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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |