ClinVar Miner

List of variants in gene FGFR1 studied for Kallmann syndrome

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 713
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_023110.2(FGFR1):c.-751C>T rs2445003 0.95502
NM_023110.3(FGFR1):c.-636C>T rs3213849 0.34931
NM_023110.3(FGFR1):c.-385G>A rs2467531 0.06909
NM_023110.3(FGFR1):c.-699C>T rs328307 0.06862
NM_023110.2(FGFR1):c.-881G>A rs17182051 0.02149
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00782
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=) rs56341011 0.00711
NM_023110.3(FGFR1):c.-358C>T rs17175673 0.00647
NM_023110.3(FGFR1):c.345C>T (p.Ser115=) rs2915665 0.00567
NM_023110.3(FGFR1):c.-286C>T rs4647909 0.00398
NM_023110.3(FGFR1):c.*569C>T rs17182470 0.00392
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_023110.3(FGFR1):c.-578A>C rs558180061 0.00124
NM_023110.3(FGFR1):c.449-9C>G rs17182303 0.00115
NM_023110.3(FGFR1):c.1081+20C>T rs17175982 0.00092
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=) rs56174879 0.00079
NM_023110.3(FGFR1):c.-338T>G rs527518565 0.00077
NM_023110.3(FGFR1):c.1855-16C>T rs371160786 0.00071
NM_023110.2(FGFR1):c.-853G>C rs553799602 0.00064
NM_023110.3(FGFR1):c.2361G>A (p.Thr787=) rs200408837 0.00058
NM_023110.3(FGFR1):c.-717C>T rs772480875 0.00052
NM_023110.3(FGFR1):c.*203G>A rs750732571 0.00051
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_023110.3(FGFR1):c.1854+19C>T rs199830036 0.00041
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=) rs201490643 0.00041
NM_023110.3(FGFR1):c.1553-13G>A rs17182414 0.00040
NM_023110.3(FGFR1):c.*391C>T rs764328455 0.00038
NM_023110.3(FGFR1):c.177C>T (p.Asp59=) rs367880371 0.00037
NM_023110.3(FGFR1):c.*113G>A rs180885042 0.00036
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=) rs150652786 0.00034
NM_023110.3(FGFR1):c.1431-5G>A rs201773631 0.00033
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=) rs374507681 0.00029
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463 0.00029
NM_023110.3(FGFR1):c.359-4A>G rs185233212 0.00027
NM_023110.3(FGFR1):c.-741A>G rs971464879 0.00021
NM_023110.3(FGFR1):c.168G>A (p.Arg56=) rs147482922 0.00021
NM_023110.3(FGFR1):c.*345T>A rs751699851 0.00016
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=) rs144131616 0.00016
NM_023110.3(FGFR1):c.304G>A (p.Val102Ile) rs55642501 0.00016
NM_023110.3(FGFR1):c.1082-13C>T rs185831613 0.00015
NM_023110.3(FGFR1):c.1386G>A (p.Glu462=) rs375796487 0.00014
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=) rs376173540 0.00014
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg) rs200482627 0.00014
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val) rs201574031 0.00013
NM_023110.3(FGFR1):c.2186+8C>T rs372639138 0.00012
NM_023110.3(FGFR1):c.394G>A (p.Asp132Asn) rs562958780 0.00011
NM_023110.3(FGFR1):c.92-13G>A rs373032952 0.00011
NM_023110.3(FGFR1):c.*14G>A rs371776128 0.00010
NM_023110.3(FGFR1):c.1409G>T (p.Arg470Leu) rs121909637 0.00010
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys) rs767195580 0.00010
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=) rs763571736 0.00010
NM_023110.3(FGFR1):c.75G>A (p.Pro25=) rs17175757 0.00010
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His) rs369356672 0.00009
NM_023110.3(FGFR1):c.1978-8del rs112311314 0.00009
NM_023110.3(FGFR1):c.273C>T (p.Ser91=) rs201823433 0.00009
NM_023110.3(FGFR1):c.375G>A (p.Ser125=) rs17182296 0.00009
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu) rs201054877 0.00009
