Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.1806070C>ACA355982287FGFR3c.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
4g.1806070C=CA1433507783FGFR3c.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=
4g.1806070C>GCA2810618FGFR3c.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
4g.1806070C>TCA355982289FGFR3c.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
4g.1806071T>ACA438063113FGFR3c.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
4g.1806071T>CCA438063116FGFR3c.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
4g.1806071T>GCA438063117FGFR3c.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
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.1806072G>ACA355982291FGFR3c.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
4g.1806072G>CCA355982293FGFR3c.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
4g.1806072G>TCA355982294FGFR3c.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
4g.1806073C>ACA355982296FGFR3c.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
4g.1806073C>GCA355982298FGFR3c.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
4g.1806073C>TCA355982299FGFR3c.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
4g.1806074C>ACA438063121FGFR3c.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
4g.1806074C=CA1433507784FGFR3c.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=
4g.1806074C>GCA438063122FGFR3c.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
4g.1806074C>TCA2810619FGFR3c.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
4g.1806075C>ACA355982302FGFR3c.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
4g.1806075C>GCA355982304FGFR3c.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
4g.1806075C>TCA355982305FGFR3c.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
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
ClinVar
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
4g.1806090A>GCA355982363FGFR3c.1882A>G (p.Thr628Ala)
c.*932A>G (n.*932A>G)
c.1540A>G (p.Thr514Ala)
c.1864A>G (p.Thr622Ala)
c.1876A>G (p.Thr626Ala)
c.1879A>G (p.Thr627Ala)
c.1888A>G (p.Thr630Ala)
c.1885A>G (p.Thr629Ala)
n.2283A>G
n.2302A>G
dbSNP
4g.1806090A>TCA2810620FGFR3c.1882A>T (p.Thr628Ser)
c.*932A>T (n.*932A>T)
c.1540A>T (p.Thr514Ser)
c.1864A>T (p.Thr622Ser)
c.1876A>T (p.Thr626Ser)
c.1879A>T (p.Thr627Ser)
c.1888A>T (p.Thr630Ser)
c.1885A>T (p.Thr629Ser)
n.2283A>T
n.2302A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1806091C>ACA355982366FGFR3c.1883C>A (p.Thr628Asn)
c.*933C>A (n.*933C>A)
c.1541C>A (p.Thr514Asn)
c.1865C>A (p.Thr622Asn)
c.1877C>A (p.Thr626Asn)
c.1880C>A (p.Thr627Asn)
c.1889C>A (p.Thr630Asn)
c.1886C>A (p.Thr629Asn)
n.2284C>A
n.2303C>A
4g.1806091C>GCA355982368FGFR3c.1883C>G (p.Thr628Ser)
c.*933C>G (n.*933C>G)
c.1541C>G (p.Thr514Ser)
c.1865C>G (p.Thr622Ser)
c.1877C>G (p.Thr626Ser)
c.1880C>G (p.Thr627Ser)
c.1889C>G (p.Thr630Ser)
c.1886C>G (p.Thr629Ser)
n.2284C>G
n.2303C>G
dbSNP gnomAD v4
4g.1806091C>TCA355982370FGFR3c.1883C>T (p.Thr628Ile)
c.*933C>T (n.*933C>T)
c.1541C>T (p.Thr514Ile)
c.1865C>T (p.Thr622Ile)
c.1877C>T (p.Thr626Ile)
c.1880C>T (p.Thr627Ile)
c.1889C>T (p.Thr630Ile)
c.1886C>T (p.Thr629Ile)
n.2284C>T
n.2303C>T
dbSNP
4g.1806092C>ACA438063150FGFR3c.1884C>A (p.Thr628=)
c.*934C>A (n.*934C>A)
c.1542C>A (p.Thr514=)
c.1866C>A (p.Thr622=)
c.1878C>A (p.Thr626=)
c.1881C>A (p.Thr627=)
c.1890C>A (p.Thr630=)
c.1887C>A (p.Thr629=)
n.2285C>A
n.2304C>A
dbSNP
4g.1806092C=CA1433507789FGFR3c.1884C= (p.Thr628=)
c.*934C= (n.*934C=)
c.1542C= (p.Thr514=)
c.1866C= (p.Thr622=)
c.1878C= (p.Thr626=)
c.1881C= (p.Thr627=)
c.1890C= (p.Thr630=)
c.1887C= (p.Thr629=)
n.2285C=
n.2304C=
4g.1806092C>GCA438063151FGFR3c.1884C>G (p.Thr628=)
c.*934C>G (n.*934C>G)
c.1542C>G (p.Thr514=)
c.1866C>G (p.Thr622=)
c.1878C>G (p.Thr626=)
c.1881C>G (p.Thr627=)
c.1890C>G (p.Thr630=)
c.1887C>G (p.Thr629=)
n.2285C>G
n.2304C>G
dbSNP gnomAD v4
4g.1806092C>TCA2810621FGFR3c.1884C>T (p.Thr628=)
c.*934C>T (n.*934C>T)
c.1542C>T (p.Thr514=)
c.1866C>T (p.Thr622=)
c.1878C>T (p.Thr626=)
c.1881C>T (p.Thr627=)
c.1890C>T (p.Thr630=)
c.1887C>T (p.Thr629=)
n.2285C>T
n.2304C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1806093G>ACA072649FGFR3c.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
4g.1806093G>CCA355982374FGFR3c.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
4g.1806093G=CA1433507790FGFR3c.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=
4g.1806093G>TCA355982375FGFR3c.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
4g.1806094A>CCA355982377FGFR3c.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
4g.1806094A>GCA355982379FGFR3c.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
4g.1806094A>TCA355982380FGFR3c.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
4g.1806095G>ACA438063153FGFR3c.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
4g.1806095G>CCA355982382FGFR3c.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
4g.1806095G>TCA355982384FGFR3c.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
4g.1806096G>ACA355982386FGFR3c.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
4g.1806096G>CCA355982389FGFR3c.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
4g.1806096G=CA1433507791FGFR3c.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=
4g.1806096G>TCA355982387FGFR3c.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
4g.1806097A>CCA355982391FGFR3c.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
4g.1806097A>GCA355982395FGFR3c.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
4g.1806097A>TCA355982393FGFR3c.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
4g.1806098C>ACA355982397FGFR3c.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
4g.1806098C=CA1433507792FGFR3c.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=
4g.1806098C>GCA355982399FGFR3c.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
4g.1806098C>TCA438063154FGFR3c.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
4g.1806099A>CCA355982401FGFR3c.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
4g.1806099A>GCA355982403FGFR3c.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
4g.1806099A>TCA355982404FGFR3c.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
4g.1806100A=CA1433507793FGFR3c.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=
4g.1806100A>CCA355982406FGFR3c.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
4g.1806100A>GCA355982408FGFR3c.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
4g.1806100A>TCA355982409FGFR3c.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
4g.1806101C>ACA355982411FGFR3c.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
4g.1806101C=CA1433507794FGFR3c.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=
4g.1806101C>GCA355982413FGFR3c.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
4g.1806101C>TCA156284FGFR3c.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
4g.1806102G>ACA355982416FGFR3c.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
4g.1806102G>CCA355982417FGFR3c.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
4g.1806102G=CA1433507795FGFR3c.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=
4g.1806102G>TCA355982419FGFR3c.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
4g.1806103T>ACA355982421FGFR3c.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
4g.1806103T>CCA355982425FGFR3c.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
4g.1806103T>GCA355982423FGFR3c.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
4g.1806104G>ACA438063165FGFR3c.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
4g.1806104G>CCA438063164FGFR3c.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
4g.1806104G=CA1433507796FGFR3c.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=
4g.1806104G>TCA438063163FGFR3c.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
4g.1806105A>CCA355982426FGFR3c.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
4g.1806105A>GCA355982427FGFR3c.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
4g.1806105A>TCA355982429FGFR3c.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
4g.1806106T>ACA355982431FGFR3c.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
4g.1806106T>CCA355982433FGFR3c.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
4g.1806106T>GCA355982435FGFR3c.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
4g.1806107G>ACA355982437FGFR3c.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
4g.1806107G>CCA355982439FGFR3c.1899G>C (p.Met633Ile)
c.*949G>C (n.*949G>C)
c.1557G>C (p.Met519Ile)
c.1881G>C (p.Met627Ile)
c.1893G>C (p.Met631Ile)
c.1896G>C (p.Met632Ile)
c.1905G>C (p.Met635Ile)
c.1902G>C (p.Met634Ile)
n.2300G>C
n.2319G>C
dbSNP
4g.1806107G>TCA355982441FGFR3c.1899G>T (p.Met633Ile)
c.*949G>T (n.*949G>T)
c.1557G>T (p.Met519Ile)
c.1881G>T (p.Met627Ile)
c.1893G>T (p.Met631Ile)
c.1896G>T (p.Met632Ile)
c.1905G>T (p.Met635Ile)
c.1902G>T (p.Met634Ile)
n.2300G>T
n.2319G>T
4g.1806108A>CCA355982445FGFR3c.1900A>C (p.Lys634Gln)
c.*950A>C (n.*950A>C)
c.1558A>C (p.Lys520Gln)
c.1882A>C (p.Lys628Gln)
c.1894A>C (p.Lys632Gln)
c.1897A>C (p.Lys633Gln)
c.1906A>C (p.Lys636Gln)
c.1903A>C (p.Lys635Gln)
n.2301A>C
n.2320A>C
4g.1806108A>GCA355982447FGFR3c.1900A>G (p.Lys634Glu)
c.*950A>G (n.*950A>G)
c.1558A>G (p.Lys520Glu)
c.1882A>G (p.Lys628Glu)
c.1894A>G (p.Lys632Glu)
c.1897A>G (p.Lys633Glu)
c.1906A>G (p.Lys636Glu)
c.1903A>G (p.Lys635Glu)
n.2301A>G
n.2320A>G
dbSNP
4g.1806108A>TCA355982443FGFR3c.1900A>T (p.Lys634Ter)
c.*950A>T (n.*950A>T)
c.1558A>T (p.Lys520Ter)
c.1882A>T (p.Lys628Ter)
c.1894A>T (p.Lys632Ter)
c.1897A>T (p.Lys633Ter)
c.1906A>T (p.Lys636Ter)
c.1903A>T (p.Lys635Ter)
n.2301A>T
n.2320A>T
dbSNP
4g.1806109A>CCA355982449FGFR3c.1901A>C (p.Lys634Thr)
c.*951A>C (n.*951A>C)
c.1559A>C (p.Lys520Thr)
c.1883A>C (p.Lys628Thr)
c.1895A>C (p.Lys632Thr)
c.1898A>C (p.Lys633Thr)
c.1907A>C (p.Lys636Thr)
c.1904A>C (p.Lys635Thr)
n.2302A>C
n.2321A>C
4g.1806109A>GCA355982451FGFR3c.1901A>G (p.Lys634Arg)
c.*951A>G (n.*951A>G)
c.1559A>G (p.Lys520Arg)
c.1883A>G (p.Lys628Arg)
c.1895A>G (p.Lys632Arg)
c.1898A>G (p.Lys633Arg)
c.1907A>G (p.Lys636Arg)
c.1904A>G (p.Lys635Arg)
n.2302A>G
n.2321A>G
dbSNP
4g.1806109A>TCA355982452FGFR3c.1901A>T (p.Lys634Met)
c.*951A>T (n.*951A>T)
c.1559A>T (p.Lys520Met)
c.1883A>T (p.Lys628Met)
c.1895A>T (p.Lys632Met)
c.1898A>T (p.Lys633Met)
c.1907A>T (p.Lys636Met)
c.1904A>T (p.Lys635Met)
n.2302A>T
n.2321A>T
dbSNP
4g.1806110G>ACA438063172FGFR3c.1902G>A (p.Lys634=)
c.*952G>A (n.*952G>A)
c.1560G>A (p.Lys520=)
c.1884G>A (p.Lys628=)
c.1896G>A (p.Lys632=)
c.1899G>A (p.Lys633=)
c.1908G>A (p.Lys636=)
c.1905G>A (p.Lys635=)
n.2303G>A
n.2322G>A
dbSNP
4g.1806110G>CCA355982454FGFR3c.1902G>C (p.Lys634Asn)
c.*952G>C (n.*952G>C)
c.1560G>C (p.Lys520Asn)
c.1884G>C (p.Lys628Asn)
c.1896G>C (p.Lys632Asn)
c.1899G>C (p.Lys633Asn)
c.1908G>C (p.Lys636Asn)
c.1905G>C (p.Lys635Asn)
n.2303G>C
n.2322G>C
dbSNP
4g.1806110G>TCA355982456FGFR3c.1902G>T (p.Lys634Asn)
c.*952G>T (n.*952G>T)
c.1560G>T (p.Lys520Asn)
c.1884G>T (p.Lys628Asn)
c.1896G>T (p.Lys632Asn)
c.1899G>T (p.Lys633Asn)
c.1908G>T (p.Lys636Asn)
c.1905G>T (p.Lys635Asn)
n.2303G>T
n.2322G>T
4g.1806111A>CCA355982462FGFR3c.1903A>C (p.Ile635Leu)
c.*953A>C (n.*953A>C)
c.1561A>C (p.Ile521Leu)
c.1885A>C (p.Ile629Leu)
c.1897A>C (p.Ile633Leu)
c.1900A>C (p.Ile634Leu)
c.1909A>C (p.Ile637Leu)
c.1906A>C (p.Ile636Leu)
n.2304A>C
n.2323A>C
dbSNP
4g.1806111A>GCA355982458FGFR3c.1903A>G (p.Ile635Val)
c.*953A>G (n.*953A>G)
c.1561A>G (p.Ile521Val)
c.1885A>G (p.Ile629Val)
c.1897A>G (p.Ile633Val)
c.1900A>G (p.Ile634Val)
c.1909A>G (p.Ile637Val)
c.1906A>G (p.Ile636Val)
n.2304A>G
n.2323A>G
dbSNP
4g.1806111A>TCA355982460FGFR3c.1903A>T (p.Ile635Phe)
c.*953A>T (n.*953A>T)
c.1561A>T (p.Ile521Phe)
c.1885A>T (p.Ile629Phe)
c.1897A>T (p.Ile633Phe)
c.1900A>T (p.Ile634Phe)
c.1909A>T (p.Ile637Phe)
c.1906A>T (p.Ile636Phe)
n.2304A>T
n.2323A>T
4g.1806112T>ACA355982464FGFR3c.1904T>A (p.Ile635Asn)
c.*954T>A (n.*954T>A)
c.1562T>A (p.Ile521Asn)
c.1886T>A (p.Ile629Asn)
c.1898T>A (p.Ile633Asn)
c.1901T>A (p.Ile634Asn)
c.1910T>A (p.Ile637Asn)
c.1907T>A (p.Ile636Asn)
n.2305T>A
n.2324T>A
dbSNP
4g.1806112T>CCA355982466FGFR3c.1904T>C (p.Ile635Thr)
c.*954T>C (n.*954T>C)
c.1562T>C (p.Ile521Thr)
c.1886T>C (p.Ile629Thr)
c.1898T>C (p.Ile633Thr)
c.1901T>C (p.Ile634Thr)
c.1910T>C (p.Ile637Thr)
c.1907T>C (p.Ile636Thr)
n.2305T>C
n.2324T>C
4g.1806112T>GCA355982468FGFR3c.1904T>G (p.Ile635Ser)
c.*954T>G (n.*954T>G)
c.1562T>G (p.Ile521Ser)
c.1886T>G (p.Ile629Ser)
c.1898T>G (p.Ile633Ser)
c.1901T>G (p.Ile634Ser)
c.1910T>G (p.Ile637Ser)
c.1907T>G (p.Ile636Ser)
n.2305T>G
n.2324T>G
dbSNP
4g.1806113C>ACA438063173FGFR3c.1905C>A (p.Ile635=)
c.*955C>A (n.*955C>A)
c.1563C>A (p.Ile521=)
c.1887C>A (p.Ile629=)
c.1899C>A (p.Ile633=)
c.1902C>A (p.Ile634=)
c.1911C>A (p.Ile637=)
c.1908C>A (p.Ile636=)
n.2306C>A
n.2325C>A
dbSNP
4g.1806113C=CA1433507797FGFR3c.1905C= (p.Ile635=)
c.*955C= (n.*955C=)
c.1563C= (p.Ile521=)
c.1887C= (p.Ile629=)
c.1899C= (p.Ile633=)
c.1902C= (p.Ile634=)
c.1911C= (p.Ile637=)
c.1908C= (p.Ile636=)
n.2306C=
n.2325C=
4g.1806113C>GCA355982470FGFR3c.1905C>G (p.Ile635Met)
c.*955C>G (n.*955C>G)
c.1563C>G (p.Ile521Met)
c.1887C>G (p.Ile629Met)
c.1899C>G (p.Ile633Met)
c.1902C>G (p.Ile634Met)
c.1911C>G (p.Ile637Met)
c.1908C>G (p.Ile636Met)
n.2306C>G
n.2325C>G
dbSNP
4g.1806113C>TCA2810622FGFR3c.1905C>T (p.Ile635=)
c.*955C>T (n.*955C>T)
c.1563C>T (p.Ile521=)
c.1887C>T (p.Ile629=)
c.1899C>T (p.Ile633=)
c.1902C>T (p.Ile634=)
c.1911C>T (p.Ile637=)
c.1908C>T (p.Ile636=)
n.2306C>T
n.2325C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1806114G>ACA355982474FGFR3c.1906G>A (p.Ala636Thr)
c.*956G>A (n.*956G>A)
c.1564G>A (p.Ala522Thr)
c.1888G>A (p.Ala630Thr)
c.1900G>A (p.Ala634Thr)
c.1903G>A (p.Ala635Thr)
c.1912G>A (p.Ala638Thr)
c.1909G>A (p.Ala637Thr)
n.2307G>A
n.2326G>A
ClinVar dbSNP
4g.1806114G>CCA355982477FGFR3c.1906G>C (p.Ala636Pro)
c.*956G>C (n.*956G>C)
c.1564G>C (p.Ala522Pro)
c.1888G>C (p.Ala630Pro)
c.1900G>C (p.Ala634Pro)
c.1903G>C (p.Ala635Pro)
c.1912G>C (p.Ala638Pro)
c.1909G>C (p.Ala637Pro)
n.2307G>C
n.2326G>C
dbSNP
4g.1806114G>TCA355982475FGFR3c.1906G>T (p.Ala636Ser)
c.*956G>T (n.*956G>T)
c.1564G>T (p.Ala522Ser)
c.1888G>T (p.Ala630Ser)
c.1900G>T (p.Ala634Ser)
c.1903G>T (p.Ala635Ser)
c.1912G>T (p.Ala638Ser)
c.1909G>T (p.Ala637Ser)
n.2307G>T
n.2326G>T
dbSNP
4g.1806115C>ACA355982480FGFR3c.1907C>A (p.Ala636Glu)
c.*957C>A (n.*957C>A)
c.1565C>A (p.Ala522Glu)
c.1889C>A (p.Ala630Glu)
c.1901C>A (p.Ala634Glu)
c.1904C>A (p.Ala635Glu)
c.1913C>A (p.Ala638Glu)
c.1910C>A (p.Ala637Glu)
n.2308C>A
n.2327C>A
4g.1806115C=CA1433507798FGFR3c.1907C= (p.Ala636=)
c.*957C= (n.*957C=)
c.1565C= (p.Ala522=)
c.1889C= (p.Ala630=)
c.1901C= (p.Ala634=)
c.1904C= (p.Ala635=)
c.1913C= (p.Ala638=)
c.1910C= (p.Ala637=)
n.2308C=
n.2327C=
4g.1806115C>GCA2810623FGFR3c.1907C>G (p.Ala636Gly)
c.*957C>G (n.*957C>G)
c.1565C>G (p.Ala522Gly)
c.1889C>G (p.Ala630Gly)
c.1901C>G (p.Ala634Gly)
c.1904C>G (p.Ala635Gly)
c.1913C>G (p.Ala638Gly)
c.1910C>G (p.Ala637Gly)
n.2308C>G
n.2327C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1806115C>TCA355982481FGFR3c.1907C>T (p.Ala636Val)
c.*957C>T (n.*957C>T)
c.1565C>T (p.Ala522Val)
c.1889C>T (p.Ala630Val)
c.1901C>T (p.Ala634Val)
c.1904C>T (p.Ala635Val)
c.1913C>T (p.Ala638Val)
c.1910C>T (p.Ala637Val)
n.2308C>T
n.2327C>T
dbSNP
4g.1806116A>CCA438063178FGFR3c.1908A>C (p.Ala636=)
c.*958A>C (n.*958A>C)
c.1566A>C (p.Ala522=)
c.1890A>C (p.Ala630=)
c.1902A>C (p.Ala634=)
c.1905A>C (p.Ala635=)
c.1914A>C (p.Ala638=)
c.1911A>C (p.Ala637=)
n.2309A>C
n.2328A>C
4g.1806116A>GCA438063180FGFR3c.1908A>G (p.Ala636=)
c.*958A>G (n.*958A>G)
c.1566A>G (p.Ala522=)
c.1890A>G (p.Ala630=)
c.1902A>G (p.Ala634=)
c.1905A>G (p.Ala635=)
c.1914A>G (p.Ala638=)
c.1911A>G (p.Ala637=)
n.2309A>G
n.2328A>G
dbSNP
4g.1806116A>TCA438063181FGFR3c.1908A>T (p.Ala636=)
c.*958A>T (n.*958A>T)
c.1566A>T (p.Ala522=)
c.1890A>T (p.Ala630=)
c.1902A>T (p.Ala634=)
c.1905A>T (p.Ala635=)
c.1914A>T (p.Ala638=)
c.1911A>T (p.Ala637=)
n.2309A>T
n.2328A>T
dbSNP
4g.1806117G>ACA355982484FGFR3c.1909G>A (p.Asp637Asn)
c.*959G>A (n.*959G>A)
