Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.1806070C>A | CA355982287 | FGFR3 | c.1862C>A (p.Ala621Asp) c.*912C>A (n.*912C>A) c.1520C>A (p.Ala507Asp) c.1844C>A (p.Ala615Asp) c.1856C>A (p.Ala619Asp) c.1859C>A (p.Ala620Asp) c.1868C>A (p.Ala623Asp) c.1865C>A (p.Ala622Asp) n.2263C>A n.2282C>A | |
4 | g.1806070C= | CA1433507783 | FGFR3 | c.1862C= (p.Ala621=) c.*912C= (n.*912C=) c.1520C= (p.Ala507=) c.1844C= (p.Ala615=) c.1856C= (p.Ala619=) c.1859C= (p.Ala620=) c.1868C= (p.Ala623=) c.1865C= (p.Ala622=) n.2263C= n.2282C= | |
4 | g.1806070C>G | CA2810618 | FGFR3 | c.1862C>G (p.Ala621Gly) c.*912C>G (n.*912C>G) c.1520C>G (p.Ala507Gly) c.1844C>G (p.Ala615Gly) c.1856C>G (p.Ala619Gly) c.1859C>G (p.Ala620Gly) c.1868C>G (p.Ala623Gly) c.1865C>G (p.Ala622Gly) n.2263C>G n.2282C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.1806070C>T | CA355982289 | FGFR3 | c.1862C>T (p.Ala621Val) c.*912C>T (n.*912C>T) c.1520C>T (p.Ala507Val) c.1844C>T (p.Ala615Val) c.1856C>T (p.Ala619Val) c.1859C>T (p.Ala620Val) c.1868C>T (p.Ala623Val) c.1865C>T (p.Ala622Val) n.2263C>T n.2282C>T | dbSNP |
4 | g.1806071T>A | CA438063113 | FGFR3 | c.1863T>A (p.Ala621=) c.*913T>A (n.*913T>A) c.1521T>A (p.Ala507=) c.1845T>A (p.Ala615=) c.1857T>A (p.Ala619=) c.1860T>A (p.Ala620=) c.1869T>A (p.Ala623=) c.1866T>A (p.Ala622=) n.2264T>A n.2283T>A | dbSNP |
4 | g.1806071T>C | CA438063116 | FGFR3 | c.1863T>C (p.Ala621=) c.*913T>C (n.*913T>C) c.1521T>C (p.Ala507=) c.1845T>C (p.Ala615=) c.1857T>C (p.Ala619=) c.1860T>C (p.Ala620=) c.1869T>C (p.Ala623=) c.1866T>C (p.Ala622=) n.2264T>C n.2283T>C | dbSNP |
4 | g.1806071T>G | CA438063117 | FGFR3 | c.1863T>G (p.Ala621=) c.*913T>G (n.*913T>G) c.1521T>G (p.Ala507=) c.1845T>G (p.Ala615=) c.1857T>G (p.Ala619=) c.1860T>G (p.Ala620=) c.1869T>G (p.Ala623=) c.1866T>G (p.Ala622=) n.2264T>G n.2283T>G | |
4 | g.1806074_1806084del | CA2669554045 | FGFR3 | c.1866_1876del (p.Arg623GlyfsTer?) c.*916_*926del (n.*916_*926del) c.1524_1534del (p.Arg509GlyfsTer?) c.1848_1858del (p.Arg617GlyfsTer?) c.1860_1870del (p.Arg621GlyfsTer?) c.1863_1873del (p.Arg622GlyfsTer?) c.1872_1882del (p.Arg625GlyfsTer?) c.1869_1879del (p.Arg624GlyfsTer?) n.2267_2277del n.2286_2296del | gnomAD v4 |
4 | g.1806072G>A | CA355982291 | FGFR3 | c.1864G>A (p.Ala622Thr) c.*914G>A (n.*914G>A) c.1522G>A (p.Ala508Thr) c.1846G>A (p.Ala616Thr) c.1858G>A (p.Ala620Thr) c.1861G>A (p.Ala621Thr) c.1870G>A (p.Ala624Thr) c.1867G>A (p.Ala623Thr) n.2265G>A n.2284G>A | |
4 | g.1806072G>C | CA355982293 | FGFR3 | c.1864G>C (p.Ala622Pro) c.*914G>C (n.*914G>C) c.1522G>C (p.Ala508Pro) c.1846G>C (p.Ala616Pro) c.1858G>C (p.Ala620Pro) c.1861G>C (p.Ala621Pro) c.1870G>C (p.Ala624Pro) c.1867G>C (p.Ala623Pro) n.2265G>C n.2284G>C | |
4 | g.1806072G>T | CA355982294 | FGFR3 | c.1864G>T (p.Ala622Ser) c.*914G>T (n.*914G>T) c.1522G>T (p.Ala508Ser) c.1846G>T (p.Ala616Ser) c.1858G>T (p.Ala620Ser) c.1861G>T (p.Ala621Ser) c.1870G>T (p.Ala624Ser) c.1867G>T (p.Ala623Ser) n.2265G>T n.2284G>T | |
4 | g.1806073C>A | CA355982296 | FGFR3 | c.1865C>A (p.Ala622Asp) c.*915C>A (n.*915C>A) c.1523C>A (p.Ala508Asp) c.1847C>A (p.Ala616Asp) c.1859C>A (p.Ala620Asp) c.1862C>A (p.Ala621Asp) c.1871C>A (p.Ala624Asp) c.1868C>A (p.Ala623Asp) n.2266C>A n.2285C>A | dbSNP |
4 | g.1806073C>G | CA355982298 | FGFR3 | c.1865C>G (p.Ala622Gly) c.*915C>G (n.*915C>G) c.1523C>G (p.Ala508Gly) c.1847C>G (p.Ala616Gly) c.1859C>G (p.Ala620Gly) c.1862C>G (p.Ala621Gly) c.1871C>G (p.Ala624Gly) c.1868C>G (p.Ala623Gly) n.2266C>G n.2285C>G | dbSNP |
4 | g.1806073C>T | CA355982299 | FGFR3 | c.1865C>T (p.Ala622Val) c.*915C>T (n.*915C>T) c.1523C>T (p.Ala508Val) c.1847C>T (p.Ala616Val) c.1859C>T (p.Ala620Val) c.1862C>T (p.Ala621Val) c.1871C>T (p.Ala624Val) c.1868C>T (p.Ala623Val) n.2266C>T n.2285C>T | dbSNP |
4 | g.1806074C>A | CA438063121 | FGFR3 | c.1866C>A (p.Ala622=) c.*916C>A (n.*916C>A) c.1524C>A (p.Ala508=) c.1848C>A (p.Ala616=) c.1860C>A (p.Ala620=) c.1863C>A (p.Ala621=) c.1872C>A (p.Ala624=) c.1869C>A (p.Ala623=) n.2267C>A n.2286C>A | dbSNP |
4 | g.1806074C= | CA1433507784 | FGFR3 | c.1866C= (p.Ala622=) c.*916C= (n.*916C=) c.1524C= (p.Ala508=) c.1848C= (p.Ala616=) c.1860C= (p.Ala620=) c.1863C= (p.Ala621=) c.1872C= (p.Ala624=) c.1869C= (p.Ala623=) n.2267C= n.2286C= | |
4 | g.1806074C>G | CA438063122 | FGFR3 | c.1866C>G (p.Ala622=) c.*916C>G (n.*916C>G) c.1524C>G (p.Ala508=) c.1848C>G (p.Ala616=) c.1860C>G (p.Ala620=) c.1863C>G (p.Ala621=) c.1872C>G (p.Ala624=) c.1869C>G (p.Ala623=) n.2267C>G n.2286C>G | dbSNP |
4 | g.1806074C>T | CA2810619 | FGFR3 | c.1866C>T (p.Ala622=) c.*916C>T (n.*916C>T) c.1524C>T (p.Ala508=) c.1848C>T (p.Ala616=) c.1860C>T (p.Ala620=) c.1863C>T (p.Ala621=) c.1872C>T (p.Ala624=) c.1869C>T (p.Ala623=) n.2267C>T n.2286C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1806075C>A | CA355982302 | FGFR3 | c.1867C>A (p.Arg623Ser) c.*917C>A (n.*917C>A) c.1525C>A (p.Arg509Ser) c.1849C>A (p.Arg617Ser) c.1861C>A (p.Arg621Ser) c.1864C>A (p.Arg622Ser) c.1873C>A (p.Arg625Ser) c.1870C>A (p.Arg624Ser) n.2268C>A n.2287C>A | |
4 | g.1806075C>G | CA355982304 | FGFR3 | c.1867C>G (p.Arg623Gly) c.*917C>G (n.*917C>G) c.1525C>G (p.Arg509Gly) c.1849C>G (p.Arg617Gly) c.1861C>G (p.Arg621Gly) c.1864C>G (p.Arg622Gly) c.1873C>G (p.Arg625Gly) c.1870C>G (p.Arg624Gly) n.2268C>G n.2287C>G | |
4 | g.1806075C>T | CA355982305 | FGFR3 | c.1867C>T (p.Arg623Cys) c.*917C>T (n.*917C>T) c.1525C>T (p.Arg509Cys) c.1849C>T (p.Arg617Cys) c.1861C>T (p.Arg621Cys) c.1864C>T (p.Arg622Cys) c.1873C>T (p.Arg625Cys) c.1870C>T (p.Arg624Cys) n.2268C>T n.2287C>T | ClinVar dbSNP |
4 | g.1806076G>A | CA126386 | FGFR3 | c.1868G>A (p.Arg623His) c.*918G>A (n.*918G>A) c.1526G>A (p.Arg509His) c.1850G>A (p.Arg617His) c.1862G>A (p.Arg621His) c.1865G>A (p.Arg622His) c.1874G>A (p.Arg625His) c.1871G>A (p.Arg624His) n.2269G>A n.2288G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.1806076G>C | CA355982309 | FGFR3 | c.1868G>C (p.Arg623Pro) c.*918G>C (n.*918G>C) c.1526G>C (p.Arg509Pro) c.1850G>C (p.Arg617Pro) c.1862G>C (p.Arg621Pro) c.1865G>C (p.Arg622Pro) c.1874G>C (p.Arg625Pro) c.1871G>C (p.Arg624Pro) n.2269G>C n.2288G>C | dbSNP |
