Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.1806074_1806084delCA2669554045FGFR3c.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
4g.1806076G>ACA126386FGFR3c.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
4g.1806076G>CCA355982309FGFR3c.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
4g.1806076G=CA1433507785FGFR3c.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=
4g.1806076G>TCA355982310FGFR3c.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
4g.1806077C>ACA438063125FGFR3c.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
4g.1806077C=CA1433507786FGFR3c.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=
4g.1806077C>GCA438063126FGFR3c.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
4g.1806077C>TCA438063127FGFR3c.1869C>T (p.Arg623=)
c.*919C>T (n.*919C>T)
c.1527C>T (p.Arg509=)
c.1851C>T (p.Arg617=)
c.1863C>T (p.Arg621=)
c.1866C>T (p.Arg622=)
c.1875C>T (p.Arg625=)
c.1872C>T (p.Arg624=)
n.2270C>T
n.2289C>T
dbSNP gnomAD v2
4g.1806078A>CCA355982312FGFR3c.1870A>C (p.Asn624His)
c.*920A>C (n.*920A>C)
c.1528A>C (p.Asn510His)
c.1852A>C (p.Asn618His)
c.1864A>C (p.Asn622His)
c.1867A>C (p.Asn623His)
c.1876A>C (p.Asn626His)
c.1873A>C (p.Asn625His)
n.2271A>C
n.2290A>C
4g.1806078A>GCA355982314FGFR3c.1870A>G (p.Asn624Asp)
c.*920A>G (n.*920A>G)
c.1528A>G (p.Asn510Asp)
c.1852A>G (p.Asn618Asp)
c.1864A>G (p.Asn622Asp)
c.1867A>G (p.Asn623Asp)
c.1876A>G (p.Asn626Asp)
c.1873A>G (p.Asn625Asp)
n.2271A>G
n.2290A>G
4g.1806078A>TCA355982316FGFR3c.1870A>T (p.Asn624Tyr)
c.*920A>T (n.*920A>T)
c.1528A>T (p.Asn510Tyr)
c.1852A>T (p.Asn618Tyr)
c.1864A>T (p.Asn622Tyr)
c.1867A>T (p.Asn623Tyr)
c.1876A>T (p.Asn626Tyr)
c.1873A>T (p.Asn625Tyr)
n.2271A>T
n.2290A>T
4g.1806079A>CCA355982318FGFR3c.1871A>C (p.Asn624Thr)
c.*921A>C (n.*921A>C)
c.1529A>C (p.Asn510Thr)
c.1853A>C (p.Asn618Thr)
c.1865A>C (p.Asn622Thr)
c.1868A>C (p.Asn623Thr)
c.1877A>C (p.Asn626Thr)
c.1874A>C (p.Asn625Thr)
n.2272A>C
n.2291A>C
4g.1806079A>GCA355982320FGFR3c.1871A>G (p.Asn624Ser)
c.*921A>G (n.*921A>G)
c.1529A>G (p.Asn510Ser)
c.1853A>G (p.Asn618Ser)
c.1865A>G (p.Asn622Ser)
c.1868A>G (p.Asn623Ser)
c.1877A>G (p.Asn626Ser)
c.1874A>G (p.Asn625Ser)
n.2272A>G
n.2291A>G
ClinVar dbSNP
4g.1806079A>TCA355982322FGFR3c.1871A>T (p.Asn624Ile)
c.*921A>T (n.*921A>T)
c.1529A>T (p.Asn510Ile)
c.1853A>T (p.Asn618Ile)
c.1865A>T (p.Asn622Ile)
c.1868A>T (p.Asn623Ile)
c.1877A>T (p.Asn626Ile)
c.1874A>T (p.Asn625Ile)
n.2272A>T
n.2291A>T
dbSNP
4g.1806079_1806083delCA2704953300FGFR3c.1871_1875del (p.Asn624ThrfsTer?)
c.*921_*925del (n.*921_*925del)
c.1529_1533del (p.Asn510ThrfsTer?)