c.1567G>A (p.Asp523Asn)
c.1891G>A (p.Asp631Asn)
c.1903G>A (p.Asp635Asn)
c.1906G>A (p.Asp636Asn)
c.1915G>A (p.Asp639Asn)
c.1912G>A (p.Asp638Asn)
n.2310G>A
n.2329G>A
dbSNP
4g.1806117G>CCA355982485FGFR3c.1909G>C (p.Asp637His)
c.*959G>C (n.*959G>C)
c.1567G>C (p.Asp523His)
c.1891G>C (p.Asp631His)
c.1903G>C (p.Asp635His)
c.1906G>C (p.Asp636His)
c.1915G>C (p.Asp639His)
c.1912G>C (p.Asp638His)
n.2310G>C
n.2329G>C
dbSNP
4g.1806117G>TCA355982487FGFR3c.1909G>T (p.Asp637Tyr)
c.*959G>T (n.*959G>T)
c.1567G>T (p.Asp523Tyr)
c.1891G>T (p.Asp631Tyr)
c.1903G>T (p.Asp635Tyr)
c.1906G>T (p.Asp636Tyr)
c.1915G>T (p.Asp639Tyr)
c.1912G>T (p.Asp638Tyr)
n.2310G>T
n.2329G>T
dbSNP
4g.1806118A>CCA355982489FGFR3c.1910A>C (p.Asp637Ala)
c.*960A>C (n.*960A>C)
c.1568A>C (p.Asp523Ala)
c.1892A>C (p.Asp631Ala)
c.1904A>C (p.Asp635Ala)
c.1907A>C (p.Asp636Ala)
c.1916A>C (p.Asp639Ala)
c.1913A>C (p.Asp638Ala)
n.2311A>C
n.2330A>C
dbSNP
4g.1806118A>GCA355982491FGFR3c.1910A>G (p.Asp637Gly)
c.*960A>G (n.*960A>G)
c.1568A>G (p.Asp523Gly)
c.1892A>G (p.Asp631Gly)
c.1904A>G (p.Asp635Gly)
c.1907A>G (p.Asp636Gly)
c.1916A>G (p.Asp639Gly)
c.1913A>G (p.Asp638Gly)
n.2311A>G
n.2330A>G
dbSNP
4g.1806118A>TCA355982492FGFR3c.1910A>T (p.Asp637Val)
c.*960A>T (n.*960A>T)
c.1568A>T (p.Asp523Val)
c.1892A>T (p.Asp631Val)
c.1904A>T (p.Asp635Val)
c.1907A>T (p.Asp636Val)
c.1916A>T (p.Asp639Val)
c.1913A>T (p.Asp638Val)
n.2311A>T
n.2330A>T
dbSNP
4g.1806119C>ACA355982494FGFR3c.1911C>A (p.Asp637Glu)
c.*961C>A (n.*961C>A)
c.1569C>A (p.Asp523Glu)
c.1893C>A (p.Asp631Glu)
c.1905C>A (p.Asp635Glu)
c.1908C>A (p.Asp636Glu)
c.1917C>A (p.Asp639Glu)
c.1914C>A (p.Asp638Glu)
n.2312C>A
n.2331C>A
dbSNP
4g.1806119C>GCA355982497FGFR3c.1911C>G (p.Asp637Glu)
c.*961C>G (n.*961C>G)
c.1569C>G (p.Asp523Glu)
c.1893C>G (p.Asp631Glu)
c.1905C>G (p.Asp635Glu)
c.1908C>G (p.Asp636Glu)
c.1917C>G (p.Asp639Glu)
c.1914C>G (p.Asp638Glu)
n.2312C>G
n.2331C>G
dbSNP
4g.1806119C>TCA438063186FGFR3c.1911C>T (p.Asp637=)
c.*961C>T (n.*961C>T)
c.1569C>T (p.Asp523=)
c.1893C>T (p.Asp631=)
c.1905C>T (p.Asp635=)
c.1908C>T (p.Asp636=)
c.1917C>T (p.Asp639=)
c.1914C>T (p.Asp638=)
n.2312C>T
n.2331C>T
dbSNP
4g.1806120T>ACA355982503FGFR3c.1912T>A (p.Phe638Ile)
c.*962T>A (n.*962T>A)
c.1570T>A (p.Phe524Ile)
c.1894T>A (p.Phe632Ile)
c.1906T>A (p.Phe636Ile)
c.1909T>A (p.Phe637Ile)
c.1918T>A (p.Phe640Ile)
c.1915T>A (p.Phe639Ile)
n.2313T>A
n.2332T>A
dbSNP
4g.1806120T>CCA355982501FGFR3c.1912T>C (p.Phe638Leu)
c.*962T>C (n.*962T>C)
c.1570T>C (p.Phe524Leu)
c.1894T>C (p.Phe632Leu)
c.1906T>C (p.Phe636Leu)
c.1909T>C (p.Phe637Leu)
c.1918T>C (p.Phe640Leu)
c.1915T>C (p.Phe639Leu)
n.2313T>C
n.2332T>C
dbSNP
4g.1806120T>GCA355982499FGFR3c.1912T>G (p.Phe638Val)
c.*962T>G (n.*962T>G)
c.1570T>G (p.Phe524Val)
c.1894T>G (p.Phe632Val)
c.1906T>G (p.Phe636Val)
c.1909T>G (p.Phe637Val)
c.1918T>G (p.Phe640Val)
c.1915T>G (p.Phe639Val)
n.2313T>G
n.2332T>G
4g.1806121T>ACA355982504FGFR3c.1913T>A (p.Phe638Tyr)
c.*963T>A (n.*963T>A)
c.1571T>A (p.Phe524Tyr)
c.1895T>A (p.Phe632Tyr)
c.1907T>A (p.Phe636Tyr)
c.1910T>A (p.Phe637Tyr)
c.1919T>A (p.Phe640Tyr)
c.1916T>A (p.Phe639Tyr)
n.2314T>A
n.2333T>A
dbSNP
4g.1806121T>CCA355982506FGFR3c.1913T>C (p.Phe638Ser)
c.*963T>C (n.*963T>C)
c.1571T>C (p.Phe524Ser)
c.1895T>C (p.Phe632Ser)
c.1907T>C (p.Phe636Ser)
c.1910T>C (p.Phe637Ser)
c.1919T>C (p.Phe640Ser)
c.1916T>C (p.Phe639Ser)
n.2314T>C
n.2333T>C
dbSNP
4g.1806121T>GCA355982505FGFR3c.1913T>G (p.Phe638Cys)
c.*963T>G (n.*963T>G)
c.1571T>G (p.Phe524Cys)
c.1895T>G (p.Phe632Cys)
c.1907T>G (p.Phe636Cys)
c.1910T>G (p.Phe637Cys)
c.1919T>G (p.Phe640Cys)
c.1916T>G (p.Phe639Cys)
n.2314T>G
n.2333T>G
4g.1806122C>ACA355982507FGFR3c.1914C>A (p.Phe638Leu)
c.*964C>A (n.*964C>A)
c.1572C>A (p.Phe524Leu)
c.1896C>A (p.Phe632Leu)
c.1908C>A (p.Phe636Leu)
c.1911C>A (p.Phe637Leu)
c.1920C>A (p.Phe640Leu)
c.1917C>A (p.Phe639Leu)
n.2315C>A
n.2334C>A
4g.1806122C=CA1433507799FGFR3c.1914C= (p.Phe638=)
c.*964C= (n.*964C=)
c.1572C= (p.Phe524=)
c.1896C= (p.Phe632=)
c.1908C= (p.Phe636=)
c.1911C= (p.Phe637=)
c.1920C= (p.Phe640=)
c.1917C= (p.Phe639=)
n.2315C=
n.2334C=
4g.1806122C>GCA156287FGFR3c.1914C>G (p.Phe638Leu)
c.*964C>G (n.*964C>G)
c.1572C>G (p.Phe524Leu)
c.1896C>G (p.Phe632Leu)
c.1908C>G (p.Phe636Leu)
c.1911C>G (p.Phe637Leu)
c.1920C>G (p.Phe640Leu)
c.1917C>G (p.Phe639Leu)
n.2315C>G
n.2334C>G
ClinVar dbSNP
4g.1806122C>TCA438063190FGFR3c.1914C>T (p.Phe638=)
c.*964C>T (n.*964C>T)
c.1572C>T (p.Phe524=)
c.1896C>T (p.Phe632=)
c.1908C>T (p.Phe636=)
c.1911C>T (p.Phe637=)
c.1920C>T (p.Phe640=)
c.1917C>T (p.Phe639=)
n.2315C>T
n.2334C>T
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.1806123G>ACA355982508FGFR3c.1915G>A (p.Gly639Arg)
c.*965G>A (n.*965G>A)
c.1573G>A (p.Gly525Arg)
c.1897G>A (p.Gly633Arg)
c.1909G>A (p.Gly637Arg)
c.1912G>A (p.Gly638Arg)
c.1921G>A (p.Gly641Arg)
c.1918G>A (p.Gly640Arg)
n.2316G>A
n.2335G>A
dbSNP
4g.1806123G>CCA355982509FGFR3c.1915G>C (p.Gly639Arg)
c.*965G>C (n.*965G>C)
c.1573G>C (p.Gly525Arg)
c.1897G>C (p.Gly633Arg)
c.1909G>C (p.Gly637Arg)
c.1912G>C (p.Gly638Arg)
c.1921G>C (p.Gly641Arg)
c.1918G>C (p.Gly640Arg)
n.2316G>C
n.2335G>C
dbSNP
4g.1806123G>TCA355982510FGFR3c.1915G>T (p.Gly639Trp)
c.*965G>T (n.*965G>T)
c.1573G>T (p.Gly525Trp)
c.1897G>T (p.Gly633Trp)
c.1909G>T (p.Gly637Trp)
c.1912G>T (p.Gly638Trp)
c.1921G>T (p.Gly641Trp)
c.1918G>T (p.Gly640Trp)
n.2316G>T
n.2335G>T
dbSNP COSMIC
4g.1806124G>ACA355982511FGFR3c.1916G>A (p.Gly639Glu)
c.*966G>A (n.*966G>A)
c.1574G>A (p.Gly525Glu)
c.1898G>A (p.Gly633Glu)
c.1910G>A (p.Gly637Glu)
c.1913G>A (p.Gly638Glu)
c.1922G>A (p.Gly641Glu)
c.1919G>A (p.Gly640Glu)
n.2317G>A
n.2336G>A
ClinVar dbSNP
4g.1806124G>CCA355982512FGFR3c.1916G>C (p.Gly639Ala)
c.*966G>C (n.*966G>C)
c.1574G>C (p.Gly525Ala)
c.1898G>C (p.Gly633Ala)
c.1910G>C (p.Gly637Ala)
c.1913G>C (p.Gly638Ala)
c.1922G>C (p.Gly641Ala)
c.1919G>C (p.Gly640Ala)
n.2317G>C
n.2336G>C
dbSNP
4g.1806124G>TCA355982513FGFR3c.1916G>T (p.Gly639Val)
c.*966G>T (n.*966G>T)
c.1574G>T (p.Gly525Val)
c.1898G>T (p.Gly633Val)
c.1910G>T (p.Gly637Val)
c.1913G>T (p.Gly638Val)
c.1922G>T (p.Gly641Val)
c.1919G>T (p.Gly640Val)
n.2317G>T
n.2336G>T
dbSNP COSMIC COSMIC
4g.1806125G>ACA438063195FGFR3c.1917G>A (p.Gly639=)
c.*967G>A (n.*967G>A)
c.1575G>A (p.Gly525=)
c.1899G>A (p.Gly633=)
c.1911G>A (p.Gly637=)
c.1914G>A (p.Gly638=)
c.1923G>A (p.Gly641=)
c.1920G>A (p.Gly640=)
n.2318G>A
n.2337G>A
dbSNP
4g.1806125G>CCA438063196FGFR3c.1917G>C (p.Gly639=)
c.*967G>C (n.*967G>C)
c.1575G>C (p.Gly525=)
c.1899G>C (p.Gly633=)
c.1911G>C (p.Gly637=)
c.1914G>C (p.Gly638=)
c.1923G>C (p.Gly641=)
c.1920G>C (p.Gly640=)
n.2318G>C
n.2337G>C
dbSNP
4g.1806125G>TCA438063194FGFR3c.1917G>T (p.Gly639=)
c.*967G>T (n.*967G>T)
c.1575G>T (p.Gly525=)
c.1899G>T (p.Gly633=)
c.1911G>T (p.Gly637=)
c.1914G>T (p.Gly638=)
c.1923G>T (p.Gly641=)
c.1920G>T (p.Gly640=)
n.2318G>T
n.2337G>T
gnomAD v4
4g.1806126C>ACA355982514FGFR3c.1918C>A (p.Leu640Met)
c.*968C>A (n.*968C>A)
c.1576C>A (p.Leu526Met)
c.1900C>A (p.Leu634Met)
c.1912C>A (p.Leu638Met)
c.1915C>A (p.Leu639Met)
c.1924C>A (p.Leu642Met)
c.1921C>A (p.Leu641Met)
n.2319C>A
n.2338C>A
dbSNP
4g.1806126C=CA1433507800FGFR3c.1918C= (p.Leu640=)
c.*968C= (n.*968C=)
c.1576C= (p.Leu526=)
c.1900C= (p.Leu634=)
c.1912C= (p.Leu638=)
c.1915C= (p.Leu639=)
c.1924C= (p.Leu642=)
c.1921C= (p.Leu641=)
n.2319C=
n.2338C=
4g.1806126C>GCA355982515FGFR3c.1918C>G (p.Leu640Val)
c.*968C>G (n.*968C>G)
c.1576C>G (p.Leu526Val)
c.1900C>G (p.Leu634Val)
c.1912C>G (p.Leu638Val)
c.1915C>G (p.Leu639Val)
c.1924C>G (p.Leu642Val)
c.1921C>G (p.Leu641Val)
n.2319C>G
n.2338C>G
dbSNP
4g.1806126C>TCA438063197FGFR3c.1918C>T (p.Leu640=)
c.*968C>T (n.*968C>T)
c.1576C>T (p.Leu526=)
c.1900C>T (p.Leu634=)
c.1912C>T (p.Leu638=)
c.1915C>T (p.Leu639=)
c.1924C>T (p.Leu642=)
c.1921C>T (p.Leu641=)
n.2319C>T
n.2338C>T
dbSNP gnomAD v2 gnomAD v4
4g.1806127T>ACA355982516FGFR3c.1919T>A (p.Leu640Gln)
c.*969T>A (n.*969T>A)
c.1577T>A (p.Leu526Gln)
c.1901T>A (p.Leu634Gln)
c.1913T>A (p.Leu638Gln)
c.1916T>A (p.Leu639Gln)
c.1925T>A (p.Leu642Gln)
c.1922T>A (p.Leu641Gln)
n.2320T>A
n.2339T>A
4g.1806127T>CCA355982517FGFR3c.1919T>C (p.Leu640Pro)
c.*969T>C (n.*969T>C)
c.1577T>C (p.Leu526Pro)
c.1901T>C (p.Leu634Pro)
c.1913T>C (p.Leu638Pro)
c.1916T>C (p.Leu639Pro)
c.1925T>C (p.Leu642Pro)
c.1922T>C (p.Leu641Pro)
n.2320T>C
n.2339T>C
4g.1806127T>GCA355982518FGFR3c.1919T>G (p.Leu640Arg)
c.*969T>G (n.*969T>G)
c.1577T>G (p.Leu526Arg)
c.1901T>G (p.Leu634Arg)
c.1913T>G (p.Leu638Arg)
c.1916T>G (p.Leu639Arg)
c.1925T>G (p.Leu642Arg)
c.1922T>G (p.Leu641Arg)
n.2320T>G
n.2339T>G
dbSNP
4g.1806128G>ACA2810624FGFR3c.1920G>A (p.Leu640=)
c.*970G>A (n.*970G>A)
c.1578G>A (p.Leu526=)
c.1902G>A (p.Leu634=)
c.1914G>A (p.Leu638=)
c.1917G>A (p.Leu639=)
c.1926G>A (p.Leu642=)
c.1923G>A (p.Leu641=)
n.2321G>A
n.2340G>A
dbSNP ExAC gnomAD v2 gnomAD v4
4g.1806128G>CCA438063203FGFR3c.1920G>C (p.Leu640=)
c.*970G>C (n.*970G>C)
c.1578G>C (p.Leu526=)
c.1902G>C (p.Leu634=)
c.1914G>C (p.Leu638=)
c.1917G>C (p.Leu639=)
c.1926G>C (p.Leu642=)
c.1923G>C (p.Leu641=)
n.2321G>C
n.2340G>C
dbSNP
4g.1806128G=CA1433507801FGFR3c.1920G= (p.Leu640=)
c.*970G= (n.*970G=)
c.1578G= (p.Leu526=)
c.1902G= (p.Leu634=)
c.1914G= (p.Leu638=)
c.1917G= (p.Leu639=)
c.1926G= (p.Leu642=)
c.1923G= (p.Leu641=)
n.2321G=
n.2340G=
4g.1806128G>TCA438063201FGFR3c.1920G>T (p.Leu640=)
c.*970G>T (n.*970G>T)
c.1578G>T (p.Leu526=)
c.1902G>T (p.Leu634=)
c.1914G>T (p.Leu638=)
c.1917G>T (p.Leu639=)
c.1926G>T (p.Leu642=)
c.1923G>T (p.Leu641=)
n.2321G>T
n.2340G>T
dbSNP
4g.1806129G>ACA355982519FGFR3c.1921G>A (p.Ala641Thr)
c.*971G>A (n.*971G>A)
c.1579G>A (p.Ala527Thr)
c.1903G>A (p.Ala635Thr)
c.1915G>A (p.Ala639Thr)
c.1918G>A (p.Ala640Thr)
c.1927G>A (p.Ala643Thr)
c.1924G>A (p.Ala642Thr)
n.2322G>A
n.2341G>A
ClinVar
4g.1806129G>CCA355982520FGFR3c.1921G>C (p.Ala641Pro)
c.*971G>C (n.*971G>C)
c.1579G>C (p.Ala527Pro)
c.1903G>C (p.Ala635Pro)
c.1915G>C (p.Ala639Pro)
c.1918G>C (p.Ala640Pro)
c.1927G>C (p.Ala643Pro)
c.1924G>C (p.Ala642Pro)
n.2322G>C
n.2341G>C
4g.1806129G>TCA355982521FGFR3c.1921G>T (p.Ala641Ser)
c.*971G>T (n.*971G>T)
c.1579G>T (p.Ala527Ser)
c.1903G>T (p.Ala635Ser)
c.1915G>T (p.Ala639Ser)
c.1918G>T (p.Ala640Ser)
c.1927G>T (p.Ala643Ser)
c.1924G>T (p.Ala642Ser)
n.2322G>T
n.2341G>T
4g.1806130C>ACA355982522FGFR3c.1922C>A (p.Ala641Asp)
c.*972C>A (n.*972C>A)
c.1580C>A (p.Ala527Asp)
c.1904C>A (p.Ala635Asp)
c.1916C>A (p.Ala639Asp)
c.1919C>A (p.Ala640Asp)
c.1928C>A (p.Ala643Asp)
c.1925C>A (p.Ala642Asp)
n.2323C>A
n.2342C>A
dbSNP
4g.1806130C>GCA355982523FGFR3c.1922C>G (p.Ala641Gly)
c.*972C>G (n.*972C>G)
c.1580C>G (p.Ala527Gly)
c.1904C>G (p.Ala635Gly)
c.1916C>G (p.Ala639Gly)
c.1919C>G (p.Ala640Gly)
c.1928C>G (p.Ala643Gly)
c.1925C>G (p.Ala642Gly)
n.2323C>G
n.2342C>G
dbSNP
4g.1806130C>TCA355982524FGFR3c.1922C>T (p.Ala641Val)
c.*972C>T (n.*972C>T)
c.1580C>T (p.Ala527Val)
c.1904C>T (p.Ala635Val)
c.1916C>T (p.Ala639Val)
c.1919C>T (p.Ala640Val)
c.1928C>T (p.Ala643Val)
c.1925C>T (p.Ala642Val)
n.2323C>T
n.2342C>T
ClinVar dbSNP
4g.1806131C>ACA438063205FGFR3c.1923C>A (p.Ala641=)
c.*973C>A (n.*973C>A)
c.1581C>A (p.Ala527=)
c.1905C>A (p.Ala635=)
c.1917C>A (p.Ala639=)
c.1920C>A (p.Ala640=)
c.1929C>A (p.Ala643=)
c.1926C>A (p.Ala642=)
n.2324C>A
n.2343C>A
4g.1806131C>GCA438063206FGFR3c.1923C>G (p.Ala641=)
c.*973C>G (n.*973C>G)
c.1581C>G (p.Ala527=)
c.1905C>G (p.Ala635=)
c.1917C>G (p.Ala639=)
c.1920C>G (p.Ala640=)
c.1929C>G (p.Ala643=)
c.1926C>G (p.Ala642=)
n.2324C>G
n.2343C>G
dbSNP
4g.1806131C>TCA438063207FGFR3c.1923C>T (p.Ala641=)
c.*973C>T (n.*973C>T)
c.1581C>T (p.Ala527=)
c.1905C>T (p.Ala635=)
c.1917C>T (p.Ala639=)
c.1920C>T (p.Ala640=)
c.1929C>T (p.Ala643=)
c.1926C>T (p.Ala642=)
n.2324C>T
n.2343C>T
4g.1806132C>ACA438063209FGFR3c.1924C>A (p.Arg642=)
c.*974C>A (n.*974C>A)
c.1582C>A (p.Arg528=)
c.1906C>A (p.Arg636=)
c.1918C>A (p.Arg640=)
c.1921C>A (p.Arg641=)
c.1930C>A (p.Arg644=)
c.1927C>A (p.Arg643=)
n.2325C>A
n.2344C>A
dbSNP gnomAD v4
4g.1806132C>GCA355982525FGFR3c.1924C>G (p.Arg642Gly)
c.*974C>G (n.*974C>G)
c.1582C>G (p.Arg528Gly)
c.1906C>G (p.Arg636Gly)
c.1918C>G (p.Arg640Gly)
c.1921C>G (p.Arg641Gly)
c.1930C>G (p.Arg644Gly)
c.1927C>G (p.Arg643Gly)
n.2325C>G
n.2344C>G
dbSNP
4g.1806132C>TCA355982526FGFR3c.1924C>T (p.Arg642Trp)
c.*974C>T (n.*974C>T)
c.1582C>T (p.Arg528Trp)
c.1906C>T (p.Arg636Trp)
c.1918C>T (p.Arg640Trp)
c.1921C>T (p.Arg641Trp)
c.1930C>T (p.Arg644Trp)
c.1927C>T (p.Arg643Trp)
n.2325C>T
n.2344C>T
dbSNP COSMIC COSMIC
4g.1806133G>ACA355982527FGFR3c.1925G>A (p.Arg642Gln)
c.*975G>A (n.*975G>A)
c.1583G>A (p.Arg528Gln)
c.1907G>A (p.Arg636Gln)
c.1919G>A (p.Arg640Gln)
c.1922G>A (p.Arg641Gln)
c.1931G>A (p.Arg644Gln)
c.1928G>A (p.Arg643Gln)
n.2326G>A
n.2345G>A
dbSNP gnomAD v2
4g.1806133G>CCA355982528FGFR3c.1925G>C (p.Arg642Pro)
c.*975G>C (n.*975G>C)
c.1583G>C (p.Arg528Pro)
c.1907G>C (p.Arg636Pro)
c.1919G>C (p.Arg640Pro)
c.1922G>C (p.Arg641Pro)
c.1931G>C (p.Arg644Pro)
c.1928G>C (p.Arg643Pro)
n.2326G>C
n.2345G>C
4g.1806133G=CA1433507802FGFR3c.1925G= (p.Arg642=)
c.*975G= (n.*975G=)
c.1583G= (p.Arg528=)
c.1907G= (p.Arg636=)
c.1919G= (p.Arg640=)
c.1922G= (p.Arg641=)
c.1931G= (p.Arg644=)
c.1928G= (p.Arg643=)
n.2326G=
n.2345G=
4g.1806133G>TCA355982529FGFR3c.1925G>T (p.Arg642Leu)
c.*975G>T (n.*975G>T)
c.1583G>T (p.Arg528Leu)
c.1907G>T (p.Arg636Leu)
c.1919G>T (p.Arg640Leu)
c.1922G>T (p.Arg641Leu)
c.1931G>T (p.Arg644Leu)
c.1928G>T (p.Arg643Leu)
n.2326G>T
n.2345G>T
gnomAD v4
4g.1806134G>ACA438063212FGFR3c.1926G>A (p.Arg642=)
c.*976G>A (n.*976G>A)
c.1584G>A (p.Arg528=)
c.1908G>A (p.Arg636=)
c.1920G>A (p.Arg640=)
c.1923G>A (p.Arg641=)
c.1932G>A (p.Arg644=)
c.1929G>A (p.Arg643=)
n.2327G>A
n.2346G>A
4g.1806134G>CCA438063213FGFR3c.1926G>C (p.Arg642=)
c.*976G>C (n.*976G>C)
c.1584G>C (p.Arg528=)
c.1908G>C (p.Arg636=)
c.1920G>C (p.Arg640=)
c.1923G>C (p.Arg641=)
c.1932G>C (p.Arg644=)
c.1929G>C (p.Arg643=)
n.2327G>C
n.2346G>C
4g.1806134G>TCA438063214FGFR3c.1926G>T (p.Arg642=)
c.*976G>T (n.*976G>T)
c.1584G>T (p.Arg528=)
c.1908G>T (p.Arg636=)
c.1920G>T (p.Arg640=)
c.1923G>T (p.Arg641=)
c.1932G>T (p.Arg644=)
c.1929G>T (p.Arg643=)
n.2327G>T
n.2346G>T
4g.1806135G>ACA355982532FGFR3c.1927G>A (p.Asp643Asn)
c.*977G>A (n.*977G>A)
c.1585G>A (p.Asp529Asn)
c.1909G>A (p.Asp637Asn)
c.1921G>A (p.Asp641Asn)
c.1924G>A (p.Asp642Asn)
c.1933G>A (p.Asp645Asn)
c.1930G>A (p.Asp644Asn)
n.2328G>A
n.2347G>A
ClinVar dbSNP COSMIC
4g.1806135G>CCA355982531FGFR3c.1927G>C (p.Asp643His)
c.*977G>C (n.*977G>C)
c.1585G>C (p.Asp529His)
c.1909G>C (p.Asp637His)
c.1921G>C (p.Asp641His)
c.1924G>C (p.Asp642His)
c.1933G>C (p.Asp645His)
c.1930G>C (p.Asp644His)
n.2328G>C
n.2347G>C
dbSNP
4g.1806135G>TCA355982530FGFR3c.1927G>T (p.Asp643Tyr)
c.*977G>T (n.*977G>T)
c.1585G>T (p.Asp529Tyr)
c.1909G>T (p.Asp637Tyr)
c.1921G>T (p.Asp641Tyr)
c.1924G>T (p.Asp642Tyr)
c.1933G>T (p.Asp645Tyr)
c.1930G>T (p.Asp644Tyr)
n.2328G>T
n.2347G>T
4g.1806135_1806136delinsATCA1139658401FGFR3c.1927_1928delinsAT (p.Asp643Ile)
c.*977_*978delinsAT (n.*977_*978delinsAT)
c.1585_1586delinsAT (p.Asp529Ile)
c.1909_1910delinsAT (p.Asp637Ile)
c.1921_1922delinsAT (p.Asp641Ile)
c.1924_1925delinsAT (p.Asp642Ile)
c.1933_1934delinsAT (p.Asp645Ile)
c.1930_1931delinsAT (p.Asp644Ile)
n.2328_2329delinsAT
n.2347_2348delinsAT
ClinVar dbSNP
4g.1806135_1806136delinsGACA1433507803FGFR3c.1927_1928delinsGA (p.Asp643=)
c.*977_*978delinsGA (n.*977_*978delinsGA)
c.1585_1586delinsGA (p.Asp529=)
c.1909_1910delinsGA (p.Asp637=)
c.1921_1922delinsGA (p.Asp641=)
c.1924_1925delinsGA (p.Asp642=)
c.1933_1934delinsGA (p.Asp645=)
c.1930_1931delinsGA (p.Asp644=)
n.2328_2329delinsGA
n.2347_2348delinsGA
4g.1806136A=CA1433507804FGFR3c.1928A= (p.Asp643=)
c.*978A= (n.*978A=)
c.1586A= (p.Asp529=)
c.1910A= (p.Asp637=)
c.1922A= (p.Asp641=)
c.1925A= (p.Asp642=)
c.1934A= (p.Asp645=)
c.1931A= (p.Asp644=)
n.2329A=
n.2348A=
4g.1806136A>CCA355982533FGFR3c.1928A>C (p.Asp643Ala)
c.*978A>C (n.*978A>C)
c.1586A>C (p.Asp529Ala)
c.1910A>C (p.Asp637Ala)
c.1922A>C (p.Asp641Ala)
c.1925A>C (p.Asp642Ala)
c.1934A>C (p.Asp645Ala)
c.1931A>C (p.Asp644Ala)
n.2329A>C
n.2348A>C
dbSNP
4g.1806136A>GCA355982534FGFR3c.1928A>G (p.Asp643Gly)
c.*978A>G (n.*978A>G)
c.1586A>G (p.Asp529Gly)
c.1910A>G (p.Asp637Gly)
c.1922A>G (p.Asp641Gly)
c.1925A>G (p.Asp642Gly)
c.1934A>G (p.Asp645Gly)
c.1931A>G (p.Asp644Gly)
n.2329A>G
n.2348A>G
dbSNP gnomAD v4
4g.1806136A>TCA355982535FGFR3c.1928A>T (p.Asp643Val)
c.*978A>T (n.*978A>T)
c.1586A>T (p.Asp529Val)
c.1910A>T (p.Asp637Val)
c.1922A>T (p.Asp641Val)
c.1925A>T (p.Asp642Val)
c.1934A>T (p.Asp645Val)
c.1931A>T (p.Asp644Val)
n.2329A>T
n.2348A>T
ClinVar dbSNP
4g.1806137C>ACA355982536FGFR3c.1929C>A (p.Asp643Glu)
c.*979C>A (n.*979C>A)
c.1587C>A (p.Asp529Glu)
c.1911C>A (p.Asp637Glu)
c.1923C>A (p.Asp641Glu)
c.1926C>A (p.Asp642Glu)
c.1935C>A (p.Asp645Glu)
c.1932C>A (p.Asp644Glu)
n.2330C>A
n.2349C>A
dbSNP
4g.1806137C=CA1433507805FGFR3c.1929C= (p.Asp643=)
c.*979C= (n.*979C=)
c.1587C= (p.Asp529=)
c.1911C= (p.Asp637=)
c.1923C= (p.Asp641=)
c.1926C= (p.Asp642=)
c.1935C= (p.Asp645=)
c.1932C= (p.Asp644=)
n.2330C=
n.2349C=
4g.1806137C>GCA355982537FGFR3c.1929C>G (p.Asp643Glu)
c.*979C>G (n.*979C>G)
c.1587C>G (p.Asp529Glu)
c.1911C>G (p.Asp637Glu)
c.1923C>G (p.Asp641Glu)
c.1926C>G (p.Asp642Glu)
c.1935C>G (p.Asp645Glu)
c.1932C>G (p.Asp644Glu)
n.2330C>G
n.2349C>G
dbSNP
4g.1806137C>TCA2810625FGFR3c.1929C>T (p.Asp643=)
c.*979C>T (n.*979C>T)
c.1587C>T (p.Asp529=)
c.1911C>T (p.Asp637=)
c.1923C>T (p.Asp641=)
c.1926C>T (p.Asp642=)
c.1935C>T (p.Asp645=)
c.1932C>T (p.Asp644=)
n.2330C>T
n.2349C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1806138G>ACA2810626FGFR3c.1930G>A (p.Val644Met)
c.*980G>A (n.*980G>A)
c.1588G>A (p.Val530Met)
c.1912G>A (p.Val638Met)
c.1924G>A (p.Val642Met)
c.1927G>A (p.Val643Met)
c.1936G>A (p.Val646Met)
c.1933G>A (p.Val645Met)
n.2331G>A
n.2350G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.1806138G>CCA355982538FGFR3c.1930G>C (p.Val644Leu)
c.*980G>C (n.*980G>C)
c.1588G>C (p.Val530Leu)
c.1912G>C (p.Val638Leu)
c.1924G>C (p.Val642Leu)
c.1927G>C (p.Val643Leu)
c.1936G>C (p.Val646Leu)
c.1933G>C (p.Val645Leu)
n.2331G>C
n.2350G>C
dbSNP gnomAD v4 COSMIC
4g.1806138G=CA1433507806FGFR3c.1930G= (p.Val644=)
c.*980G= (n.*980G=)
c.1588G= (p.Val530=)
c.1912G= (p.Val638=)
c.1924G= (p.Val642=)
c.1927G= (p.Val643=)
c.1936G= (p.Val646=)
c.1933G= (p.Val645=)
n.2331G=
n.2350G=
4g.1806138G>TCA355982539FGFR3c.1930G>T (p.Val644Leu)
c.*980G>T (n.*980G>T)
c.1588G>T (p.Val530Leu)
c.1912G>T (p.Val638Leu)
c.1924G>T (p.Val642Leu)
c.1927G>T (p.Val643Leu)
c.1936G>T (p.Val646Leu)
c.1933G>T (p.Val645Leu)
n.2331G>T
n.2350G>T
dbSNP gnomAD v3 gnomAD v4
4g.1806139T>ACA355982540FGFR3c.1931T>A (p.Val644Glu)
c.*981T>A (n.*981T>A)
c.1589T>A (p.Val530Glu)
c.1913T>A (p.Val638Glu)
c.1925T>A (p.Val642Glu)
c.1928T>A (p.Val643Glu)
c.1937T>A (p.Val646Glu)
c.1934T>A (p.Val645Glu)
n.2332T>A
n.2351T>A
dbSNP
4g.1806139T>CCA355982541FGFR3c.1931T>C (p.Val644Ala)
c.*981T>C (n.*981T>C)
c.1589T>C (p.Val530Ala)
c.1913T>C (p.Val638Ala)
c.1925T>C (p.Val642Ala)
c.1928T>C (p.Val643Ala)
c.1937T>C (p.Val646Ala)
c.1934T>C (p.Val645Ala)
n.2332T>C
n.2351T>C
dbSNP
4g.1806139T>GCA355982542FGFR3c.1931T>G (p.Val644Gly)
c.*981T>G (n.*981T>G)
c.1589T>G (p.Val530Gly)
c.1913T>G (p.Val638Gly)
c.1925T>G (p.Val642Gly)
c.1928T>G (p.Val643Gly)
c.1937T>G (p.Val646Gly)
c.1934T>G (p.Val645Gly)
n.2332T>G
n.2351T>G
dbSNP
4g.1806140G>ACA438063229FGFR3c.1932G>A (p.Val644=)
c.*982G>A (n.*982G>A)
c.1590G>A (p.Val530=)
c.1914G>A (p.Val638=)
c.1926G>A (p.Val642=)
c.1929G>A (p.Val643=)
c.1938G>A (p.Val646=)
c.1935G>A (p.Val645=)
n.2333G>A
n.2352G>A
gnomAD v4
4g.1806140G>CCA438063227FGFR3c.1932G>C (p.Val644=)
c.*982G>C (n.*982G>C)
c.1590G>C (p.Val530=)
c.1914G>C (p.Val638=)
c.1926G>C (p.Val642=)
c.1929G>C (p.Val643=)
c.1938G>C (p.Val646=)
c.1935G>C (p.Val645=)
n.2333G>C
n.2352G>C
4g.1806140G>TCA438063228FGFR3c.1932G>T (p.Val644=)
c.*982G>T (n.*982G>T)
c.1590G>T (p.Val530=)
c.1914G>T (p.Val638=)
c.1926G>T (p.Val642=)
c.1929G>T (p.Val643=)
c.1938G>T (p.Val646=)
c.1935G>T (p.Val645=)
n.2333G>T
n.2352G>T
4g.1806141C>ACA355982545FGFR3c.1933C>A (p.His645Asn)
c.*983C>A (n.*983C>A)
c.1591C>A (p.His531Asn)
c.1915C>A (p.His639Asn)
c.1927C>A (p.His643Asn)
c.1930C>A (p.His644Asn)
c.1939C>A (p.His647Asn)
c.1936C>A (p.His646Asn)
n.2334C>A
n.2353C>A
4g.1806141C>GCA355982543FGFR3c.1933C>G (p.His645Asp)
c.*983C>G (n.*983C>G)
c.1591C>G (p.His531Asp)
c.1915C>G (p.His639Asp)
c.1927C>G (p.His643Asp)
c.1930C>G (p.His644Asp)
c.1939C>G (p.His647Asp)
c.1936C>G (p.His646Asp)
n.2334C>G
n.2353C>G
dbSNP COSMIC
4g.1806141C>TCA355982544FGFR3c.1933C>T (p.His645Tyr)
c.*983C>T (n.*983C>T)
c.1591C>T (p.His531Tyr)
c.1915C>T (p.His639Tyr)
c.1927C>T (p.His643Tyr)
c.1930C>T (p.His644Tyr)
c.1939C>T (p.His647Tyr)
c.1936C>T (p.His646Tyr)
n.2334C>T
n.2353C>T
dbSNP
4g.1806142A>CCA355982546FGFR3c.1934A>C (p.His645Pro)
c.*984A>C (n.*984A>C)
c.1592A>C (p.His531Pro)
c.1916A>C (p.His639Pro)
c.1928A>C (p.His643Pro)
c.1931A>C (p.His644Pro)
c.1940A>C (p.His647Pro)
c.1937A>C (p.His646Pro)
n.2335A>C
n.2354A>C
dbSNP
4g.1806142A>GCA355982547FGFR3c.1934A>G (p.His645Arg)
c.*984A>G (n.*984A>G)
c.1592A>G (p.His531Arg)
c.1916A>G (p.His639Arg)
c.1928A>G (p.His643Arg)
c.1931A>G (p.His644Arg)
c.1940A>G (p.His647Arg)
c.1937A>G (p.His646Arg)
n.2335A>G
n.2354A>G
gnomAD v4
4g.1806142A>TCA355982548FGFR3c.1934A>T (p.His645Leu)
c.*984A>T (n.*984A>T)
c.1592A>T (p.His531Leu)
c.1916A>T (p.His639Leu)
c.1928A>T (p.His643Leu)
c.1931A>T (p.His644Leu)
c.1940A>T (p.His647Leu)
c.1937A>T (p.His646Leu)
n.2335A>T
n.2354A>T
dbSNP
4g.1806143C>ACA355982549FGFR3c.1935C>A (p.His645Gln)
c.*985C>A (n.*985C>A)
c.1593C>A (p.His531Gln)
c.1917C>A (p.His639Gln)
c.1929C>A (p.His643Gln)
c.1932C>A (p.His644Gln)
c.1941C>A (p.His647Gln)
c.1938C>A (p.His646Gln)
n.2336C>A
n.2355C>A
4g.1806143C=CA1433507807FGFR3c.1935C= (p.His645=)
c.*985C= (n.*985C=)
c.1593C= (p.His531=)
c.1917C= (p.His639=)
c.1929C= (p.His643=)
c.1932C= (p.His644=)
c.1941C= (p.His647=)
c.1938C= (p.His646=)
n.2336C=
n.2355C=
4g.1806143C>GCA355982550FGFR3c.1935C>G (p.His645Gln)
c.*985C>G (n.*985C>G)
c.1593C>G (p.His531Gln)
c.1917C>G (p.His639Gln)
c.1929C>G (p.His643Gln)
c.1932C>G (p.His644Gln)
c.1941C>G (p.His647Gln)
c.1938C>G (p.His646Gln)
n.2336C>G
n.2355C>G
dbSNP
4g.1806143C>TCA2810627FGFR3c.1935C>T (p.His645=)
c.*985C>T (n.*985C>T)
c.1593C>T (p.His531=)
c.1917C>T (p.His639=)
c.1929C>T (p.His643=)
c.1932C>T (p.His644=)
c.1941C>T (p.His647=)
c.1938C>T (p.His646=)
n.2336C>T
n.2355C>T
dbSNP ExAC gnomAD v2 gnomAD v4
4g.1806144A>CCA355982551FGFR3c.1936A>C (p.Asn646His)
c.*986A>C (n.*986A>C)
c.1594A>C (p.Asn532His)
c.1918A>C (p.Asn640His)
c.1930A>C (p.Asn644His)
c.1933A>C (p.Asn645His)
c.1942A>C (p.Asn648His)
c.1939A>C (p.Asn647His)
n.2337A>C
n.2356A>C
4g.1806144A>GCA355982552FGFR3c.1936A>G (p.Asn646Asp)
c.*986A>G (n.*986A>G)
c.1594A>G (p.Asn532Asp)
c.1918A>G (p.Asn640Asp)
c.1930A>G (p.Asn644Asp)
c.1933A>G (p.Asn645Asp)
c.1942A>G (p.Asn648Asp)
c.1939A>G (p.Asn647Asp)
n.2337A>G
n.2356A>G
COSMIC
4g.1806144A>TCA355982553FGFR3c.1936A>T (p.Asn646Tyr)
c.*986A>T (n.*986A>T)
c.1594A>T (p.Asn532Tyr)
c.1918A>T (p.Asn640Tyr)
c.1930A>T (p.Asn644Tyr)
c.1933A>T (p.Asn645Tyr)
c.1942A>T (p.Asn648Tyr)
c.1939A>T (p.Asn647Tyr)
n.2337A>T
n.2356A>T
dbSNP
4g.1806145A>CCA355982554FGFR3c.1937A>C (p.Asn646Thr)
c.*987A>C (n.*987A>C)
c.1595A>C (p.Asn532Thr)
c.1919A>C (p.Asn640Thr)
c.1931A>C (p.Asn644Thr)
c.1934A>C (p.Asn645Thr)
c.1943A>C (p.Asn648Thr)
c.1940A>C (p.Asn647Thr)
n.2338A>C
n.2357A>C
dbSNP
4g.1806145A>GCA355982555FGFR3c.1937A>G (p.Asn646Ser)
c.*987A>G (n.*987A>G)
c.1595A>G (p.Asn532Ser)
c.1919A>G (p.Asn640Ser)
c.1931A>G (p.Asn644Ser)
c.1934A>G (p.Asn645Ser)
c.1943A>G (p.Asn648Ser)
c.1940A>G (p.Asn647Ser)
n.2338A>G
n.2357A>G
4g.1806145A>TCA355982556FGFR3c.1937A>T (p.Asn646Ile)
c.*987A>T (n.*987A>T)
c.1595A>T (p.Asn532Ile)
c.1919A>T (p.Asn640Ile)
c.1931A>T (p.Asn644Ile)
c.1934A>T (p.Asn645Ile)
c.1943A>T (p.Asn648Ile)
c.1940A>T (p.Asn647Ile)
n.2338A>T
n.2357A>T
dbSNP
4g.1806146C>ACA355982557FGFR3c.1938C>A (p.Asn646Lys)
c.*988C>A (n.*988C>A)
c.1596C>A (p.Asn532Lys)
c.1920C>A (p.Asn640Lys)
c.1932C>A (p.Asn644Lys)
c.1935C>A (p.Asn645Lys)
c.1944C>A (p.Asn648Lys)
c.1941C>A (p.Asn647Lys)
n.2339C>A
n.2358C>A
4g.1806146C=CA1433507808FGFR3c.1938C= (p.Asn646=)
c.*988C= (n.*988C=)