4 | g.1806076G= | CA1433507785 | FGFR3 | c.1868G= (p.Arg623=) c.*918G= (n.*918G=) c.1526G= (p.Arg509=) c.1850G= (p.Arg617=) c.1862G= (p.Arg621=) c.1865G= (p.Arg622=) c.1874G= (p.Arg625=) c.1871G= (p.Arg624=) n.2269G= n.2288G= | |
4 | g.1806076G>T | CA355982310 | FGFR3 | c.1868G>T (p.Arg623Leu) c.*918G>T (n.*918G>T) c.1526G>T (p.Arg509Leu) c.1850G>T (p.Arg617Leu) c.1862G>T (p.Arg621Leu) c.1865G>T (p.Arg622Leu) c.1874G>T (p.Arg625Leu) c.1871G>T (p.Arg624Leu) n.2269G>T n.2288G>T | ClinVar dbSNP |
4 | g.1806077C>A | CA438063125 | FGFR3 | c.1869C>A (p.Arg623=) c.*919C>A (n.*919C>A) c.1527C>A (p.Arg509=) c.1851C>A (p.Arg617=) c.1863C>A (p.Arg621=) c.1866C>A (p.Arg622=) c.1875C>A (p.Arg625=) c.1872C>A (p.Arg624=) n.2270C>A n.2289C>A | gnomAD v4 |
4 | g.1806077C= | CA1433507786 | FGFR3 | c.1869C= (p.Arg623=) c.*919C= (n.*919C=) c.1527C= (p.Arg509=) c.1851C= (p.Arg617=) c.1863C= (p.Arg621=) c.1866C= (p.Arg622=) c.1875C= (p.Arg625=) c.1872C= (p.Arg624=) n.2270C= n.2289C= | |
4 | g.1806077C>G | CA438063126 | FGFR3 | c.1869C>G (p.Arg623=) c.*919C>G (n.*919C>G) c.1527C>G (p.Arg509=) c.1851C>G (p.Arg617=) c.1863C>G (p.Arg621=) c.1866C>G (p.Arg622=) c.1875C>G (p.Arg625=) c.1872C>G (p.Arg624=) n.2270C>G n.2289C>G | |
4 | g.1806077C>T | CA438063127 | FGFR3 | c.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 |
4 | g.1806078A>C | CA355982312 | FGFR3 | c.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 | |
4 | g.1806078A>G | CA355982314 | FGFR3 | c.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 | |
4 | g.1806078A>T | CA355982316 | FGFR3 | c.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 | |
4 | g.1806079A>C | CA355982318 | FGFR3 | c.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 | |
4 | g.1806079A>G | CA355982320 | FGFR3 | c.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 |
4 | g.1806079A>T | CA355982322 | FGFR3 | c.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 |
4 | g.1806079_1806083del | CA2704953300 | FGFR3 | c.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 |
4 | g.1806080T>A | CA355982324 | FGFR3 | c.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 |
4 | g.1806080T>C | CA438063132 | FGFR3 | c.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 |
4 | g.1806080T>G | CA355982326 | FGFR3 | c.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 |
4 | g.1806081G>A | CA355982328 | FGFR3 | c.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 |
4 | g.1806081G>C | CA355982331 | FGFR3 | c.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 |
4 | g.1806081G= | CA1433507787 | FGFR3 | c.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= | |
4 | g.1806081G>T | CA355982330 | FGFR3 | c.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 | |
4 | g.1806082T>A | CA355982334 | FGFR3 | c.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 | |
4 | g.1806082T>C | CA355982336 | FGFR3 | c.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 | |
4 | g.1806082T>G | CA355982337 | FGFR3 | c.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 | |
4 | g.1806083G>A | CA438063136 | FGFR3 | c.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 |
4 | g.1806083G>C | CA438063134 | FGFR3 | c.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 |
4 | g.1806083G>T | CA438063135 | FGFR3 | c.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 |
4 | g.1806084C>A | CA355982340 | FGFR3 | c.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 |
4 | g.1806084C>G | CA355982342 | FGFR3 | c.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 |
4 | g.1806084C>T | CA438063139 | FGFR3 | c.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 |
4 | g.1806085T>A | CA355982344 | FGFR3 | c.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 |
4 | g.1806085T>C | CA355982346 | FGFR3 | c.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 | |
4 | g.1806085T>G | CA355982347 | FGFR3 | c.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 | |
4 | g.1806086G>A | CA438063143 | FGFR3 | c.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 |
4 | g.1806086G>C | CA438063144 | FGFR3 | c.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 |
4 | g.1806086G>T | CA438063145 | FGFR3 | c.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 | |
4 | g.1806087del | CA2704953414 | FGFR3 | c.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 |
4 | g.1806087G>A | CA355982349 | FGFR3 | c.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 |
4 | g.1806087G>C | CA355982351 | FGFR3 | c.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 |
4 | g.1806087G>T | CA355982353 | FGFR3 | c.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 | |
4 | g.1806088T>A | CA355982359 | FGFR3 | c.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 |
4 | g.1806088T>C | CA355982357 | FGFR3 | c.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 |
4 | g.1806088T>G | CA355982355 | FGFR3 | c.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 |
4 | g.1806089G>A | CA438063147 | FGFR3 | c.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 |
4 | g.1806089G>C | CA438063148 | FGFR3 | c.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 |
4 | g.1806089G>T | CA438063149 | FGFR3 | c.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 |
4 | g.1806090A= | CA1433507788 | FGFR3 | c.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= | |
4 | g.1806090A>C | CA355982361 | FGFR3 | c.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 |
4 | g.1806090A>G | CA355982363 | FGFR3 | c.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 |
4 | g.1806090A>T | CA2810620 | FGFR3 | c.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 |
4 | g.1806091C>A | CA355982366 | FGFR3 | c.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 | |
4 | g.1806091C>G | CA355982368 | FGFR3 | c.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 |