NM_023110.3(FGFR1):c.69G>A (p.Pro23=) rs369704492 0.00009
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=) rs377010221 0.00009
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=) rs746123129 0.00008
NM_023110.3(FGFR1):c.211G>T (p.Val71Leu) rs561300213 0.00008
NM_023110.3(FGFR1):c.297T>C (p.Tyr99=) rs552562422 0.00008
NM_023110.3(FGFR1):c.-320C>T rs1356662413 0.00007
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys) rs781310679 0.00007
NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu) rs377620009 0.00007
NM_023110.3(FGFR1):c.359-13C>G rs376369060 0.00007
NM_023110.3(FGFR1):c.-555G>A rs901616183 0.00006
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) rs752627281 0.00006
NM_023110.3(FGFR1):c.1285-15C>T rs760069564 0.00006
NM_023110.3(FGFR1):c.1977+10G>A rs770318743 0.00006
NM_023110.3(FGFR1):c.2049-13C>T rs756845879 0.00006
NM_023110.3(FGFR1):c.2292+3A>G rs747737281 0.00006
NM_023110.3(FGFR1):c.358+18G>T rs375458309 0.00006
NM_023110.3(FGFR1):c.2351G>A (p.Arg784Gln) rs746602135 0.00005
NM_023110.3(FGFR1):c.350A>G (p.Asn117Ser) rs780765366 0.00005
NM_023110.3(FGFR1):c.745+7G>A rs202096944 0.00005
NM_023110.3(FGFR1):c.937-6T>G rs374904700 0.00005
NM_023110.2(FGFR1):c.-747C>G rs917928821 0.00004
NM_023110.3(FGFR1):c.*252G>A rs781117513 0.00004
NM_023110.3(FGFR1):c.1005C>T (p.Asp335=) rs1331582263 0.00004
NM_023110.3(FGFR1):c.1176G>A (p.Gly392=) rs56273573 0.00004
NM_023110.3(FGFR1):c.1431-6C>T rs375706016 0.00004
NM_023110.3(FGFR1):c.1477G>A (p.Val493Met) rs752601407 0.00004
NM_023110.3(FGFR1):c.2187-5C>T rs770230705 0.00004
NM_023110.3(FGFR1):c.2293-11G>A rs886062919 0.00004
NM_023110.3(FGFR1):c.2400G>A (p.Pro800=) rs780308433 0.00004
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg) rs773938208 0.00004
NM_023110.3(FGFR1):c.333C>T (p.Thr111=) rs771522317 0.00004
NM_023110.3(FGFR1):c.449-8C>A rs551551806 0.00004
NM_023110.3(FGFR1):c.566G>A (p.Arg189His) rs778166317 0.00004
NM_023110.3(FGFR1):c.621+7G>T rs377200873 0.00004
NM_023110.3(FGFR1):c.741C>T (p.Val247=) rs745325958 0.00004
NM_023110.3(FGFR1):c.742G>A (p.Val248Met) rs186746130 0.00004
NM_023110.3(FGFR1):c.92-14C>T rs547772178 0.00004
NM_023110.3(FGFR1):c.937-14G>A rs779223305 0.00004
NM_023110.3(FGFR1):c.937-4C>T rs777156333 0.00004
NM_023110.3(FGFR1):c.*262C>T rs915960243 0.00003
NM_023110.3(FGFR1):c.*70C>T rs886062918 0.00003
NM_023110.3(FGFR1):c.1319G>A (p.Gly440Glu) rs372654433 0.00003
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln) rs747333248 0.00003
NM_023110.3(FGFR1):c.1595T>C (p.Met532Thr) rs777345476 0.00003
NM_023110.3(FGFR1):c.1663+9C>T rs557754125 0.00003
NM_023110.3(FGFR1):c.169C>A (p.Leu57Met) rs1301127877 0.00003
NM_023110.3(FGFR1):c.181G>A (p.Val61Met) rs762089291 0.00003
NM_023110.3(FGFR1):c.2049-12G>A rs563601371 0.00003
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=) rs777061347 0.00003
NM_023110.3(FGFR1):c.2186+19C>T rs776791517 0.00003
NM_023110.3(FGFR1):c.449-7C>T rs754454127 0.00003
NM_023110.3(FGFR1):c.456T>C (p.Ala152=) rs369175953 0.00003
NM_023110.3(FGFR1):c.92-20C>T rs559825541 0.00003
NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys) rs777103792 0.00002
NM_023110.3(FGFR1):c.1178C>T (p.Ser393Leu) rs369059499 0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_023110.3(FGFR1):c.1663+10G>A rs901498652 0.00002
NM_023110.3(FGFR1):c.1809C>T (p.Cys603=) rs377314381 0.00002
NM_023110.3(FGFR1):c.193A>C (p.Asn65His) rs768919123 0.00002