c.1596C= (p.Asn532=)
c.1920C= (p.Asn640=)
c.1932C= (p.Asn644=)
c.1935C= (p.Asn645=)
c.1944C= (p.Asn648=)
c.1941C= (p.Asn647=)
n.2339C=
n.2358C=
4g.1806146C>GCA355982558FGFR3c.1938C>G (p.Asn646Lys)
c.*988C>G (n.*988C>G)
c.1596C>G (p.Asn532Lys)
c.1920C>G (p.Asn640Lys)
c.1932C>G (p.Asn644Lys)
c.1935C>G (p.Asn645Lys)
c.1944C>G (p.Asn648Lys)
c.1941C>G (p.Asn647Lys)
n.2339C>G
n.2358C>G
dbSNP gnomAD v2
4g.1806146C>TCA91257465FGFR3c.1938C>T (p.Asn646=)
c.*988C>T (n.*988C>T)
c.1596C>T (p.Asn532=)
c.1920C>T (p.Asn640=)
c.1932C>T (p.Asn644=)
c.1935C>T (p.Asn645=)
c.1944C>T (p.Asn648=)
c.1941C>T (p.Asn647=)
n.2339C>T
n.2358C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1806147C>ACA355982560FGFR3c.1939C>A (p.Leu647Ile)
c.*989C>A (n.*989C>A)
c.1597C>A (p.Leu533Ile)
c.1921C>A (p.Leu641Ile)
c.1933C>A (p.Leu645Ile)
c.1936C>A (p.Leu646Ile)
c.1945C>A (p.Leu649Ile)
c.1942C>A (p.Leu648Ile)
n.2340C>A
n.2359C>A
4g.1806147C=CA1433507809FGFR3c.1939C= (p.Leu647=)
c.*989C= (n.*989C=)
c.1597C= (p.Leu533=)
c.1921C= (p.Leu641=)
c.1933C= (p.Leu645=)
c.1936C= (p.Leu646=)
c.1945C= (p.Leu649=)
c.1942C= (p.Leu648=)
n.2340C=
n.2359C=
4g.1806147C>GCA355982559FGFR3c.1939C>G (p.Leu647Val)
c.*989C>G (n.*989C>G)
c.1597C>G (p.Leu533Val)
c.1921C>G (p.Leu641Val)
c.1933C>G (p.Leu645Val)
c.1936C>G (p.Leu646Val)
c.1945C>G (p.Leu649Val)
c.1942C>G (p.Leu648Val)
n.2340C>G
n.2359C>G
dbSNP gnomAD v2 gnomAD v4 COSMIC
4g.1806147C>TCA355982561FGFR3c.1939C>T (p.Leu647Phe)
c.*989C>T (n.*989C>T)
c.1597C>T (p.Leu533Phe)
c.1921C>T (p.Leu641Phe)
c.1933C>T (p.Leu645Phe)
c.1936C>T (p.Leu646Phe)
c.1945C>T (p.Leu649Phe)
c.1942C>T (p.Leu648Phe)
n.2340C>T
n.2359C>T
4g.1806148T>ACA355982562FGFR3c.1940T>A (p.Leu647His)
c.*990T>A (n.*990T>A)
c.1598T>A (p.Leu533His)
c.1922T>A (p.Leu641His)
c.1934T>A (p.Leu645His)
c.1937T>A (p.Leu646His)
c.1946T>A (p.Leu649His)
c.1943T>A (p.Leu648His)
n.2341T>A
n.2360T>A
dbSNP
4g.1806148T>CCA355982563FGFR3c.1940T>C (p.Leu647Pro)
c.*990T>C (n.*990T>C)
c.1598T>C (p.Leu533Pro)
c.1922T>C (p.Leu641Pro)
c.1934T>C (p.Leu645Pro)
c.1937T>C (p.Leu646Pro)
c.1946T>C (p.Leu649Pro)
c.1943T>C (p.Leu648Pro)
n.2341T>C
n.2360T>C
dbSNP
4g.1806148T>GCA355982564FGFR3c.1940T>G (p.Leu647Arg)
c.*990T>G (n.*990T>G)
c.1598T>G (p.Leu533Arg)
c.1922T>G (p.Leu641Arg)
c.1934T>G (p.Leu645Arg)
c.1937T>G (p.Leu646Arg)
c.1946T>G (p.Leu649Arg)
c.1943T>G (p.Leu648Arg)
n.2341T>G
n.2360T>G
4g.1806149C>ACA438063240FGFR3c.1941C>A (p.Leu647=)
c.*991C>A (n.*991C>A)
c.1599C>A (p.Leu533=)
c.1923C>A (p.Leu641=)
c.1935C>A (p.Leu645=)
c.1938C>A (p.Leu646=)
c.1947C>A (p.Leu649=)
c.1944C>A (p.Leu648=)
n.2342C>A
n.2361C>A
dbSNP
4g.1806149C=CA1433507810FGFR3c.1941C= (p.Leu647=)
c.*991C= (n.*991C=)
c.1599C= (p.Leu533=)
c.1923C= (p.Leu641=)
c.1935C= (p.Leu645=)
c.1938C= (p.Leu646=)
c.1947C= (p.Leu649=)
c.1944C= (p.Leu648=)
n.2342C=
n.2361C=
4g.1806149C>GCA438063241FGFR3c.1941C>G (p.Leu647=)
c.*991C>G (n.*991C>G)
c.1599C>G (p.Leu533=)
c.1923C>G (p.Leu641=)
c.1935C>G (p.Leu645=)
c.1938C>G (p.Leu646=)
c.1947C>G (p.Leu649=)
c.1944C>G (p.Leu648=)
n.2342C>G
n.2361C>G
dbSNP gnomAD v2 gnomAD v4
4g.1806149C>TCA156290FGFR3c.1941C>T (p.Leu647=)
c.*991C>T (n.*991C>T)
c.1599C>T (p.Leu533=)
c.1923C>T (p.Leu641=)
c.1935C>T (p.Leu645=)
c.1938C>T (p.Leu646=)
c.1947C>T (p.Leu649=)
c.1944C>T (p.Leu648=)
n.2342C>T
n.2361C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1806150G>ACA355982565FGFR3c.1942G>A (p.Asp648Asn)
c.*992G>A (n.*992G>A)
c.1600G>A (p.Asp534Asn)
c.1924G>A (p.Asp642Asn)
c.1936G>A (p.Asp646Asn)
c.1939G>A (p.Asp647Asn)
c.1948G>A (p.Asp650Asn)
c.1945G>A (p.Asp649Asn)
n.2343G>A
n.2362G>A
dbSNP COSMIC COSMIC
4g.1806150G>CCA355982566FGFR3c.1942G>C (p.Asp648His)
c.*992G>C (n.*992G>C)
c.1600G>C (p.Asp534His)
c.1924G>C (p.Asp642His)
c.1936G>C (p.Asp646His)
c.1939G>C (p.Asp647His)
c.1948G>C (p.Asp650His)
c.1945G>C (p.Asp649His)
n.2343G>C
n.2362G>C
4g.1806150G=CA1433507811FGFR3c.1942G= (p.Asp648=)
c.*992G= (n.*992G=)
c.1600G= (p.Asp534=)
c.1924G= (p.Asp642=)
c.1936G= (p.Asp646=)
c.1939G= (p.Asp647=)
c.1948G= (p.Asp650=)
c.1945G= (p.Asp649=)
n.2343G=
n.2362G=
4g.1806150G>TCA355982567FGFR3c.1942G>T (p.Asp648Tyr)
c.*992G>T (n.*992G>T)
c.1600G>T (p.Asp534Tyr)
c.1924G>T (p.Asp642Tyr)
c.1936G>T (p.Asp646Tyr)
c.1939G>T (p.Asp647Tyr)
c.1948G>T (p.Asp650Tyr)
c.1945G>T (p.Asp649Tyr)
n.2343G>T
n.2362G>T
dbSNP COSMIC
4g.1806151A>CCA355982568FGFR3c.1943A>C (p.Asp648Ala)
c.*993A>C (n.*993A>C)
c.1601A>C (p.Asp534Ala)
c.1925A>C (p.Asp642Ala)
c.1937A>C (p.Asp646Ala)
c.1940A>C (p.Asp647Ala)
c.1949A>C (p.Asp650Ala)
c.1946A>C (p.Asp649Ala)
n.2344A>C
n.2363A>C
dbSNP
4g.1806151A>GCA355982569FGFR3c.1943A>G (p.Asp648Gly)
c.*993A>G (n.*993A>G)
c.1601A>G (p.Asp534Gly)
c.1925A>G (p.Asp642Gly)
c.1937A>G (p.Asp646Gly)
c.1940A>G (p.Asp647Gly)
c.1949A>G (p.Asp650Gly)
c.1946A>G (p.Asp649Gly)
n.2344A>G
n.2363A>G
4g.1806151A>TCA355982570FGFR3c.1943A>T (p.Asp648Val)
c.*993A>T (n.*993A>T)
c.1601A>T (p.Asp534Val)
c.1925A>T (p.Asp642Val)
c.1937A>T (p.Asp646Val)
c.1940A>T (p.Asp647Val)
c.1949A>T (p.Asp650Val)
c.1946A>T (p.Asp649Val)
n.2344A>T
n.2363A>T
dbSNP
4g.1806152C>ACA355982571FGFR3c.1944C>A (p.Asp648Glu)
c.*994C>A (n.*994C>A)
c.1602C>A (p.Asp534Glu)
c.1926C>A (p.Asp642Glu)
c.1938C>A (p.Asp646Glu)
c.1941C>A (p.Asp647Glu)
c.1950C>A (p.Asp650Glu)
c.1947C>A (p.Asp649Glu)
n.2345C>A
n.2364C>A
dbSNP gnomAD v4
4g.1806152C=CA1433507812FGFR3c.1944C= (p.Asp648=)
c.*994C= (n.*994C=)
c.1602C= (p.Asp534=)
c.1926C= (p.Asp642=)
c.1938C= (p.Asp646=)
c.1941C= (p.Asp647=)
c.1950C= (p.Asp650=)
c.1947C= (p.Asp649=)
n.2345C=
n.2364C=
4g.1806152C>GCA355982572FGFR3c.1944C>G (p.Asp648Glu)
c.*994C>G (n.*994C>G)
c.1602C>G (p.Asp534Glu)
c.1926C>G (p.Asp642Glu)
c.1938C>G (p.Asp646Glu)
c.1941C>G (p.Asp647Glu)
c.1950C>G (p.Asp650Glu)
c.1947C>G (p.Asp649Glu)
n.2345C>G
n.2364C>G
dbSNP
4g.1806152C>TCA2810628FGFR3c.1944C>T (p.Asp648=)
c.*994C>T (n.*994C>T)
c.1602C>T (p.Asp534=)
c.1926C>T (p.Asp642=)
c.1938C>T (p.Asp646=)
c.1941C>T (p.Asp647=)
c.1950C>T (p.Asp650=)
c.1947C>T (p.Asp649=)
n.2345C>T
n.2364C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1806153T>ACA355982573FGFR3c.1945T>A (p.Tyr649Asn)
c.*995T>A (n.*995T>A)
c.1603T>A (p.Tyr535Asn)
c.1927T>A (p.Tyr643Asn)
c.1939T>A (p.Tyr647Asn)
c.1942T>A (p.Tyr648Asn)
c.1951T>A (p.Tyr651Asn)
c.1948T>A (p.Tyr650Asn)
n.2346T>A
n.2365T>A
4g.1806153T>CCA355982575FGFR3c.1945T>C (p.Tyr649His)
c.*995T>C (n.*995T>C)
c.1603T>C (p.Tyr535His)
c.1927T>C (p.Tyr643His)
c.1939T>C (p.Tyr647His)
c.1942T>C (p.Tyr648His)
c.1951T>C (p.Tyr651His)
c.1948T>C (p.Tyr650His)
n.2346T>C
n.2365T>C
4g.1806153T>GCA355982574FGFR3c.1945T>G (p.Tyr649Asp)
c.*995T>G (n.*995T>G)
c.1603T>G (p.Tyr535Asp)
c.1927T>G (p.Tyr643Asp)
c.1939T>G (p.Tyr647Asp)
c.1942T>G (p.Tyr648Asp)
c.1951T>G (p.Tyr651Asp)
c.1948T>G (p.Tyr650Asp)
n.2346T>G
n.2365T>G
4g.1806154A>CCA355982576FGFR3c.1946A>C (p.Tyr649Ser)
c.*996A>C (n.*996A>C)
c.1604A>C (p.Tyr535Ser)
c.1928A>C (p.Tyr643Ser)
c.1940A>C (p.Tyr647Ser)
c.1943A>C (p.Tyr648Ser)
c.1952A>C (p.Tyr651Ser)
c.1949A>C (p.Tyr650Ser)
n.2347A>C
n.2366A>C
dbSNP
4g.1806154A>GCA355982577FGFR3c.1946A>G (p.Tyr649Cys)
c.*996A>G (n.*996A>G)
c.1604A>G (p.Tyr535Cys)
c.1928A>G (p.Tyr643Cys)
c.1940A>G (p.Tyr647Cys)
c.1943A>G (p.Tyr648Cys)
c.1952A>G (p.Tyr651Cys)
c.1949A>G (p.Tyr650Cys)
n.2347A>G
n.2366A>G
4g.1806154A>TCA355982578FGFR3c.1946A>T (p.Tyr649Phe)
c.*996A>T (n.*996A>T)
c.1604A>T (p.Tyr535Phe)
c.1928A>T (p.Tyr643Phe)
c.1940A>T (p.Tyr647Phe)
c.1943A>T (p.Tyr648Phe)
c.1952A>T (p.Tyr651Phe)
c.1949A>T (p.Tyr650Phe)
n.2347A>T
n.2366A>T
dbSNP
4g.1806155C>ACA355982579FGFR3c.1947C>A (p.Tyr649Ter)
c.*997C>A (n.*997C>A)
c.1605C>A (p.Tyr535Ter)
c.1929C>A (p.Tyr643Ter)
c.1941C>A (p.Tyr647Ter)
c.1944C>A (p.Tyr648Ter)
c.1953C>A (p.Tyr651Ter)
c.1950C>A (p.Tyr650Ter)
n.2348C>A
n.2367C>A
dbSNP
4g.1806155C>GCA355982580FGFR3c.1947C>G (p.Tyr649Ter)
c.*997C>G (n.*997C>G)
c.1605C>G (p.Tyr535Ter)
c.1929C>G (p.Tyr643Ter)
c.1941C>G (p.Tyr647Ter)
c.1944C>G (p.Tyr648Ter)
c.1953C>G (p.Tyr651Ter)
c.1950C>G (p.Tyr650Ter)
n.2348C>G
n.2367C>G
dbSNP
4g.1806155C>TCA438063253FGFR3c.1947C>T (p.Tyr649=)
