
| 4 | g.1806066C>G | CA355982273 | FGFR3 | c.1858C>G (p.Leu620Val) c.*908C>G (n.*908C>G) c.1516C>G (p.Leu506Val) c.1840C>G (p.Leu614Val) c.1852C>G (p.Leu618Val) c.1855C>G (p.Leu619Val) c.1864C>G (p.Leu622Val) c.1861C>G (p.Leu621Val) n.2259C>G n.2278C>G | dbSNP |
| 4 | g.1806066C>T | CA438063106 | FGFR3 | c.1858C>T (p.Leu620=) c.*908C>T (n.*908C>T) c.1516C>T (p.Leu506=) c.1840C>T (p.Leu614=) c.1852C>T (p.Leu618=) c.1855C>T (p.Leu619=) c.1864C>T (p.Leu622=) c.1861C>T (p.Leu621=) n.2259C>T n.2278C>T | dbSNP gnomAD v4 |
| 4 | g.1806067T>A | CA355982275 | FGFR3 | c.1859T>A (p.Leu620Gln) c.*909T>A (n.*909T>A) c.1517T>A (p.Leu506Gln) c.1841T>A (p.Leu614Gln) c.1853T>A (p.Leu618Gln) c.1856T>A (p.Leu619Gln) c.1865T>A (p.Leu622Gln) c.1862T>A (p.Leu621Gln) n.2260T>A n.2279T>A | |
| 4 | g.1806067T>C | CA355982279 | FGFR3 | c.1859T>C (p.Leu620Pro) c.*909T>C (n.*909T>C) c.1517T>C (p.Leu506Pro) c.1841T>C (p.Leu614Pro) c.1853T>C (p.Leu618Pro) c.1856T>C (p.Leu619Pro) c.1865T>C (p.Leu622Pro) c.1862T>C (p.Leu621Pro) n.2260T>C n.2279T>C | |
| 4 | g.1806067T>G | CA355982277 | FGFR3 | c.1859T>G (p.Leu620Arg) c.*909T>G (n.*909T>G) c.1517T>G (p.Leu506Arg) c.1841T>G (p.Leu614Arg) c.1853T>G (p.Leu618Arg) c.1856T>G (p.Leu619Arg) c.1865T>G (p.Leu622Arg) c.1862T>G (p.Leu621Arg) n.2260T>G n.2279T>G | |
| 4 | g.1806068G>A | CA438063111 | FGFR3 | c.1860G>A (p.Leu620=) c.*910G>A (n.*910G>A) c.1518G>A (p.Leu506=) c.1842G>A (p.Leu614=) c.1854G>A (p.Leu618=) c.1857G>A (p.Leu619=) c.1866G>A (p.Leu622=) c.1863G>A (p.Leu621=) n.2261G>A n.2280G>A | dbSNP COSMIC |
| 4 | g.1806068G>C | CA438063110 | FGFR3 | c.1860G>C (p.Leu620=) c.*910G>C (n.*910G>C) c.1518G>C (p.Leu506=) c.1842G>C (p.Leu614=) c.1854G>C (p.Leu618=) c.1857G>C (p.Leu619=) c.1866G>C (p.Leu622=) c.1863G>C (p.Leu621=) n.2261G>C n.2280G>C | dbSNP |
| 4 | g.1806068G>T | CA438063109 | FGFR3 | c.1860G>T (p.Leu620=) c.*910G>T (n.*910G>T) c.1518G>T (p.Leu506=) c.1842G>T (p.Leu614=) c.1854G>T (p.Leu618=) c.1857G>T (p.Leu619=) c.1866G>T (p.Leu622=) c.1863G>T (p.Leu621=) n.2261G>T n.2280G>T | dbSNP |
| 4 | g.1806069G>A | CA355982281 | FGFR3 | c.1861G>A (p.Ala621Thr) c.*911G>A (n.*911G>A) c.1519G>A (p.Ala507Thr) c.1843G>A (p.Ala615Thr) c.1855G>A (p.Ala619Thr) c.1858G>A (p.Ala620Thr) c.1867G>A (p.Ala623Thr) c.1864G>A (p.Ala622Thr) n.2262G>A n.2281G>A | dbSNP |
| 4 | g.1806069G>C | CA355982282 | FGFR3 | c.1861G>C (p.Ala621Pro) c.*911G>C (n.*911G>C) c.1519G>C (p.Ala507Pro) c.1843G>C (p.Ala615Pro) c.1855G>C (p.Ala619Pro) c.1858G>C (p.Ala620Pro) c.1867G>C (p.Ala623Pro) c.1864G>C (p.Ala622Pro) n.2262G>C n.2281G>C | dbSNP |