4 | g.1806091C>T | CA355982370 | FGFR3 | c.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 |
4 | g.1806092C>A | CA438063150 | FGFR3 | c.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 |
4 | g.1806092C= | CA1433507789 | FGFR3 | c.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= | |
4 | g.1806092C>G | CA438063151 | FGFR3 | c.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 |
4 | g.1806092C>T | CA2810621 | FGFR3 | c.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 |
4 | g.1806093G>A | CA072649 | FGFR3 | c.1885G>A (p.Glu629Lys) c.*935G>A (n.*935G>A) c.1543G>A (p.Glu515Lys) c.1867G>A (p.Glu623Lys) c.1879G>A (p.Glu627Lys) c.1882G>A (p.Glu628Lys) c.1891G>A (p.Glu631Lys) c.1888G>A (p.Glu630Lys) n.2286G>A n.2305G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1806093G>C | CA355982374 | FGFR3 | c.1885G>C (p.Glu629Gln) c.*935G>C (n.*935G>C) c.1543G>C (p.Glu515Gln) c.1867G>C (p.Glu623Gln) c.1879G>C (p.Glu627Gln) c.1882G>C (p.Glu628Gln) c.1891G>C (p.Glu631Gln) c.1888G>C (p.Glu630Gln) n.2286G>C n.2305G>C | dbSNP |
4 | g.1806093G= | CA1433507790 | FGFR3 | c.1885G= (p.Glu629=) c.*935G= (n.*935G=) c.1543G= (p.Glu515=) c.1867G= (p.Glu623=) c.1879G= (p.Glu627=) c.1882G= (p.Glu628=) c.1891G= (p.Glu631=) c.1888G= (p.Glu630=) n.2286G= n.2305G= | |
4 | g.1806093G>T | CA355982375 | FGFR3 | c.1885G>T (p.Glu629Ter) c.*935G>T (n.*935G>T) c.1543G>T (p.Glu515Ter) c.1867G>T (p.Glu623Ter) c.1879G>T (p.Glu627Ter) c.1882G>T (p.Glu628Ter) c.1891G>T (p.Glu631Ter) c.1888G>T (p.Glu630Ter) n.2286G>T n.2305G>T | |
4 | g.1806094A>C | CA355982377 | FGFR3 | c.1886A>C (p.Glu629Ala) c.*936A>C (n.*936A>C) c.1544A>C (p.Glu515Ala) c.1868A>C (p.Glu623Ala) c.1880A>C (p.Glu627Ala) c.1883A>C (p.Glu628Ala) c.1892A>C (p.Glu631Ala) c.1889A>C (p.Glu630Ala) n.2287A>C n.2306A>C | |
4 | g.1806094A>G | CA355982379 | FGFR3 | c.1886A>G (p.Glu629Gly) c.*936A>G (n.*936A>G) c.1544A>G (p.Glu515Gly) c.1868A>G (p.Glu623Gly) c.1880A>G (p.Glu627Gly) c.1883A>G (p.Glu628Gly) c.1892A>G (p.Glu631Gly) c.1889A>G (p.Glu630Gly) n.2287A>G n.2306A>G | dbSNP |
4 | g.1806094A>T | CA355982380 | FGFR3 | c.1886A>T (p.Glu629Val) c.*936A>T (n.*936A>T) c.1544A>T (p.Glu515Val) c.1868A>T (p.Glu623Val) c.1880A>T (p.Glu627Val) c.1883A>T (p.Glu628Val) c.1892A>T (p.Glu631Val) c.1889A>T (p.Glu630Val) n.2287A>T n.2306A>T | dbSNP |
4 | g.1806095G>A | CA438063153 | FGFR3 | c.1887G>A (p.Glu629=) c.*937G>A (n.*937G>A) c.1545G>A (p.Glu515=) c.1869G>A (p.Glu623=) c.1881G>A (p.Glu627=) c.1884G>A (p.Glu628=) c.1893G>A (p.Glu631=) c.1890G>A (p.Glu630=) n.2288G>A n.2307G>A | dbSNP |
4 | g.1806095G>C | CA355982382 | FGFR3 | c.1887G>C (p.Glu629Asp) c.*937G>C (n.*937G>C) c.1545G>C (p.Glu515Asp) c.1869G>C (p.Glu623Asp) c.1881G>C (p.Glu627Asp) c.1884G>C (p.Glu628Asp) c.1893G>C (p.Glu631Asp) c.1890G>C (p.Glu630Asp) n.2288G>C n.2307G>C | |
4 | g.1806095G>T | CA355982384 | FGFR3 | c.1887G>T (p.Glu629Asp) c.*937G>T (n.*937G>T) c.1545G>T (p.Glu515Asp) c.1869G>T (p.Glu623Asp) c.1881G>T (p.Glu627Asp) c.1884G>T (p.Glu628Asp) c.1893G>T (p.Glu631Asp) c.1890G>T (p.Glu630Asp) n.2288G>T n.2307G>T | COSMIC |
4 | g.1806096G>A | CA355982386 | FGFR3 | c.1888G>A (p.Asp630Asn) c.*938G>A (n.*938G>A) c.1546G>A (p.Asp516Asn) c.1870G>A (p.Asp624Asn) c.1882G>A (p.Asp628Asn) c.1885G>A (p.Asp629Asn) c.1894G>A (p.Asp632Asn) c.1891G>A (p.Asp631Asn) n.2289G>A n.2308G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.1806096G>C | CA355982389 | FGFR3 | c.1888G>C (p.Asp630His) c.*938G>C (n.*938G>C) c.1546G>C (p.Asp516His) c.1870G>C (p.Asp624His) c.1882G>C (p.Asp628His) c.1885G>C (p.Asp629His) c.1894G>C (p.Asp632His) c.1891G>C (p.Asp631His) n.2289G>C n.2308G>C | dbSNP |
4 | g.1806096G= | CA1433507791 | FGFR3 | c.1888G= (p.Asp630=) c.*938G= (n.*938G=) c.1546G= (p.Asp516=) c.1870G= (p.Asp624=) c.1882G= (p.Asp628=) c.1885G= (p.Asp629=) c.1894G= (p.Asp632=) c.1891G= (p.Asp631=) n.2289G= n.2308G= | |
4 | g.1806096G>T | CA355982387 | FGFR3 | c.1888G>T (p.Asp630Tyr) c.*938G>T (n.*938G>T) c.1546G>T (p.Asp516Tyr) c.1870G>T (p.Asp624Tyr) c.1882G>T (p.Asp628Tyr) c.1885G>T (p.Asp629Tyr) c.1894G>T (p.Asp632Tyr) c.1891G>T (p.Asp631Tyr) n.2289G>T n.2308G>T | |
4 | g.1806097A>C | CA355982391 | FGFR3 | c.1889A>C (p.Asp630Ala) c.*939A>C (n.*939A>C) c.1547A>C (p.Asp516Ala) c.1871A>C (p.Asp624Ala) c.1883A>C (p.Asp628Ala) c.1886A>C (p.Asp629Ala) c.1895A>C (p.Asp632Ala) c.1892A>C (p.Asp631Ala) n.2290A>C n.2309A>C | dbSNP |
4 | g.1806097A>G | CA355982395 | FGFR3 | c.1889A>G (p.Asp630Gly) c.*939A>G (n.*939A>G) c.1547A>G (p.Asp516Gly) c.1871A>G (p.Asp624Gly) c.1883A>G (p.Asp628Gly) c.1886A>G (p.Asp629Gly) c.1895A>G (p.Asp632Gly) c.1892A>G (p.Asp631Gly) n.2290A>G n.2309A>G | dbSNP |
4 | g.1806097A>T | CA355982393 | FGFR3 | c.1889A>T (p.Asp630Val) c.*939A>T (n.*939A>T) c.1547A>T (p.Asp516Val) c.1871A>T (p.Asp624Val) c.1883A>T (p.Asp628Val) c.1886A>T (p.Asp629Val) c.1895A>T (p.Asp632Val) c.1892A>T (p.Asp631Val) n.2290A>T n.2309A>T | dbSNP |
4 | g.1806098C>A | CA355982397 | FGFR3 | c.1890C>A (p.Asp630Glu) c.*940C>A (n.*940C>A) c.1548C>A (p.Asp516Glu) c.1872C>A (p.Asp624Glu) c.1884C>A (p.Asp628Glu) c.1887C>A (p.Asp629Glu) c.1896C>A (p.Asp632Glu) c.1893C>A (p.Asp631Glu) n.2291C>A n.2310C>A | dbSNP |
4 | g.1806098C= | CA1433507792 | FGFR3 | c.1890C= (p.Asp630=) c.*940C= (n.*940C=) c.1548C= (p.Asp516=) c.1872C= (p.Asp624=) c.1884C= (p.Asp628=) c.1887C= (p.Asp629=) c.1896C= (p.Asp632=) c.1893C= (p.Asp631=) n.2291C= n.2310C= | |
4 | g.1806098C>G | CA355982399 | FGFR3 | c.1890C>G (p.Asp630Glu) c.*940C>G (n.*940C>G) c.1548C>G (p.Asp516Glu) c.1872C>G (p.Asp624Glu) c.1884C>G (p.Asp628Glu) c.1887C>G (p.Asp629Glu) c.1896C>G (p.Asp632Glu) c.1893C>G (p.Asp631Glu) n.2291C>G n.2310C>G | dbSNP |
4 | g.1806098C>T | CA438063154 | FGFR3 | c.1890C>T (p.Asp630=) c.*940C>T (n.*940C>T) c.1548C>T (p.Asp516=) c.1872C>T (p.Asp624=) c.1884C>T (p.Asp628=) c.1887C>T (p.Asp629=) c.1896C>T (p.Asp632=) c.1893C>T (p.Asp631=) n.2291C>T n.2310C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.1806099A>C | CA355982401 | FGFR3 | c.1891A>C (p.Asn631His) c.*941A>C (n.*941A>C) c.1549A>C (p.Asn517His) c.1873A>C (p.Asn625His) c.1885A>C (p.Asn629His) c.1888A>C (p.Asn630His) c.1897A>C (p.Asn633His) c.1894A>C (p.Asn632His) n.2292A>C n.2311A>C | |