c.*997C>T (n.*997C>T)
c.1605C>T (p.Tyr535=)
c.1929C>T (p.Tyr643=)
c.1941C>T (p.Tyr647=)
c.1944C>T (p.Tyr648=)
c.1953C>T (p.Tyr651=)
c.1950C>T (p.Tyr650=)
n.2348C>T
n.2367C>T
dbSNP COSMIC
4g.1806156T>ACA355982581FGFR3c.1948T>A (p.Tyr650Asn)
c.*998T>A (n.*998T>A)
c.1606T>A (p.Tyr536Asn)
c.1930T>A (p.Tyr644Asn)
c.1942T>A (p.Tyr648Asn)
c.1945T>A (p.Tyr649Asn)
c.1954T>A (p.Tyr652Asn)
c.1951T>A (p.Tyr651Asn)
n.2349T>A
n.2368T>A
dbSNP
4g.1806156T>CCA355982582FGFR3c.1948T>C (p.Tyr650His)
c.*998T>C (n.*998T>C)
c.1606T>C (p.Tyr536His)
c.1930T>C (p.Tyr644His)
c.1942T>C (p.Tyr648His)
c.1945T>C (p.Tyr649His)
c.1954T>C (p.Tyr652His)
c.1951T>C (p.Tyr651His)
n.2349T>C
n.2368T>C
dbSNP
4g.1806156T>GCA355982583FGFR3c.1948T>G (p.Tyr650Asp)
c.*998T>G (n.*998T>G)
c.1606T>G (p.Tyr536Asp)
c.1930T>G (p.Tyr644Asp)
c.1942T>G (p.Tyr648Asp)
c.1945T>G (p.Tyr649Asp)
c.1954T>G (p.Tyr652Asp)
c.1951T>G (p.Tyr651Asp)
n.2349T>G
n.2368T>G
4g.1806157A=CA1433507813FGFR3c.1949A= (p.Tyr650=)
c.*999A= (n.*999A=)
c.1607A= (p.Tyr536=)
c.1931A= (p.Tyr644=)
c.1943A= (p.Tyr648=)
c.1946A= (p.Tyr649=)
c.1955A= (p.Tyr652=)
c.1952A= (p.Tyr651=)
n.2350A=
n.2369A=
4g.1806157A>CCA16603111FGFR3c.1949A>C (p.Tyr650Ser)
c.*999A>C (n.*999A>C)
c.1607A>C (p.Tyr536Ser)
c.1931A>C (p.Tyr644Ser)
c.1943A>C (p.Tyr648Ser)
c.1946A>C (p.Tyr649Ser)
c.1955A>C (p.Tyr652Ser)
c.1952A>C (p.Tyr651Ser)
n.2350A>C
n.2369A>C
ClinVar dbSNP
4g.1806157A>GCA91257471FGFR3c.1949A>G (p.Tyr650Cys)
c.*999A>G (n.*999A>G)
c.1607A>G (p.Tyr536Cys)
c.1931A>G (p.Tyr644Cys)
c.1943A>G (p.Tyr648Cys)
c.1946A>G (p.Tyr649Cys)
c.1955A>G (p.Tyr652Cys)
c.1952A>G (p.Tyr651Cys)
n.2350A>G
n.2369A>G
dbSNP
4g.1806157A>TCA16603110FGFR3c.1949A>T (p.Tyr650Phe)
c.*999A>T (n.*999A>T)
c.1607A>T (p.Tyr536Phe)
c.1931A>T (p.Tyr644Phe)
c.1943A>T (p.Tyr648Phe)
c.1946A>T (p.Tyr649Phe)
c.1955A>T (p.Tyr652Phe)
c.1952A>T (p.Tyr651Phe)
n.2350A>T
n.2369A>T
ClinVar dbSNP
4g.1806158C>ACA355982584FGFR3c.1950C>A (p.Tyr650Ter)
c.*1000C>A (n.*1000C>A)
c.1608C>A (p.Tyr536Ter)
c.1932C>A (p.Tyr644Ter)
c.1944C>A (p.Tyr648Ter)
c.1947C>A (p.Tyr649Ter)
c.1956C>A (p.Tyr652Ter)
c.1953C>A (p.Tyr651Ter)
n.2351C>A
n.2370C>A
dbSNP
4g.1806158C=CA1433507815FGFR3c.1950C= (p.Tyr650=)
c.*1000C= (n.*1000C=)
c.1608C= (p.Tyr536=)
c.1932C= (p.Tyr644=)
c.1944C= (p.Tyr648=)
c.1947C= (p.Tyr649=)
c.1956C= (p.Tyr652=)
c.1953C= (p.Tyr651=)
n.2351C=
n.2370C=
4g.1806158C>GCA355982585FGFR3c.1950C>G (p.Tyr650Ter)
c.*1000C>G (n.*1000C>G)
c.1608C>G (p.Tyr536Ter)
c.1932C>G (p.Tyr644Ter)
c.1944C>G (p.Tyr648Ter)
c.1947C>G (p.Tyr649Ter)
c.1956C>G (p.Tyr652Ter)
c.1953C>G (p.Tyr651Ter)
n.2351C>G
n.2370C>G
dbSNP
4g.1806158C>TCA2810629FGFR3c.1950C>T (p.Tyr650=)
c.*1000C>T (n.*1000C>T)
c.1608C>T (p.Tyr536=)
c.1932C>T (p.Tyr644=)
c.1944C>T (p.Tyr648=)
c.1947C>T (p.Tyr649=)
c.1956C>T (p.Tyr652=)
c.1953C>T (p.Tyr651=)
n.2351C>T
n.2370C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1806158_1806161delinsCAAGCA1433507814FGFR3c.1950_1953delinsCAAG (p.Tyr650=)
c.*1000_*1003delinsCAAG (n.*1000_*1003delinsCAAG)
c.1608_1611delinsCAAG (p.Tyr536=)
c.1932_1935delinsCAAG (p.Tyr644=)
c.1944_1947delinsCAAG (p.Tyr648=)
c.1947_1950delinsCAAG (p.Tyr649=)
c.1956_1959delinsCAAG (p.Tyr652=)
c.1953_1956delinsCAAG (p.Tyr651=)
n.2351_2354delinsCAAG
n.2370_2373delinsCAAG
4g.1806159A>CCA355982586FGFR3c.1951A>C (p.Lys651Gln)
c.*1001A>C (n.*1001A>C)
c.1609A>C (p.Lys537Gln)
c.1933A>C (p.Lys645Gln)
c.1945A>C (p.Lys649Gln)
c.1948A>C (p.Lys650Gln)
c.1957A>C (p.Lys653Gln)
c.1954A>C (p.Lys652Gln)
n.2352A>C
n.2371A>C
4g.1806159A>GCA355982588FGFR3c.1951A>G (p.Lys651Glu)
c.*1001A>G (n.*1001A>G)
c.1609A>G (p.Lys537Glu)
c.1933A>G (p.Lys645Glu)
c.1945A>G (p.Lys649Glu)
c.1948A>G (p.Lys650Glu)
c.1957A>G (p.Lys653Glu)
c.1954A>G (p.Lys652Glu)
n.2352A>G
n.2371A>G
gnomAD v4
4g.1806159A>TCA355982590FGFR3c.1951A>T (p.Lys651Ter)
c.*1001A>T (n.*1001A>T)
c.1609A>T (p.Lys537Ter)
c.1933A>T (p.Lys645Ter)
c.1945A>T (p.Lys649Ter)
c.1948A>T (p.Lys650Ter)
c.1957A>T (p.Lys653Ter)
c.1954A>T (p.Lys652Ter)
n.2352A>T
n.2371A>T
dbSNP
4g.1806163_1806165delCA2810630FGFR3c.1955_1957del (p.Lys652del)
c.*1005_*1007del (n.*1005_*1007del)
c.1613_1615del (p.Lys538del)
c.1937_1939del (p.Lys646del)
c.1949_1951del (p.Lys650del)
c.1952_1954del (p.Lys651del)
c.1961_1963del (p.Lys654del)
c.1958_1960del (p.Lys653del)
n.2356_2358del
n.2375_2377del
dbSNP ExAC gnomAD v2 gnomAD v4
4g.1806160A=CA1433507816FGFR3c.1952A= (p.Lys651=)
c.*1002A= (n.*1002A=)
c.1610A= (p.Lys537=)
c.1934A= (p.Lys645=)
c.1946A= (p.Lys649=)
c.1949A= (p.Lys650=)
c.1958A= (p.Lys653=)
c.1955A= (p.Lys652=)
n.2353A=
n.2372A=
4g.1806160A>CCA355982592FGFR3c.1952A>C (p.Lys651Thr)
c.*1002A>C (n.*1002A>C)
c.1610A>C (p.Lys537Thr)
c.1934A>C (p.Lys645Thr)
c.1946A>C (p.Lys649Thr)
c.1949A>C (p.Lys650Thr)
c.1958A>C (p.Lys653Thr)
c.1955A>C (p.Lys652Thr)
n.2353A>C
n.2372A>C
4g.1806160A>GCA355982594FGFR3c.1952A>G (p.Lys651Arg)
c.*1002A>G (n.*1002A>G)
c.1610A>G (p.Lys537Arg)
c.1934A>G (p.Lys645Arg)
c.1946A>G (p.Lys649Arg)
c.1949A>G (p.Lys650Arg)
c.1958A>G (p.Lys653Arg)
c.1955A>G (p.Lys652Arg)
n.2353A>G
n.2372A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1806160A>TCA355982596FGFR3c.1952A>T (p.Lys651Met)
c.*1002A>T (n.*1002A>T)
c.1610A>T (p.Lys537Met)
c.1934A>T (p.Lys645Met)
c.1946A>T (p.Lys649Met)
c.1949A>T (p.Lys650Met)
c.1958A>T (p.Lys653Met)
c.1955A>T (p.Lys652Met)
n.2353A>T
n.2372A>T
dbSNP
4g.1806161G>ACA2810631FGFR3c.1953G>A (p.Lys651=)
c.*1003G>A (n.*1003G>A)
c.1611G>A (p.Lys537=)
c.1935G>A (p.Lys645=)
c.1947G>A (p.Lys649=)
c.1950G>A (p.Lys650=)
c.1959G>A (p.Lys653=)
c.1956G>A (p.Lys652=)
n.2354G>A
n.2373G>A
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.1806161G>CCA355982599FGFR3c.1953G>C (p.Lys651Asn)
c.*1003G>C (n.*1003G>C)
c.1611G>C (p.Lys537Asn)
c.1935G>C (p.Lys645Asn)
c.1947G>C (p.Lys649Asn)
c.1950G>C (p.Lys650Asn)
c.1959G>C (p.Lys653Asn)
c.1956G>C (p.Lys652Asn)
n.2354G>C
n.2373G>C
dbSNP
4g.1806161G=CA1433507817FGFR3c.1953G= (p.Lys651=)
c.*1003G= (n.*1003G=)
c.1611G= (p.Lys537=)
c.1935G= (p.Lys645=)
c.1947G= (p.Lys649=)
c.1950G= (p.Lys650=)
c.1959G= (p.Lys653=)
c.1956G= (p.Lys652=)
n.2354G=
n.2373G=
4g.1806161G>TCA355982601FGFR3c.1953G>T (p.Lys651Asn)
c.*1003G>T (n.*1003G>T)
c.1611G>T (p.Lys537Asn)
c.1935G>T (p.Lys645Asn)
c.1947G>T (p.Lys649Asn)
c.1950G>T (p.Lys650Asn)
c.1959G>T (p.Lys653Asn)
c.1956G>T (p.Lys652Asn)
n.2354G>T
n.2373G>T
4g.1806162A=CA1433507818FGFR3c.1954A= (p.Lys652=)
c.*1004A= (n.*1004A=)
c.1612A= (p.Lys538=)
c.1936A= (p.Lys646=)
c.1948A= (p.Lys650=)
c.1951A= (p.Lys651=)
c.1960A= (p.Lys654=)
c.1957A= (p.Lys653=)
n.2355A=
n.2374A=
4g.1806162A>CCA170755FGFR3c.1954A>C (p.Lys652Gln)
c.*1004A>C (n.*1004A>C)
c.1612A>C (p.Lys538Gln)
c.1936A>C (p.Lys646Gln)
c.1948A>C (p.Lys650Gln)
c.1951A>C (p.Lys651Gln)
c.1960A>C (p.Lys654Gln)
c.1957A>C (p.Lys653Gln)
n.2355A>C
n.2374A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.1806162A>GCA126376FGFR3c.1954A>G (p.Lys652Glu)
c.*1004A>G (n.*1004A>G)
c.1612A>G (p.Lys538Glu)
c.1936A>G (p.Lys646Glu)
c.1948A>G (p.Lys650Glu)
c.1951A>G (p.Lys651Glu)
c.1960A>G (p.Lys654Glu)
c.1957A>G (p.Lys653Glu)
n.2355A>G
n.2374A>G
ClinVar dbSNP COSMIC COSMIC
4g.1806162A>TCA355982604FGFR3c.1954A>T (p.Lys652Ter)
c.*1004A>T (n.*1004A>T)
c.1612A>T (p.Lys538Ter)
c.1936A>T (p.Lys646Ter)
c.1948A>T (p.Lys650Ter)
c.1951A>T (p.Lys651Ter)
c.1960A>T (p.Lys654Ter)
c.1957A>T (p.Lys653Ter)
n.2355A>T
n.2374A>T
4g.1806162_1806163delinsCTCA2573130207FGFR3c.1954_1955delinsCT (p.Lys652Leu)
c.*1004_*1005delinsCT (n.*1004_*1005delinsCT)
c.1612_1613delinsCT (p.Lys538Leu)
c.1936_1937delinsCT (p.Lys646Leu)
c.1948_1949delinsCT (p.Lys650Leu)
c.1951_1952delinsCT (p.Lys651Leu)
c.1960_1961delinsCT (p.Lys654Leu)
c.1957_1958delinsCT (p.Lys653Leu)
n.2355_2356delinsCT
n.2374_2375delinsCT
4g.1806162_1806164delinsGACCA2573130206FGFR3c.1954_1956delinsGAC (p.Lys652Asp)
c.*1004_*1006delinsGAC (n.*1004_*1006delinsGAC)
c.1612_1614delinsGAC (p.Lys538Asp)
c.1936_1938delinsGAC (p.Lys646Asp)
c.1948_1950delinsGAC (p.Lys650Asp)
c.1951_1953delinsGAC (p.Lys651Asp)
c.1960_1962delinsGAC (p.Lys654Asp)