c.1853_1857del (p.Asn618ThrfsTer?)
c.1865_1869del (p.Asn622ThrfsTer?)
c.1868_1872del (p.Asn623ThrfsTer?)
c.1877_1881del (p.Asn626ThrfsTer?)
c.1874_1878del (p.Asn625ThrfsTer?)
n.2272_2276del
n.2291_2295del
dbSNP
4g.1806080T>ACA355982324FGFR3c.1872T>A (p.Asn624Lys)
c.*922T>A (n.*922T>A)
c.1530T>A (p.Asn510Lys)
c.1854T>A (p.Asn618Lys)
c.1866T>A (p.Asn622Lys)
c.1869T>A (p.Asn623Lys)
c.1878T>A (p.Asn626Lys)
c.1875T>A (p.Asn625Lys)
n.2273T>A
n.2292T>A
dbSNP
4g.1806080T>CCA438063132FGFR3c.1872T>C (p.Asn624=)
c.*922T>C (n.*922T>C)
c.1530T>C (p.Asn510=)
c.1854T>C (p.Asn618=)
c.1866T>C (p.Asn622=)
c.1869T>C (p.Asn623=)
c.1878T>C (p.Asn626=)
c.1875T>C (p.Asn625=)
n.2273T>C
n.2292T>C
dbSNP gnomAD v4
4g.1806080T>GCA355982326FGFR3c.1872T>G (p.Asn624Lys)
c.*922T>G (n.*922T>G)
c.1530T>G (p.Asn510Lys)
c.1854T>G (p.Asn618Lys)
c.1866T>G (p.Asn622Lys)
c.1869T>G (p.Asn623Lys)
c.1878T>G (p.Asn626Lys)
c.1875T>G (p.Asn625Lys)
n.2273T>G
n.2292T>G
4g.1806081G>ACA355982328FGFR3c.1873G>A (p.Val625Met)
c.*923G>A (n.*923G>A)
c.1531G>A (p.Val511Met)
c.1855G>A (p.Val619Met)
c.1867G>A (p.Val623Met)
c.1870G>A (p.Val624Met)
c.1879G>A (p.Val627Met)
c.1876G>A (p.Val626Met)
n.2274G>A
n.2293G>A
dbSNP gnomAD v2 gnomAD v4
4g.1806081G>CCA355982331FGFR3c.1873G>C (p.Val625Leu)
c.*923G>C (n.*923G>C)
c.1531G>C (p.Val511Leu)
c.1855G>C (p.Val619Leu)
c.1867G>C (p.Val623Leu)
c.1870G>C (p.Val624Leu)
c.1879G>C (p.Val627Leu)
c.1876G>C (p.Val626Leu)
n.2274G>C
n.2293G>C
dbSNP
4g.1806081G=CA1433507787FGFR3c.1873G= (p.Val625=)
c.*923G= (n.*923G=)
c.1531G= (p.Val511=)
c.1855G= (p.Val619=)
c.1867G= (p.Val623=)
c.1870G= (p.Val624=)
c.1879G= (p.Val627=)
c.1876G= (p.Val626=)
n.2274G=
n.2293G=
4g.1806081G>TCA355982330FGFR3c.1873G>T (p.Val625Leu)
c.*923G>T (n.*923G>T)
c.1531G>T (p.Val511Leu)
c.1855G>T (p.Val619Leu)
c.1867G>T (p.Val623Leu)
c.1870G>T (p.Val624Leu)
c.1879G>T (p.Val627Leu)
c.1876G>T (p.Val626Leu)
n.2274G>T
n.2293G>T
4g.1806082T>ACA355982334FGFR3c.1874T>A (p.Val625Glu)
c.*924T>A (n.*924T>A)
c.1532T>A (p.Val511Glu)
c.1856T>A (p.Val619Glu)
c.1868T>A (p.Val623Glu)
c.1871T>A (p.Val624Glu)
c.1880T>A (p.Val627Glu)