4 | g.1806099A>G | CA355982403 | FGFR3 | c.1891A>G (p.Asn631Asp) c.*941A>G (n.*941A>G) c.1549A>G (p.Asn517Asp) c.1873A>G (p.Asn625Asp) c.1885A>G (p.Asn629Asp) c.1888A>G (p.Asn630Asp) c.1897A>G (p.Asn633Asp) c.1894A>G (p.Asn632Asp) n.2292A>G n.2311A>G | |
4 | g.1806099A>T | CA355982404 | FGFR3 | c.1891A>T (p.Asn631Tyr) c.*941A>T (n.*941A>T) c.1549A>T (p.Asn517Tyr) c.1873A>T (p.Asn625Tyr) c.1885A>T (p.Asn629Tyr) c.1888A>T (p.Asn630Tyr) c.1897A>T (p.Asn633Tyr) c.1894A>T (p.Asn632Tyr) n.2292A>T n.2311A>T | dbSNP |
4 | g.1806100A= | CA1433507793 | FGFR3 | c.1892A= (p.Asn631=) c.*942A= (n.*942A=) c.1550A= (p.Asn517=) c.1874A= (p.Asn625=) c.1886A= (p.Asn629=) c.1889A= (p.Asn630=) c.1898A= (p.Asn633=) c.1895A= (p.Asn632=) n.2293A= n.2312A= | |
4 | g.1806100A>C | CA355982406 | FGFR3 | c.1892A>C (p.Asn631Thr) c.*942A>C (n.*942A>C) c.1550A>C (p.Asn517Thr) c.1874A>C (p.Asn625Thr) c.1886A>C (p.Asn629Thr) c.1889A>C (p.Asn630Thr) c.1898A>C (p.Asn633Thr) c.1895A>C (p.Asn632Thr) n.2293A>C n.2312A>C | dbSNP |
4 | g.1806100A>G | CA355982408 | FGFR3 | c.1892A>G (p.Asn631Ser) c.*942A>G (n.*942A>G) c.1550A>G (p.Asn517Ser) c.1874A>G (p.Asn625Ser) c.1886A>G (p.Asn629Ser) c.1889A>G (p.Asn630Ser) c.1898A>G (p.Asn633Ser) c.1895A>G (p.Asn632Ser) n.2293A>G n.2312A>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.1806100A>T | CA355982409 | FGFR3 | c.1892A>T (p.Asn631Ile) c.*942A>T (n.*942A>T) c.1550A>T (p.Asn517Ile) c.1874A>T (p.Asn625Ile) c.1886A>T (p.Asn629Ile) c.1889A>T (p.Asn630Ile) c.1898A>T (p.Asn633Ile) c.1895A>T (p.Asn632Ile) n.2293A>T n.2312A>T | dbSNP |
4 | g.1806101C>A | CA355982411 | FGFR3 | c.1893C>A (p.Asn631Lys) c.*943C>A (n.*943C>A) c.1551C>A (p.Asn517Lys) c.1875C>A (p.Asn625Lys) c.1887C>A (p.Asn629Lys) c.1890C>A (p.Asn630Lys) c.1899C>A (p.Asn633Lys) c.1896C>A (p.Asn632Lys) n.2294C>A n.2313C>A | dbSNP gnomAD v4 |
4 | g.1806101C= | CA1433507794 | FGFR3 | c.1893C= (p.Asn631=) c.*943C= (n.*943C=) c.1551C= (p.Asn517=) c.1875C= (p.Asn625=) c.1887C= (p.Asn629=) c.1890C= (p.Asn630=) c.1899C= (p.Asn633=) c.1896C= (p.Asn632=) n.2294C= n.2313C= | |
4 | g.1806101C>G | CA355982413 | FGFR3 | c.1893C>G (p.Asn631Lys) c.*943C>G (n.*943C>G) c.1551C>G (p.Asn517Lys) c.1875C>G (p.Asn625Lys) c.1887C>G (p.Asn629Lys) c.1890C>G (p.Asn630Lys) c.1899C>G (p.Asn633Lys) c.1896C>G (p.Asn632Lys) n.2294C>G n.2313C>G | dbSNP |
4 | g.1806101C>T | CA156284 | FGFR3 | c.1893C>T (p.Asn631=) c.*943C>T (n.*943C>T) c.1551C>T (p.Asn517=) c.1875C>T (p.Asn625=) c.1887C>T (p.Asn629=) c.1890C>T (p.Asn630=) c.1899C>T (p.Asn633=) c.1896C>T (p.Asn632=) n.2294C>T n.2313C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1806102G>A | CA355982416 | FGFR3 | c.1894G>A (p.Val632Met) c.*944G>A (n.*944G>A) c.1552G>A (p.Val518Met) c.1876G>A (p.Val626Met) c.1888G>A (p.Val630Met) c.1891G>A (p.Val631Met) c.1900G>A (p.Val634Met) c.1897G>A (p.Val633Met) n.2295G>A n.2314G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
4 | g.1806102G>C | CA355982417 | FGFR3 | c.1894G>C (p.Val632Leu) c.*944G>C (n.*944G>C) c.1552G>C (p.Val518Leu) c.1876G>C (p.Val626Leu) c.1888G>C (p.Val630Leu) c.1891G>C (p.Val631Leu) c.1900G>C (p.Val634Leu) c.1897G>C (p.Val633Leu) n.2295G>C n.2314G>C | dbSNP gnomAD v4 |
4 | g.1806102G= | CA1433507795 | FGFR3 | c.1894G= (p.Val632=) c.*944G= (n.*944G=) c.1552G= (p.Val518=) c.1876G= (p.Val626=) c.1888G= (p.Val630=) c.1891G= (p.Val631=) c.1900G= (p.Val634=) c.1897G= (p.Val633=) n.2295G= n.2314G= | |
4 | g.1806102G>T | CA355982419 | FGFR3 | c.1894G>T (p.Val632Leu) c.*944G>T (n.*944G>T) c.1552G>T (p.Val518Leu) c.1876G>T (p.Val626Leu) c.1888G>T (p.Val630Leu) c.1891G>T (p.Val631Leu) c.1900G>T (p.Val634Leu) c.1897G>T (p.Val633Leu) n.2295G>T n.2314G>T | |
4 | g.1806103T>A | CA355982421 | FGFR3 | c.1895T>A (p.Val632Glu) c.*945T>A (n.*945T>A) c.1553T>A (p.Val518Glu) c.1877T>A (p.Val626Glu) c.1889T>A (p.Val630Glu) c.1892T>A (p.Val631Glu) c.1901T>A (p.Val634Glu) c.1898T>A (p.Val633Glu) n.2296T>A n.2315T>A | dbSNP |
4 | g.1806103T>C | CA355982425 | FGFR3 | c.1895T>C (p.Val632Ala) c.*945T>C (n.*945T>C) c.1553T>C (p.Val518Ala) c.1877T>C (p.Val626Ala) c.1889T>C (p.Val630Ala) c.1892T>C (p.Val631Ala) c.1901T>C (p.Val634Ala) c.1898T>C (p.Val633Ala) n.2296T>C n.2315T>C | |
4 | g.1806103T>G | CA355982423 | FGFR3 | c.1895T>G (p.Val632Gly) c.*945T>G (n.*945T>G) c.1553T>G (p.Val518Gly) c.1877T>G (p.Val626Gly) c.1889T>G (p.Val630Gly) c.1892T>G (p.Val631Gly) c.1901T>G (p.Val634Gly) c.1898T>G (p.Val633Gly) n.2296T>G n.2315T>G | dbSNP |
4 | g.1806104G>A | CA438063165 | FGFR3 | c.1896G>A (p.Val632=) c.*946G>A (n.*946G>A) c.1554G>A (p.Val518=) c.1878G>A (p.Val626=) c.1890G>A (p.Val630=) c.1893G>A (p.Val631=) c.1902G>A (p.Val634=) c.1899G>A (p.Val633=) n.2297G>A n.2316G>A | dbSNP |
4 | g.1806104G>C | CA438063164 | FGFR3 | c.1896G>C (p.Val632=) c.*946G>C (n.*946G>C) c.1554G>C (p.Val518=) c.1878G>C (p.Val626=) c.1890G>C (p.Val630=) c.1893G>C (p.Val631=) c.1902G>C (p.Val634=) c.1899G>C (p.Val633=) n.2297G>C n.2316G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.1806104G= | CA1433507796 | FGFR3 | c.1896G= (p.Val632=) c.*946G= (n.*946G=) c.1554G= (p.Val518=) c.1878G= (p.Val626=) c.1890G= (p.Val630=) c.1893G= (p.Val631=) c.1902G= (p.Val634=) c.1899G= (p.Val633=) n.2297G= n.2316G= | |
4 | g.1806104G>T | CA438063163 | FGFR3 | c.1896G>T (p.Val632=) c.*946G>T (n.*946G>T) c.1554G>T (p.Val518=) c.1878G>T (p.Val626=) c.1890G>T (p.Val630=) c.1893G>T (p.Val631=) c.1902G>T (p.Val634=) c.1899G>T (p.Val633=) n.2297G>T n.2316G>T | |
4 | g.1806105A>C | CA355982426 | FGFR3 | c.1897A>C (p.Met633Leu) c.*947A>C (n.*947A>C) c.1555A>C (p.Met519Leu) c.1879A>C (p.Met627Leu) c.1891A>C (p.Met631Leu) c.1894A>C (p.Met632Leu) c.1903A>C (p.Met635Leu) c.1900A>C (p.Met634Leu) n.2298A>C n.2317A>C | |