c.1957_1959delinsGAC (p.Lys653Asp)
n.2355_2357delinsGAC
n.2374_2376delinsGAC
4g.1806163A=CA1433507819FGFR3c.1955A= (p.Lys652=)
c.*1005A= (n.*1005A=)
c.1613A= (p.Lys538=)
c.1937A= (p.Lys646=)
c.1949A= (p.Lys650=)
c.1952A= (p.Lys651=)
c.1961A= (p.Lys654=)
c.1958A= (p.Lys653=)
n.2356A=
n.2375A=
4g.1806163A>CCA345185FGFR3c.1955A>C (p.Lys652Thr)
c.*1005A>C (n.*1005A>C)
c.1613A>C (p.Lys538Thr)
c.1937A>C (p.Lys646Thr)
c.1949A>C (p.Lys650Thr)
c.1952A>C (p.Lys651Thr)
c.1961A>C (p.Lys654Thr)
c.1958A>C (p.Lys653Thr)
n.2356A>C
n.2375A>C
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
4g.1806163A>GCA355982606FGFR3c.1955A>G (p.Lys652Arg)
c.*1005A>G (n.*1005A>G)
c.1613A>G (p.Lys538Arg)
c.1937A>G (p.Lys646Arg)
c.1949A>G (p.Lys650Arg)
c.1952A>G (p.Lys651Arg)
c.1961A>G (p.Lys654Arg)
c.1958A>G (p.Lys653Arg)
n.2356A>G
n.2375A>G
dbSNP
4g.1806163A>TCA126382FGFR3c.1955A>T (p.Lys652Met)
c.*1005A>T (n.*1005A>T)
c.1613A>T (p.Lys538Met)
c.1937A>T (p.Lys646Met)
c.1949A>T (p.Lys650Met)
c.1952A>T (p.Lys651Met)
c.1961A>T (p.Lys654Met)
c.1958A>T (p.Lys653Met)
n.2356A>T
n.2375A>T
ClinVar dbSNP COSMIC
4g.1806163_1806165delinsTGCCA2586965955FGFR3c.1955_1957delinsTGC (p.Lys652_Thr653delinsMetPro)
c.*1005_*1007delinsTGC (n.*1005_*1007delinsTGC)
c.1613_1615delinsTGC (p.Lys538_Thr539delinsMetPro)
c.1937_1939delinsTGC (p.Lys646_Thr647delinsMetPro)
c.1949_1951delinsTGC (p.Lys650_Thr651delinsMetPro)
c.1952_1954delinsTGC (p.Lys651_Thr652delinsMetPro)
c.1961_1963delinsTGC (p.Lys654_Thr655delinsMetPro)
c.1958_1960delinsTGC (p.Lys653_Thr654delinsMetPro)
n.2356_2358delinsTGC
n.2375_2377delinsTGC
4g.1806164G>ACA438063262FGFR3c.1956G>A (p.Lys652=)
c.*1006G>A (n.*1006G>A)
c.1614G>A (p.Lys538=)
c.1938G>A (p.Lys646=)
c.1950G>A (p.Lys650=)
c.1953G>A (p.Lys651=)
c.1962G>A (p.Lys654=)
c.1959G>A (p.Lys653=)
n.2357G>A
n.2376G>A
dbSNP gnomAD v4
4g.1806164G>CCA280221FGFR3c.1956G>C (p.Lys652Asn)
c.*1006G>C (n.*1006G>C)
c.1614G>C (p.Lys538Asn)
c.1938G>C (p.Lys646Asn)
c.1950G>C (p.Lys650Asn)
c.1953G>C (p.Lys651Asn)
c.1962G>C (p.Lys654Asn)
c.1959G>C (p.Lys653Asn)
n.2357G>C
n.2376G>C
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.1806164G=CA1433507820FGFR3c.1956G= (p.Lys652=)
c.*1006G= (n.*1006G=)
c.1614G= (p.Lys538=)
c.1938G= (p.Lys646=)
c.1950G= (p.Lys650=)
c.1953G= (p.Lys651=)
c.1962G= (p.Lys654=)
c.1959G= (p.Lys653=)
n.2357G=
n.2376G=
4g.1806164G>TCA341419FGFR3c.1956G>T (p.Lys652Asn)
c.*1006G>T (n.*1006G>T)
c.1614G>T (p.Lys538Asn)
c.1938G>T (p.Lys646Asn)
c.1950G>T (p.Lys650Asn)
c.1953G>T (p.Lys651Asn)
c.1962G>T (p.Lys654Asn)
c.1959G>T (p.Lys653Asn)
n.2357G>T
n.2376G>T
ClinVar dbSNP COSMIC
4g.1806165A>CCA355982611FGFR3c.1957A>C (p.Thr653Pro)
c.*1007A>C (n.*1007A>C)
c.1615A>C (p.Thr539Pro)
c.1939A>C (p.Thr647Pro)
c.1951A>C (p.Thr651Pro)
c.1954A>C (p.Thr652Pro)
c.1963A>C (p.Thr655Pro)
c.1960A>C (p.Thr654Pro)
n.2358A>C
n.2377A>C
4g.1806165A>GCA355982614FGFR3c.1957A>G (p.Thr653Ala)
c.*1007A>G (n.*1007A>G)
c.1615A>G (p.Thr539Ala)
c.1939A>G (p.Thr647Ala)
c.1951A>G (p.Thr651Ala)
c.1954A>G (p.Thr652Ala)
c.1963A>G (p.Thr655Ala)
c.1960A>G (p.Thr654Ala)
n.2358A>G
n.2377A>G
4g.1806165A>TCA355982615FGFR3c.1957A>T (p.Thr653Ser)
c.*1007A>T (n.*1007A>T)
c.1615A>T (p.Thr539Ser)
c.1939A>T (p.Thr647Ser)
c.1951A>T (p.Thr651Ser)
c.1954A>T (p.Thr652Ser)
c.1963A>T (p.Thr655Ser)
c.1960A>T (p.Thr654Ser)
n.2358A>T
n.2377A>T
4g.1806166C>ACA355982618FGFR3c.1958C>A (p.Thr653Lys)
c.*1008C>A (n.*1008C>A)
c.1616C>A (p.Thr539Lys)
c.1940C>A (p.Thr647Lys)
c.1952C>A (p.Thr651Lys)
c.1955C>A (p.Thr652Lys)
c.1964C>A (p.Thr655Lys)
c.1961C>A (p.Thr654Lys)
n.2359C>A
n.2378C>A
4g.1806166C>GCA355982619FGFR3c.1958C>G (p.Thr653Arg)
c.*1008C>G (n.*1008C>G)
c.1616C>G (p.Thr539Arg)
c.1940C>G (p.Thr647Arg)
c.1952C>G (p.Thr651Arg)
c.1955C>G (p.Thr652Arg)
c.1964C>G (p.Thr655Arg)
c.1961C>G (p.Thr654Arg)
n.2359C>G
n.2378C>G
4g.1806166C>TCA355982622FGFR3c.1958C>T (p.Thr653Met)
c.*1008C>T (n.*1008C>T)
c.1616C>T (p.Thr539Met)
c.1940C>T (p.Thr647Met)
c.1952C>T (p.Thr651Met)
c.1955C>T (p.Thr652Met)
c.1952C>T (p.Thr651Ile)
c.1958C>T (p.Thr653Ile)
c.1616C>T (p.Thr539Ile)
c.1964C>T (p.Thr655Met)
c.1961C>T (p.Thr654Met)
c.1955C>T (p.Thr652Ile)
n.2359C>T
n.2378C>T
COSMIC
4g.1806167G>ACA2810632FGFR3c.1959G>A (p.Thr653=)
c.*1009G>A (n.*1009G>A)
c.1617G>A (p.Thr539=)
c.1941G>A (p.Thr647=)
c.1953G>A (p.Thr651=)
c.1956G>A (p.Thr652=)
c.1965G>A (p.Thr655=)
c.1962G>A (p.Thr654=)
n.2379G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1806167G>CCA438063264FGFR3c.1959G>C (p.Thr653=)
c.*1009G>C (n.*1009G>C)
c.1617G>C (p.Thr539=)
c.1941G>C (p.Thr647=)
c.1953G>C (p.Thr651=)
c.1956G>C (p.Thr652=)
c.1965G>C (p.Thr655=)
c.1962G>C (p.Thr654=)
n.2379G>C
gnomAD v4
4g.1806167G=CA16605084FGFR3c.1959G= (p.Thr653=)
c.*1009G= (n.*1009G=)
c.1617G= (p.Thr539=)
c.1941G= (p.Thr647=)
c.1953G= (p.Thr651=)
c.1956G= (p.Thr652=)
c.1965G= (p.Thr655=)
c.1962G= (p.Thr654=)
n.2379G=
4g.1806167G>TCA438063265FGFR3c.1959G>T (p.Thr653=)
c.*1009G>T (n.*1009G>T)
c.1617G>T (p.Thr539=)
c.1941G>T (p.Thr647=)
c.1953G>T (p.Thr651=)
c.1956G>T (p.Thr652=)
c.1965G>T (p.Thr655=)
c.1962G>T (p.Thr654=)
n.2379G>T
4g.1806168A=CA1433507821FGFR3c.1960A= (p.Thr654=)
c.*1010A= (n.*1010A=)
c.1618A= (p.Thr540=)
c.1942A= (p.Thr648=)
c.1954A= (p.Thr652=)
c.1957A= (p.Thr653=)
c.1966A= (p.Thr656=)
c.1963A= (p.Thr655=)
n.2361A=
n.2380A=
4g.1806168A>CCA355982625FGFR3c.1960A>C (p.Thr654Pro)
c.*1010A>C (n.*1010A>C)
c.1618A>C (p.Thr540Pro)
c.1942A>C (p.Thr648Pro)
c.1954A>C (p.Thr652Pro)
c.1957A>C (p.Thr653Pro)
c.1966A>C (p.Thr656Pro)
c.1963A>C (p.Thr655Pro)
n.2361A>C
n.2380A>C
4g.1806168A>GCA355982627FGFR3c.1960A>G (p.Thr654Ala)
c.*1010A>G (n.*1010A>G)
c.1618A>G (p.Thr540Ala)
c.1942A>G (p.Thr648Ala)
c.1954A>G (p.Thr652Ala)
c.1957A>G (p.Thr653Ala)
c.1966A>G (p.Thr656Ala)
c.1963A>G (p.Thr655Ala)
n.2361A>G
n.2380A>G
ClinVar dbSNP
4g.1806168A>TCA355982628FGFR3c.1960A>T (p.Thr654Ser)
c.*1010A>T (n.*1010A>T)
c.1618A>T (p.Thr540Ser)
c.1942A>T (p.Thr648Ser)
c.1954A>T (p.Thr652Ser)
c.1957A>T (p.Thr653Ser)
c.1966A>T (p.Thr656Ser)
c.1963A>T (p.Thr655Ser)
n.2361A>T
n.2380A>T
dbSNP gnomAD v2 gnomAD v4
4g.1806169C>ACA355982632FGFR3c.1961C>A (p.Thr654Asn)
c.*1011C>A (n.*1011C>A)
c.1619C>A (p.Thr540Asn)
c.1943C>A (p.Thr648Asn)
c.1955C>A (p.Thr652Asn)
c.1958C>A (p.Thr653Asn)
c.1967C>A (p.Thr656Asn)
c.1964C>A (p.Thr655Asn)
n.2362C>A
n.2381C>A
4g.1806169C=CA1433507822FGFR3c.1961C= (p.Thr654=)
c.*1011C= (n.*1011C=)
c.1619C= (p.Thr540=)
c.1943C= (p.Thr648=)
c.1955C= (p.Thr652=)
c.1958C= (p.Thr653=)
c.1967C= (p.Thr656=)
c.1964C= (p.Thr655=)
n.2362C=
n.2381C=
4g.1806169C>GCA2810633FGFR3c.1961C>G (p.Thr654Ser)
c.*1011C>G (n.*1011C>G)
c.1619C>G (p.Thr540Ser)
c.1943C>G (p.Thr648Ser)
c.1955C>G (p.Thr652Ser)
c.1958C>G (p.Thr653Ser)
c.1967C>G (p.Thr656Ser)
c.1964C>G (p.Thr655Ser)
n.2362C>G
n.2381C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1806169C>TCA355982631FGFR3c.1961C>T (p.Thr654Ile)
c.*1011C>T (n.*1011C>T)
c.1619C>T (p.Thr540Ile)
c.1943C>T (p.Thr648Ile)
c.1955C>T (p.Thr652Ile)
c.1958C>T (p.Thr653Ile)
c.1967C>T (p.Thr656Ile)
c.1964C>T (p.Thr655Ile)
n.2362C>T
n.2381C>T
COSMIC
4g.1806170C>ACA438063270FGFR3c.1962C>A (p.Thr654=)
c.*1012C>A (n.*1012C>A)
c.1620C>A (p.Thr540=)
c.1944C>A (p.Thr648=)
c.1956C>A (p.Thr652=)
c.1959C>A (p.Thr653=)
c.1968C>A (p.Thr656=)
c.1965C>A (p.Thr655=)
n.2363C>A
n.2382C>A
dbSNP
4g.1806170C=CA1433507823FGFR3c.1962C= (p.Thr654=)
c.*1012C= (n.*1012C=)
c.1620C= (p.Thr540=)
c.1944C= (p.Thr648=)
c.1956C= (p.Thr652=)
c.1959C= (p.Thr653=)
c.1968C= (p.Thr656=)
c.1965C= (p.Thr655=)
n.2363C=
n.2382C=
4g.1806170C>GCA438063272FGFR3c.1962C>G (p.Thr654=)
c.*1012C>G (n.*1012C>G)
c.1620C>G (p.Thr540=)
c.1944C>G (p.Thr648=)
c.1956C>G (p.Thr652=)
c.1959C>G (p.Thr653=)
c.1968C>G (p.Thr656=)
c.1965C>G (p.Thr655=)
n.2363C>G
n.2382C>G
dbSNP gnomAD v4
4g.1806170C>TCA438063271FGFR3c.1962C>T (p.Thr654=)
c.*1012C>T (n.*1012C>T)
c.1620C>T (p.Thr540=)
c.1944C>T (p.Thr648=)
c.1956C>T (p.Thr652=)
c.1959C>T (p.Thr653=)
c.1968C>T (p.Thr656=)
c.1965C>T (p.Thr655=)
n.2363C>T
n.2382C>T
dbSNP gnomAD v4

Number of alleles fetched