| 4 | g.1806069G>T | CA355982284 | FGFR3 | c.1861G>T (p.Ala621Ser) c.*911G>T (n.*911G>T) c.1519G>T (p.Ala507Ser) c.1843G>T (p.Ala615Ser) c.1855G>T (p.Ala619Ser) c.1858G>T (p.Ala620Ser) c.1867G>T (p.Ala623Ser) c.1864G>T (p.Ala622Ser) n.2262G>T n.2281G>T | dbSNP |
| 4 | g.1806070C>A | CA355982287 | FGFR3 | c.1862C>A (p.Ala621Asp) c.*912C>A (n.*912C>A) c.1520C>A (p.Ala507Asp) c.1844C>A (p.Ala615Asp) c.1856C>A (p.Ala619Asp) c.1859C>A (p.Ala620Asp) c.1868C>A (p.Ala623Asp) c.1865C>A (p.Ala622Asp) n.2263C>A n.2282C>A | |
| 4 | g.1806070C= | CA1433507783 | FGFR3 | c.1862C= (p.Ala621=) c.*912C= (n.*912C=) c.1520C= (p.Ala507=) c.1844C= (p.Ala615=) c.1856C= (p.Ala619=) c.1859C= (p.Ala620=) c.1868C= (p.Ala623=) c.1865C= (p.Ala622=) n.2263C= n.2282C= | |
| 4 | g.1806070C>G | CA2810618 | FGFR3 | c.1862C>G (p.Ala621Gly) c.*912C>G (n.*912C>G) c.1520C>G (p.Ala507Gly) c.1844C>G (p.Ala615Gly) c.1856C>G (p.Ala619Gly) c.1859C>G (p.Ala620Gly) c.1868C>G (p.Ala623Gly) c.1865C>G (p.Ala622Gly) n.2263C>G n.2282C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1806070C>T | CA355982289 | FGFR3 | c.1862C>T (p.Ala621Val) c.*912C>T (n.*912C>T) c.1520C>T (p.Ala507Val) c.1844C>T (p.Ala615Val) c.1856C>T (p.Ala619Val) c.1859C>T (p.Ala620Val) c.1868C>T (p.Ala623Val) c.1865C>T (p.Ala622Val) n.2263C>T n.2282C>T | dbSNP |
| 4 | g.1806071T>A | CA438063113 | FGFR3 | c.1863T>A (p.Ala621=) c.*913T>A (n.*913T>A) c.1521T>A (p.Ala507=) c.1845T>A (p.Ala615=) c.1857T>A (p.Ala619=) c.1860T>A (p.Ala620=) c.1869T>A (p.Ala623=) c.1866T>A (p.Ala622=) n.2264T>A n.2283T>A | dbSNP |
| 4 | g.1806071T>C | CA438063116 | FGFR3 | c.1863T>C (p.Ala621=) c.*913T>C (n.*913T>C) c.1521T>C (p.Ala507=) c.1845T>C (p.Ala615=) c.1857T>C (p.Ala619=) c.1860T>C (p.Ala620=) c.1869T>C (p.Ala623=) c.1866T>C (p.Ala622=) n.2264T>C n.2283T>C | dbSNP |
| 4 | g.1806071T>G | CA438063117 | FGFR3 | c.1863T>G (p.Ala621=) c.*913T>G (n.*913T>G) c.1521T>G (p.Ala507=) c.1845T>G (p.Ala615=) c.1857T>G (p.Ala619=) c.1860T>G (p.Ala620=) c.1869T>G (p.Ala623=) c.1866T>G (p.Ala622=) n.2264T>G n.2283T>G | |
| 4 | g.1806074_1806084del | CA2669554045 | FGFR3 | c.1866_1876del (p.Arg623GlyfsTer?) c.*916_*926del (n.*916_*926del) c.1524_1534del (p.Arg509GlyfsTer?) c.1848_1858del (p.Arg617GlyfsTer?) c.1860_1870del (p.Arg621GlyfsTer?) c.1863_1873del (p.Arg622GlyfsTer?) c.1872_1882del (p.Arg625GlyfsTer?) c.1869_1879del (p.Arg624GlyfsTer?) n.2267_2277del n.2286_2296del | gnomAD v4 |