4 | g.1806105A>G | CA355982427 | FGFR3 | c.1897A>G (p.Met633Val) c.*947A>G (n.*947A>G) c.1555A>G (p.Met519Val) c.1879A>G (p.Met627Val) c.1891A>G (p.Met631Val) c.1894A>G (p.Met632Val) c.1903A>G (p.Met635Val) c.1900A>G (p.Met634Val) n.2298A>G n.2317A>G | |
4 | g.1806105A>T | CA355982429 | FGFR3 | c.1897A>T (p.Met633Leu) c.*947A>T (n.*947A>T) c.1555A>T (p.Met519Leu) c.1879A>T (p.Met627Leu) c.1891A>T (p.Met631Leu) c.1894A>T (p.Met632Leu) c.1903A>T (p.Met635Leu) c.1900A>T (p.Met634Leu) n.2298A>T n.2317A>T | dbSNP |
4 | g.1806106T>A | CA355982431 | FGFR3 | c.1898T>A (p.Met633Lys) c.*948T>A (n.*948T>A) c.1556T>A (p.Met519Lys) c.1880T>A (p.Met627Lys) c.1892T>A (p.Met631Lys) c.1895T>A (p.Met632Lys) c.1904T>A (p.Met635Lys) c.1901T>A (p.Met634Lys) n.2299T>A n.2318T>A | dbSNP |
4 | g.1806106T>C | CA355982433 | FGFR3 | c.1898T>C (p.Met633Thr) c.*948T>C (n.*948T>C) c.1556T>C (p.Met519Thr) c.1880T>C (p.Met627Thr) c.1892T>C (p.Met631Thr) c.1895T>C (p.Met632Thr) c.1904T>C (p.Met635Thr) c.1901T>C (p.Met634Thr) n.2299T>C n.2318T>C | dbSNP |
4 | g.1806106T>G | CA355982435 | FGFR3 | c.1898T>G (p.Met633Arg) c.*948T>G (n.*948T>G) c.1556T>G (p.Met519Arg) c.1880T>G (p.Met627Arg) c.1892T>G (p.Met631Arg) c.1895T>G (p.Met632Arg) c.1904T>G (p.Met635Arg) c.1901T>G (p.Met634Arg) n.2299T>G n.2318T>G | dbSNP |
4 | g.1806107G>A | CA355982437 | FGFR3 | c.1899G>A (p.Met633Ile) c.*949G>A (n.*949G>A) c.1557G>A (p.Met519Ile) c.1881G>A (p.Met627Ile) c.1893G>A (p.Met631Ile) c.1896G>A (p.Met632Ile) c.1905G>A (p.Met635Ile) c.1902G>A (p.Met634Ile) n.2300G>A n.2319G>A | dbSNP |
4 | g.1806107G>C | CA355982439 | FGFR3 | c.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 |
4 | g.1806107G>T | CA355982441 | FGFR3 | c.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 | |
4 | g.1806108A>C | CA355982445 | FGFR3 | c.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 | |
4 | g.1806108A>G | CA355982447 | FGFR3 | c.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 |
4 | g.1806108A>T | CA355982443 | FGFR3 | c.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 |
4 | g.1806109A>C | CA355982449 | FGFR3 | c.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 | |
4 | g.1806109A>G | CA355982451 | FGFR3 | c.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 |
4 | g.1806109A>T | CA355982452 | FGFR3 | c.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 |
4 | g.1806110G>A | CA438063172 | FGFR3 | c.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 |
4 | g.1806110G>C | CA355982454 | FGFR3 | c.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 |
4 | g.1806110G>T | CA355982456 | FGFR3 | c.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 | |
4 | g.1806111A>C | CA355982462 | FGFR3 | c.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 |
4 | g.1806111A>G | CA355982458 | FGFR3 | c.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 |
4 | g.1806111A>T | CA355982460 | FGFR3 | c.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 | |
4 | g.1806112T>A | CA355982464 | FGFR3 | c.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 |
4 | g.1806112T>C | CA355982466 | FGFR3 | c.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 | |
4 | g.1806112T>G | CA355982468 | FGFR3 | c.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 |
4 | g.1806113C>A | CA438063173 | FGFR3 | c.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 |
4 | g.1806113C= | CA1433507797 | FGFR3 | c.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= | |
4 | g.1806113C>G | CA355982470 | FGFR3 | c.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 |
4 | g.1806113C>T | CA2810622 | FGFR3 | c.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 |
4 | g.1806114G>A | CA355982474 | FGFR3 | c.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 |
4 | g.1806114G>C | CA355982477 | FGFR3 | c.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 |
4 | g.1806114G>T | CA355982475 | FGFR3 | c.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 |
4 | g.1806115C>A | CA355982480 | FGFR3 | c.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 | |
4 | g.1806115C= | CA1433507798 | FGFR3 | c.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= | |
4 | g.1806115C>G | CA2810623 | FGFR3 | c.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 |
4 | g.1806115C>T | CA355982481 | FGFR3 | c.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 |
4 | g.1806116A>C | CA438063178 | FGFR3 | c.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 | |
4 | g.1806116A>G | CA438063180 | FGFR3 | c.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 |
4 | g.1806116A>T | CA438063181 | FGFR3 | c.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 |
4 | g.1806117G>A | CA355982484 | FGFR3 | c.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 |
4 | g.1806117G>C | CA355982485 | FGFR3 | c.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 |
4 | g.1806117G>T | CA355982487 | FGFR3 | c.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 |
4 | g.1806118A>C | CA355982489 | FGFR3 | c.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 |
4 | g.1806118A>G | CA355982491 | FGFR3 | c.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 |
4 | g.1806118A>T | CA355982492 | FGFR3 | c.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 |
4 | g.1806119C>A | CA355982494 | FGFR3 | c.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 |
4 | g.1806119C>G | CA355982497 | FGFR3 | c.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 |
4 | g.1806119C>T | CA438063186 | FGFR3 | c.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 |
4 | g.1806120T>A | CA355982503 | FGFR3 | c.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 |
4 | g.1806120T>C | CA355982501 | FGFR3 | c.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 |
4 | g.1806120T>G | CA355982499 | FGFR3 | c.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 | |
4 | g.1806121T>A | CA355982504 | FGFR3 | c.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 |
4 | g.1806121T>C | CA355982506 | FGFR3 | c.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 |