c.1877T>A (p.Val626Glu)
n.2275T>A
n.2294T>A
4g.1806082T>CCA355982336FGFR3c.1874T>C (p.Val625Ala)
c.*924T>C (n.*924T>C)
c.1532T>C (p.Val511Ala)
c.1856T>C (p.Val619Ala)
c.1868T>C (p.Val623Ala)
c.1871T>C (p.Val624Ala)
c.1880T>C (p.Val627Ala)
c.1877T>C (p.Val626Ala)
n.2275T>C
n.2294T>C
4g.1806082T>GCA355982337FGFR3c.1874T>G (p.Val625Gly)
c.*924T>G (n.*924T>G)
c.1532T>G (p.Val511Gly)
c.1856T>G (p.Val619Gly)
c.1868T>G (p.Val623Gly)
c.1871T>G (p.Val624Gly)
c.1880T>G (p.Val627Gly)
c.1877T>G (p.Val626Gly)
n.2275T>G
n.2294T>G
4g.1806083G>ACA438063136FGFR3c.1875G>A (p.Val625=)
c.*925G>A (n.*925G>A)
c.1533G>A (p.Val511=)
c.1857G>A (p.Val619=)
c.1869G>A (p.Val623=)
c.1872G>A (p.Val624=)
c.1881G>A (p.Val627=)
c.1878G>A (p.Val626=)
n.2276G>A
n.2295G>A
dbSNP
4g.1806083G>CCA438063134FGFR3c.1875G>C (p.Val625=)
c.*925G>C (n.*925G>C)
c.1533G>C (p.Val511=)
c.1857G>C (p.Val619=)
c.1869G>C (p.Val623=)
c.1872G>C (p.Val624=)
c.1881G>C (p.Val627=)
c.1878G>C (p.Val626=)
n.2276G>C
n.2295G>C
dbSNP
4g.1806083G>TCA438063135FGFR3c.1875G>T (p.Val625=)
c.*925G>T (n.*925G>T)
c.1533G>T (p.Val511=)
c.1857G>T (p.Val619=)
c.1869G>T (p.Val623=)
c.1872G>T (p.Val624=)
c.1881G>T (p.Val627=)
c.1878G>T (p.Val626=)
n.2276G>T
n.2295G>T
dbSNP
4g.1806084C>ACA355982340FGFR3c.1876C>A (p.Leu626Met)
c.*926C>A (n.*926C>A)
c.1534C>A (p.Leu512Met)
c.1858C>A (p.Leu620Met)
c.1870C>A (p.Leu624Met)
c.1873C>A (p.Leu625Met)
c.1882C>A (p.Leu628Met)
c.1879C>A (p.Leu627Met)
n.2277C>A
n.2296C>A
dbSNP
4g.1806084C>GCA355982342FGFR3c.1876C>G (p.Leu626Val)
c.*926C>G (n.*926C>G)
c.1534C>G (p.Leu512Val)
c.1858C>G (p.Leu620Val)
c.1870C>G (p.Leu624Val)
c.1873C>G (p.Leu625Val)
c.1882C>G (p.Leu628Val)
c.1879C>G (p.Leu627Val)
n.2277C>G
n.2296C>G
dbSNP
4g.1806084C>TCA438063139FGFR3c.1876C>T (p.Leu626=)
c.*926C>T (n.*926C>T)
c.1534C>T (p.Leu512=)
c.1858C>T (p.Leu620=)
c.1870C>T (p.Leu624=)
c.1873C>T (p.Leu625=)
c.1882C>T (p.Leu628=)
c.1879C>T (p.Leu627=)
n.2277C>T
n.2296C>T
dbSNP gnomAD v4
4g.1806085T>ACA355982344FGFR3c.1877T>A (p.Leu626Gln)
c.*927T>A (n.*927T>A)
c.1535T>A (p.Leu512Gln)
c.1859T>A (p.Leu620Gln)