| 4 | g.1806072G>A | CA355982291 | FGFR3 | c.1864G>A (p.Ala622Thr) c.*914G>A (n.*914G>A) c.1522G>A (p.Ala508Thr) c.1846G>A (p.Ala616Thr) c.1858G>A (p.Ala620Thr) c.1861G>A (p.Ala621Thr) c.1870G>A (p.Ala624Thr) c.1867G>A (p.Ala623Thr) n.2265G>A n.2284G>A | |
| 4 | g.1806072G>C | CA355982293 | FGFR3 | c.1864G>C (p.Ala622Pro) c.*914G>C (n.*914G>C) c.1522G>C (p.Ala508Pro) c.1846G>C (p.Ala616Pro) c.1858G>C (p.Ala620Pro) c.1861G>C (p.Ala621Pro) c.1870G>C (p.Ala624Pro) c.1867G>C (p.Ala623Pro) n.2265G>C n.2284G>C | |
| 4 | g.1806072G>T | CA355982294 | FGFR3 | c.1864G>T (p.Ala622Ser) c.*914G>T (n.*914G>T) c.1522G>T (p.Ala508Ser) c.1846G>T (p.Ala616Ser) c.1858G>T (p.Ala620Ser) c.1861G>T (p.Ala621Ser) c.1870G>T (p.Ala624Ser) c.1867G>T (p.Ala623Ser) n.2265G>T n.2284G>T | |
| 4 | g.1806073C>A | CA355982296 | FGFR3 | c.1865C>A (p.Ala622Asp) c.*915C>A (n.*915C>A) c.1523C>A (p.Ala508Asp) c.1847C>A (p.Ala616Asp) c.1859C>A (p.Ala620Asp) c.1862C>A (p.Ala621Asp) c.1871C>A (p.Ala624Asp) c.1868C>A (p.Ala623Asp) n.2266C>A n.2285C>A | dbSNP |
| 4 | g.1806073C>G | CA355982298 | FGFR3 | c.1865C>G (p.Ala622Gly) c.*915C>G (n.*915C>G) c.1523C>G (p.Ala508Gly) c.1847C>G (p.Ala616Gly) c.1859C>G (p.Ala620Gly) c.1862C>G (p.Ala621Gly) c.1871C>G (p.Ala624Gly) c.1868C>G (p.Ala623Gly) n.2266C>G n.2285C>G | dbSNP |
| 4 | g.1806073C>T | CA355982299 | FGFR3 | c.1865C>T (p.Ala622Val) c.*915C>T (n.*915C>T) c.1523C>T (p.Ala508Val) c.1847C>T (p.Ala616Val) c.1859C>T (p.Ala620Val) c.1862C>T (p.Ala621Val) c.1871C>T (p.Ala624Val) c.1868C>T (p.Ala623Val) n.2266C>T n.2285C>T | dbSNP |
| 4 | g.1806074C>A | CA438063121 | FGFR3 | c.1866C>A (p.Ala622=) c.*916C>A (n.*916C>A) c.1524C>A (p.Ala508=) c.1848C>A (p.Ala616=) c.1860C>A (p.Ala620=) c.1863C>A (p.Ala621=) c.1872C>A (p.Ala624=) c.1869C>A (p.Ala623=) n.2267C>A n.2286C>A | dbSNP |
| 4 | g.1806074C= | CA1433507784 | FGFR3 | c.1866C= (p.Ala622=) c.*916C= (n.*916C=) c.1524C= (p.Ala508=) c.1848C= (p.Ala616=) c.1860C= (p.Ala620=) c.1863C= (p.Ala621=) c.1872C= (p.Ala624=) c.1869C= (p.Ala623=) n.2267C= n.2286C= | |
| 4 | g.1806074C>G | CA438063122 | FGFR3 | c.1866C>G (p.Ala622=) c.*916C>G (n.*916C>G) c.1524C>G (p.Ala508=) c.1848C>G (p.Ala616=) c.1860C>G (p.Ala620=) c.1863C>G (p.Ala621=) c.1872C>G (p.Ala624=) c.1869C>G (p.Ala623=) n.2267C>G n.2286C>G | dbSNP |
| 4 | g.1806074C>T | CA2810619 | FGFR3 | c.1866C>T (p.Ala622=) c.*916C>T (n.*916C>T) c.1524C>T (p.Ala508=) c.1848C>T (p.Ala616=) c.1860C>T (p.Ala620=) c.1863C>T (p.Ala621=) c.1872C>T (p.Ala624=) c.1869C>T (p.Ala623=) n.2267C>T n.2286C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1806075C>A | CA355982302 | FGFR3 | c.1867C>A (p.Arg623Ser) c.*917C>A (n.*917C>A) c.1525C>A (p.Arg509Ser) c.1849C>A (p.Arg617Ser) c.1861C>A (p.Arg621Ser) c.1864C>A (p.Arg622Ser) c.1873C>A (p.Arg625Ser) c.1870C>A (p.Arg624Ser) n.2268C>A n.2287C>A | |