4 | g.1806121T>G | CA355982505 | FGFR3 | c.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 | |
4 | g.1806122C>A | CA355982507 | FGFR3 | c.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 | |
4 | g.1806122C= | CA1433507799 | FGFR3 | c.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= | |
4 | g.1806122C>G | CA156287 | FGFR3 | c.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 |
4 | g.1806122C>T | CA438063190 | FGFR3 | c.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 |
4 | g.1806123G>A | CA355982508 | FGFR3 | c.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 |
4 | g.1806123G>C | CA355982509 | FGFR3 | c.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 |
4 | g.1806123G>T | CA355982510 | FGFR3 | c.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 |
4 | g.1806124G>A | CA355982511 | FGFR3 | c.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 |
4 | g.1806124G>C | CA355982512 | FGFR3 | c.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 |
4 | g.1806124G>T | CA355982513 | FGFR3 | c.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 |
4 | g.1806125G>A | CA438063195 | FGFR3 | c.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 |
4 | g.1806125G>C | CA438063196 | FGFR3 | c.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 |
4 | g.1806125G>T | CA438063194 | FGFR3 | c.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 |
4 | g.1806126C>A | CA355982514 | FGFR3 | c.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 |
4 | g.1806126C= | CA1433507800 | FGFR3 | c.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= | |
4 | g.1806126C>G | CA355982515 | FGFR3 | c.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 |
4 | g.1806126C>T | CA438063197 | FGFR3 | c.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 |
4 | g.1806127T>A | CA355982516 | FGFR3 | c.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 | |
4 | g.1806127T>C | CA355982517 | FGFR3 | c.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 | |
4 | g.1806127T>G | CA355982518 | FGFR3 | c.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 |
4 | g.1806128G>A | CA2810624 | FGFR3 | c.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 |
4 | g.1806128G>C | CA438063203 | FGFR3 | c.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 |
4 | g.1806128G= | CA1433507801 | FGFR3 | c.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= | |
4 | g.1806128G>T | CA438063201 | FGFR3 | c.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 |
4 | g.1806129G>A | CA355982519 | FGFR3 | c.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 |
4 | g.1806129G>C | CA355982520 | FGFR3 | c.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 | |
4 | g.1806129G>T | CA355982521 | FGFR3 | c.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 | |
4 | g.1806130C>A | CA355982522 | FGFR3 | c.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 |
4 | g.1806130C>G | CA355982523 | FGFR3 | c.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 |
4 | g.1806130C>T | CA355982524 | FGFR3 | c.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 |
4 | g.1806131C>A | CA438063205 | FGFR3 | c.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 | |
4 | g.1806131C>G | CA438063206 | FGFR3 | c.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 |
4 | g.1806131C>T | CA438063207 | FGFR3 | c.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 | |
4 | g.1806132C>A | CA438063209 | FGFR3 | c.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 |
4 | g.1806132C>G | CA355982525 | FGFR3 | c.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 |
4 | g.1806132C>T | CA355982526 | FGFR3 | c.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 |
4 | g.1806133G>A | CA355982527 | FGFR3 | c.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 |
4 | g.1806133G>C | CA355982528 | FGFR3 | c.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 | |
4 | g.1806133G= | CA1433507802 | FGFR3 | c.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= | |
4 | g.1806133G>T | CA355982529 | FGFR3 | c.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 |
4 | g.1806134G>A | CA438063212 | FGFR3 | c.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 | |
4 | g.1806134G>C | CA438063213 | FGFR3 | c.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 | |
4 | g.1806134G>T | CA438063214 | FGFR3 | c.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 | |
4 | g.1806135G>A | CA355982532 | FGFR3 | c.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 |
4 | g.1806135G>C | CA355982531 | FGFR3 | c.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 |
4 | g.1806135G>T | CA355982530 | FGFR3 | c.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 | |
4 | g.1806135_1806136delinsAT | CA1139658401 | FGFR3 | c.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 |
4 | g.1806135_1806136delinsGA | CA1433507803 | FGFR3 | c.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 | |
4 | g.1806136A= | CA1433507804 | FGFR3 | c.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= | |
4 | g.1806136A>C | CA355982533 | FGFR3 | c.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 |
4 | g.1806136A>G | CA355982534 | FGFR3 | c.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 |
4 | g.1806136A>T | CA355982535 | FGFR3 | c.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 |
4 | g.1806137C>A | CA355982536 | FGFR3 | c.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 |
4 | g.1806137C= | CA1433507805 | FGFR3 | c.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= | |
4 | g.1806137C>G | CA355982537 | FGFR3 | c.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 |
4 | g.1806137C>T | CA2810625 | FGFR3 | c.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 |
4 | g.1806138G>A | CA2810626 | FGFR3 | c.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 |
4 | g.1806138G>C | CA355982538 | FGFR3 | c.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 |
4 | g.1806138G= | CA1433507806 | FGFR3 | c.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= | |