c.1871T>A (p.Leu624Gln)
c.1874T>A (p.Leu625Gln)
c.1883T>A (p.Leu628Gln)
c.1880T>A (p.Leu627Gln)
n.2278T>A
n.2297T>A
dbSNP
4g.1806085T>CCA355982346FGFR3c.1877T>C (p.Leu626Pro)
c.*927T>C (n.*927T>C)
c.1535T>C (p.Leu512Pro)
c.1859T>C (p.Leu620Pro)
c.1871T>C (p.Leu624Pro)
c.1874T>C (p.Leu625Pro)
c.1883T>C (p.Leu628Pro)
c.1880T>C (p.Leu627Pro)
n.2278T>C
n.2297T>C
4g.1806085T>GCA355982347FGFR3c.1877T>G (p.Leu626Arg)
c.*927T>G (n.*927T>G)
c.1535T>G (p.Leu512Arg)
c.1859T>G (p.Leu620Arg)
c.1871T>G (p.Leu624Arg)
c.1874T>G (p.Leu625Arg)
c.1883T>G (p.Leu628Arg)
c.1880T>G (p.Leu627Arg)
n.2278T>G
n.2297T>G
4g.1806086G>ACA438063143FGFR3c.1878G>A (p.Leu626=)
c.*928G>A (n.*928G>A)
c.1536G>A (p.Leu512=)
c.1860G>A (p.Leu620=)
c.1872G>A (p.Leu624=)
c.1875G>A (p.Leu625=)
c.1884G>A (p.Leu628=)
c.1881G>A (p.Leu627=)
n.2279G>A
n.2298G>A
dbSNP gnomAD v4
4g.1806086G>CCA438063144FGFR3c.1878G>C (p.Leu626=)
c.*928G>C (n.*928G>C)
c.1536G>C (p.Leu512=)
c.1860G>C (p.Leu620=)
c.1872G>C (p.Leu624=)
c.1875G>C (p.Leu625=)
c.1884G>C (p.Leu628=)
c.1881G>C (p.Leu627=)
n.2279G>C
n.2298G>C
dbSNP
4g.1806086G>TCA438063145FGFR3c.1878G>T (p.Leu626=)
c.*928G>T (n.*928G>T)
c.1536G>T (p.Leu512=)
c.1860G>T (p.Leu620=)
c.1872G>T (p.Leu624=)
c.1875G>T (p.Leu625=)
c.1884G>T (p.Leu628=)
c.1881G>T (p.Leu627=)
n.2279G>T
n.2298G>T
4g.1806087delCA2704953414FGFR3c.1879del (p.Val627Ter)
c.*929del (n.*929del)
c.1537del (p.Val513Ter)
c.1861del (p.Val621Ter)
c.1873del (p.Val625Ter)
c.1876del (p.Val626Ter)
c.1885del (p.Val629Ter)
c.1882del (p.Val628Ter)
n.2280del
n.2299del
dbSNP
4g.1806087G>ACA355982349FGFR3c.1879G>A (p.Val627Met)
c.*929G>A (n.*929G>A)
c.1537G>A (p.Val513Met)
c.1861G>A (p.Val621Met)
c.1873G>A (p.Val625Met)
c.1876G>A (p.Val626Met)
c.1885G>A (p.Val629Met)
c.1882G>A (p.Val628Met)
n.2280G>A
n.2299G>A
dbSNP
4g.1806087G>CCA355982351FGFR3c.1879G>C (p.Val627Leu)
c.*929G>C (n.*929G>C)
c.1537G>C (p.Val513Leu)
c.1861G>C (p.Val621Leu)
c.1873G>C (p.Val625Leu)
c.1876G>C (p.Val626Leu)
c.1885G>C (p.Val629Leu)
c.1882G>C (p.Val628Leu)
n.2280G>C
n.2299G>C
dbSNP
4g.1806087G>TCA355982353FGFR3c.1879G>T (p.Val627Leu)
c.*929G>T (n.*929G>T)