| 4 | g.1806075C>G | CA355982304 | FGFR3 | c.1867C>G (p.Arg623Gly) c.*917C>G (n.*917C>G) c.1525C>G (p.Arg509Gly) c.1849C>G (p.Arg617Gly) c.1861C>G (p.Arg621Gly) c.1864C>G (p.Arg622Gly) c.1873C>G (p.Arg625Gly) c.1870C>G (p.Arg624Gly) n.2268C>G n.2287C>G | |
| 4 | g.1806075C>T | CA355982305 | FGFR3 | c.1867C>T (p.Arg623Cys) c.*917C>T (n.*917C>T) c.1525C>T (p.Arg509Cys) c.1849C>T (p.Arg617Cys) c.1861C>T (p.Arg621Cys) c.1864C>T (p.Arg622Cys) c.1873C>T (p.Arg625Cys) c.1870C>T (p.Arg624Cys) n.2268C>T n.2287C>T | ClinVar dbSNP |
| 4 | g.1806076G>A | CA126386 | FGFR3 | c.1868G>A (p.Arg623His) c.*918G>A (n.*918G>A) c.1526G>A (p.Arg509His) c.1850G>A (p.Arg617His) c.1862G>A (p.Arg621His) c.1865G>A (p.Arg622His) c.1874G>A (p.Arg625His) c.1871G>A (p.Arg624His) n.2269G>A n.2288G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.1806076G>C | CA355982309 | FGFR3 | c.1868G>C (p.Arg623Pro) c.*918G>C (n.*918G>C) c.1526G>C (p.Arg509Pro) c.1850G>C (p.Arg617Pro) c.1862G>C (p.Arg621Pro) c.1865G>C (p.Arg622Pro) c.1874G>C (p.Arg625Pro) c.1871G>C (p.Arg624Pro) n.2269G>C n.2288G>C | dbSNP |
| 4 | g.1806076G= | CA1433507785 | FGFR3 | c.1868G= (p.Arg623=) c.*918G= (n.*918G=) c.1526G= (p.Arg509=) c.1850G= (p.Arg617=) c.1862G= (p.Arg621=) c.1865G= (p.Arg622=) c.1874G= (p.Arg625=) c.1871G= (p.Arg624=) n.2269G= n.2288G= | |
| 4 | g.1806076G>T | CA355982310 | FGFR3 | c.1868G>T (p.Arg623Leu) c.*918G>T (n.*918G>T) c.1526G>T (p.Arg509Leu) c.1850G>T (p.Arg617Leu) c.1862G>T (p.Arg621Leu) c.1865G>T (p.Arg622Leu) c.1874G>T (p.Arg625Leu) c.1871G>T (p.Arg624Leu) n.2269G>T n.2288G>T | ClinVar dbSNP |
| 4 | g.1806077C>A | CA438063125 | FGFR3 | c.1869C>A (p.Arg623=) c.*919C>A (n.*919C>A) c.1527C>A (p.Arg509=) c.1851C>A (p.Arg617=) c.1863C>A (p.Arg621=) c.1866C>A (p.Arg622=) c.1875C>A (p.Arg625=) c.1872C>A (p.Arg624=) n.2270C>A n.2289C>A | gnomAD v4 |
| 4 | g.1806077C= | CA1433507786 | FGFR3 | c.1869C= (p.Arg623=) c.*919C= (n.*919C=) c.1527C= (p.Arg509=) c.1851C= (p.Arg617=) c.1863C= (p.Arg621=) c.1866C= (p.Arg622=) c.1875C= (p.Arg625=) c.1872C= (p.Arg624=) n.2270C= n.2289C= | |
| 4 | g.1806077C>G | CA438063126 | FGFR3 | c.1869C>G (p.Arg623=) c.*919C>G (n.*919C>G) c.1527C>G (p.Arg509=) c.1851C>G (p.Arg617=) c.1863C>G (p.Arg621=) c.1866C>G (p.Arg622=) c.1875C>G (p.Arg625=) c.1872C>G (p.Arg624=) n.2270C>G n.2289C>G |