4 | g.1806138G>T | CA355982539 | FGFR3 | c.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 |
4 | g.1806139T>A | CA355982540 | FGFR3 | c.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 |
4 | g.1806139T>C | CA355982541 | FGFR3 | c.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 |
4 | g.1806139T>G | CA355982542 | FGFR3 | c.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 |
4 | g.1806140G>A | CA438063229 | FGFR3 | c.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 |
4 | g.1806140G>C | CA438063227 | FGFR3 | c.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 | |
4 | g.1806140G>T | CA438063228 | FGFR3 | c.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 | |
4 | g.1806141C>A | CA355982545 | FGFR3 | c.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 | |
4 | g.1806141C>G | CA355982543 | FGFR3 | c.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 |
4 | g.1806141C>T | CA355982544 | FGFR3 | c.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 |
4 | g.1806142A>C | CA355982546 | FGFR3 | c.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 |
4 | g.1806142A>G | CA355982547 | FGFR3 | c.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 |
4 | g.1806142A>T | CA355982548 | FGFR3 | c.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 |
4 | g.1806143C>A | CA355982549 | FGFR3 | c.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 | |
4 | g.1806143C= | CA1433507807 | FGFR3 | c.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= | |
4 | g.1806143C>G | CA355982550 | FGFR3 | c.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 |
4 | g.1806143C>T | CA2810627 | FGFR3 | c.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 |
4 | g.1806144A>C | CA355982551 | FGFR3 | c.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 | |
4 | g.1806144A>G | CA355982552 | FGFR3 | c.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 |
4 | g.1806144A>T | CA355982553 | FGFR3 | c.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 |
4 | g.1806145A>C | CA355982554 | FGFR3 | c.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 |
4 | g.1806145A>G | CA355982555 | FGFR3 | c.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 | |
4 | g.1806145A>T | CA355982556 | FGFR3 | c.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 |
4 | g.1806146C>A | CA355982557 | FGFR3 | c.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 | |
4 | g.1806146C= | CA1433507808 | FGFR3 | c.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= | |
4 | g.1806146C>G | CA355982558 | FGFR3 | c.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 |
4 | g.1806146C>T | CA91257465 | FGFR3 | c.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 |
4 | g.1806147C>A | CA355982560 | FGFR3 | c.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 | |
4 | g.1806147C= | CA1433507809 | FGFR3 | c.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= | |
4 | g.1806147C>G | CA355982559 | FGFR3 | c.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 |
4 | g.1806147C>T | CA355982561 | FGFR3 | c.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 | |
4 | g.1806148T>A | CA355982562 | FGFR3 | c.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 |
4 | g.1806148T>C | CA355982563 | FGFR3 | c.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 |
4 | g.1806148T>G | CA355982564 | FGFR3 | c.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 | |
4 | g.1806149C>A | CA438063240 | FGFR3 | c.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 |
4 | g.1806149C= | CA1433507810 | FGFR3 | c.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= | |
4 | g.1806149C>G | CA438063241 | FGFR3 | c.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 |
4 | g.1806149C>T | CA156290 | FGFR3 | c.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 |
4 | g.1806150G>A | CA355982565 | FGFR3 | c.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 |
4 | g.1806150G>C | CA355982566 | FGFR3 | c.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 | |
4 | g.1806150G= | CA1433507811 | FGFR3 | c.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= | |
4 | g.1806150G>T | CA355982567 | FGFR3 | c.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 |
4 | g.1806151A>C | CA355982568 | FGFR3 | c.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 |
4 | g.1806151A>G | CA355982569 | FGFR3 | c.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 | |
4 | g.1806151A>T | CA355982570 | FGFR3 | c.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 |
4 | g.1806152C>A | CA355982571 | FGFR3 | c.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 |
4 | g.1806152C= | CA1433507812 | FGFR3 | c.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= | |
4 | g.1806152C>G | CA355982572 | FGFR3 | c.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 |
4 | g.1806152C>T | CA2810628 | FGFR3 | c.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 |
4 | g.1806153T>A | CA355982573 | FGFR3 | c.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 | |
4 | g.1806153T>C | CA355982575 | FGFR3 | c.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 | |
4 | g.1806153T>G | CA355982574 | FGFR3 | c.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 | |
4 | g.1806154A>C | CA355982576 | FGFR3 | c.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 |
4 | g.1806154A>G | CA355982577 | FGFR3 | c.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 | |
4 | g.1806154A>T | CA355982578 | FGFR3 | c.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 |
4 | g.1806155C>A | CA355982579 | FGFR3 | c.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 |
4 | g.1806155C>G | CA355982580 | FGFR3 | c.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 |
4 | g.1806155C>T | CA438063253 | FGFR3 | c.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 |
4 | g.1806156T>A | CA355982581 | FGFR3 | c.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 |
4 | g.1806156T>C | CA355982582 | FGFR3 | c.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 |