c.1537G>T (p.Val513Leu)
c.1861G>T (p.Val621Leu)
c.1873G>T (p.Val625Leu)
c.1876G>T (p.Val626Leu)
c.1885G>T (p.Val629Leu)
c.1882G>T (p.Val628Leu)
n.2280G>T
n.2299G>T
4g.1806088T>ACA355982359FGFR3c.1880T>A (p.Val627Glu)
c.*930T>A (n.*930T>A)
c.1538T>A (p.Val513Glu)
c.1862T>A (p.Val621Glu)
c.1874T>A (p.Val625Glu)
c.1877T>A (p.Val626Glu)
c.1886T>A (p.Val629Glu)
c.1883T>A (p.Val628Glu)
n.2281T>A
n.2300T>A
dbSNP
4g.1806088T>CCA355982357FGFR3c.1880T>C (p.Val627Ala)
c.*930T>C (n.*930T>C)
c.1538T>C (p.Val513Ala)
c.1862T>C (p.Val621Ala)
c.1874T>C (p.Val625Ala)
c.1877T>C (p.Val626Ala)
c.1886T>C (p.Val629Ala)
c.1883T>C (p.Val628Ala)
n.2281T>C
n.2300T>C
dbSNP
4g.1806088T>GCA355982355FGFR3c.1880T>G (p.Val627Gly)
c.*930T>G (n.*930T>G)
c.1538T>G (p.Val513Gly)
c.1862T>G (p.Val621Gly)
c.1874T>G (p.Val625Gly)
c.1877T>G (p.Val626Gly)
c.1886T>G (p.Val629Gly)
c.1883T>G (p.Val628Gly)
n.2281T>G
n.2300T>G
dbSNP
4g.1806089G>ACA438063147FGFR3c.1881G>A (p.Val627=)
c.*931G>A (n.*931G>A)
c.1539G>A (p.Val513=)
c.1863G>A (p.Val621=)
c.1875G>A (p.Val625=)
c.1878G>A (p.Val626=)
c.1887G>A (p.Val629=)
c.1884G>A (p.Val628=)
n.2282G>A
n.2301G>A
dbSNP
4g.1806089G>CCA438063148FGFR3c.1881G>C (p.Val627=)
c.*931G>C (n.*931G>C)
c.1539G>C (p.Val513=)
c.1863G>C (p.Val621=)
c.1875G>C (p.Val625=)
c.1878G>C (p.Val626=)
c.1887G>C (p.Val629=)
c.1884G>C (p.Val628=)
n.2282G>C
n.2301G>C
dbSNP
4g.1806089G>TCA438063149FGFR3c.1881G>T (p.Val627=)
c.*931G>T (n.*931G>T)
c.1539G>T (p.Val513=)
c.1863G>T (p.Val621=)
c.1875G>T (p.Val625=)
c.1878G>T (p.Val626=)
c.1887G>T (p.Val629=)
c.1884G>T (p.Val628=)
n.2282G>T
n.2301G>T
dbSNP
4g.1806090A=CA1433507788FGFR3c.1882A= (p.Thr628=)
c.*932A= (n.*932A=)
c.1540A= (p.Thr514=)
c.1864A= (p.Thr622=)
c.1876A= (p.Thr626=)
c.1879A= (p.Thr627=)
c.1888A= (p.Thr630=)
c.1885A= (p.Thr629=)
n.2283A=
n.2302A=
4g.1806090A>CCA355982361FGFR3c.1882A>C (p.Thr628Pro)
c.*932A>C (n.*932A>C)
c.1540A>C (p.Thr514Pro)
c.1864A>C (p.Thr622Pro)
c.1876A>C (p.Thr626Pro)
c.1879A>C (p.Thr627Pro)
c.1888A>C (p.Thr630Pro)
c.1885A>C (p.Thr629Pro)
n.2283A>C
n.2302A>C
dbSNP

Number of alleles fetched