4 | g.1806156T>G | CA355982583 | FGFR3 | c.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 | |
4 | g.1806157A= | CA1433507813 | FGFR3 | c.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= | |
4 | g.1806157A>C | CA16603111 | FGFR3 | c.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 |
4 | g.1806157A>G | CA91257471 | FGFR3 | c.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 |
4 | g.1806157A>T | CA16603110 | FGFR3 | c.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 |
4 | g.1806158C>A | CA355982584 | FGFR3 | c.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 |
4 | g.1806158C= | CA1433507815 | FGFR3 | c.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= | |
4 | g.1806158C>G | CA355982585 | FGFR3 | c.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 |
4 | g.1806158C>T | CA2810629 | FGFR3 | c.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 |
4 | g.1806158_1806161delinsCAAG | CA1433507814 | FGFR3 | c.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 | |
4 | g.1806159A>C | CA355982586 | FGFR3 | c.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 | |
4 | g.1806159A>G | CA355982588 | FGFR3 | c.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 |
4 | g.1806159A>T | CA355982590 | FGFR3 | c.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 |
4 | g.1806163_1806165del | CA2810630 | FGFR3 | c.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 |
4 | g.1806160A= | CA1433507816 | FGFR3 | c.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= | |
4 | g.1806160A>C | CA355982592 | FGFR3 | c.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 | |
4 | g.1806160A>G | CA355982594 | FGFR3 | c.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 |
4 | g.1806160A>T | CA355982596 | FGFR3 | c.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 |
4 | g.1806161G>A | CA2810631 | FGFR3 | c.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 |
4 | g.1806161G>C | CA355982599 | FGFR3 | c.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 |
4 | g.1806161G= | CA1433507817 | FGFR3 | c.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= | |
4 | g.1806161G>T | CA355982601 | FGFR3 | c.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 | |
4 | g.1806162A= | CA1433507818 | FGFR3 | c.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= | |
4 | g.1806162A>C | CA170755 | FGFR3 | c.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 |
4 | g.1806162A>G | CA126376 | FGFR3 | c.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 |
4 | g.1806162A>T | CA355982604 | FGFR3 | c.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 | |
4 | g.1806162_1806163delinsCT | CA2573130207 | FGFR3 | c.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 | |
4 | g.1806162_1806164delinsGAC | CA2573130206 | FGFR3 | c.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 | |
4 | g.1806163A= | CA1433507819 | FGFR3 | c.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= | |
4 | g.1806163A>C | CA345185 | FGFR3 | c.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 |
4 | g.1806163A>G | CA355982606 | FGFR3 | c.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 |
4 | g.1806163A>T | CA126382 | FGFR3 | c.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 |
4 | g.1806163_1806165delinsTGC | CA2586965955 | FGFR3 | c.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 | |
4 | g.1806164G>A | CA438063262 | FGFR3 | c.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 |
4 | g.1806164G>C | CA280221 | FGFR3 | c.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 |
4 | g.1806164G= | CA1433507820 | FGFR3 | c.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= | |
4 | g.1806164G>T | CA341419 | FGFR3 | c.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 |
4 | g.1806165A>C | CA355982611 | FGFR3 | c.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 | |
4 | g.1806165A>G | CA355982614 | FGFR3 | c.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 | |
4 | g.1806165A>T | CA355982615 | FGFR3 | c.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 | |
4 | g.1806166C>A | CA355982618 | FGFR3 | c.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 | |
4 | g.1806166C>G | CA355982619 | FGFR3 | c.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 | |
4 | g.1806166C>T | CA355982622 | FGFR3 | c.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 |
4 | g.1806167G>A | CA2810632 | FGFR3 | c.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 |
4 | g.1806167G>C | CA438063264 | FGFR3 | c.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 |
4 | g.1806167G= | CA16605084 | FGFR3 | c.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= | |
4 | g.1806167G>T | CA438063265 | FGFR3 | c.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 | |
4 | g.1806168A= | CA1433507821 | FGFR3 | c.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= | |
4 | g.1806168A>C | CA355982625 | FGFR3 | c.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 | |
4 | g.1806168A>G | CA355982627 | FGFR3 | c.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 |
4 | g.1806168A>T | CA355982628 | FGFR3 | c.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 |
4 | g.1806169C>A | CA355982632 | FGFR3 | c.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 | |
4 | g.1806169C= | CA1433507822 | FGFR3 | c.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= | |
4 | g.1806169C>G | CA2810633 | FGFR3 | c.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 |
4 | g.1806169C>T | CA355982631 | FGFR3 | c.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 |
4 | g.1806170C>A | CA438063270 | FGFR3 | c.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 |
4 | g.1806170C= | CA1433507823 | FGFR3 | c.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= | |
4 | g.1806170C>G | CA438063272 | FGFR3 | c.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 |
4 | g.1806170C>T | CA438063271 | FGFR3 | c.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 |