NM_023110.3(FGFR1):c.1953C>T (p.Ile651=) rs376421301 0.00002
NM_023110.3(FGFR1):c.2007C>T (p.Pro669=) rs760681522 0.00002
NM_023110.3(FGFR1):c.208G>A (p.Gly70Arg) rs140254426 0.00002
NM_023110.3(FGFR1):c.2091C>T (p.Gly697=) rs773144331 0.00002
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=) rs774683007 0.00002
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His) rs374473310 0.00002
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln) rs771680156 0.00002
NM_023110.3(FGFR1):c.243C>T (p.Ile81=) rs764340351 0.00002
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His) rs758677681 0.00002
NM_023110.3(FGFR1):c.288C>T (p.Ser96=) rs757362905 0.00002
NM_023110.3(FGFR1):c.322G>A (p.Gly108Ser) rs1419947824 0.00002
NM_023110.3(FGFR1):c.448+20C>T rs767029419 0.00002
NM_023110.3(FGFR1):c.451G>A (p.Val151Ile) rs762665767 0.00002
NM_023110.3(FGFR1):c.507G>A (p.Pro169=) rs374145904 0.00002
NM_023110.3(FGFR1):c.549C>T (p.Thr183=) rs886062920 0.00002
NM_023110.3(FGFR1):c.621+19G>A rs945311072 0.00002
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu) rs145434725 0.00002
NM_023110.3(FGFR1):c.937-15C>T rs966338298 0.00002
NM_023110.2(FGFR1):c.-755C>G rs1225240095 0.00001
NM_023110.2(FGFR1):c.-849C>A rs1050158070 0.00001
NM_023110.3(FGFR1):c.*112C>T rs1189535138 0.00001
NM_023110.3(FGFR1):c.-444C>T rs1835972353 0.00001
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile) rs774768179 0.00001
NM_023110.3(FGFR1):c.1078G>A (p.Glu360Lys) rs982371464 0.00001
NM_023110.3(FGFR1):c.1100C>T (p.Ala367Val) rs1324436328 0.00001
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser) rs377648976 0.00001
NM_023110.3(FGFR1):c.1179G>A (p.Ser393=) rs374674165 0.00001
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=) rs756104594 0.00001
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys) rs1085307493 0.00001
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=) rs546318124 0.00001
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp) rs781608303 0.00001
NM_023110.3(FGFR1):c.1430+13T>C rs763815221 0.00001
NM_023110.3(FGFR1):c.1430+9A>G rs371390925 0.00001
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser) rs397515444 0.00001
NM_023110.3(FGFR1):c.1449C>T (p.Pro483=) rs755702592 0.00001
NM_023110.3(FGFR1):c.1476G>A (p.Val492=) rs1817294749 0.00001
NM_023110.3(FGFR1):c.1492A>G (p.Ile498Val) rs767419329 0.00001
NM_023110.3(FGFR1):c.1554G>A (p.Ser518=) rs199499923 0.00001
NM_023110.3(FGFR1):c.1558G>A (p.Ala520Thr) rs749758370 0.00001
NM_023110.3(FGFR1):c.160C>T (p.Arg54Cys) rs778531708 0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys) rs771720144 0.00001
NM_023110.3(FGFR1):c.1721A>G (p.Gln574Arg) rs903239767 0.00001
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln) rs200116660 0.00001
NM_023110.3(FGFR1):c.1774G>A (p.Glu592Lys) rs755002934 0.00001
NM_023110.3(FGFR1):c.1869C>T (p.Asp623=) rs780009859 0.00001
NM_023110.3(FGFR1):c.1977+18C>T rs201805975 0.00001
NM_023110.3(FGFR1):c.1977+9C>T rs372632166 0.00001
NM_023110.3(FGFR1):c.1978-13G>A rs761708658 0.00001
NM_023110.3(FGFR1):c.1978-16C>T rs764971696 0.00001
NM_023110.3(FGFR1):c.2048+18A>G rs1340003441 0.00001
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=) rs1193961883 0.00001
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg) rs532741632 0.00001
NM_023110.3(FGFR1):c.2181C>T (p.Asn727=) rs767613285 0.00001
NM_023110.3(FGFR1):c.2186+18T>G rs764343061 0.00001
NM_023110.3(FGFR1):c.2187-14C>T rs1390439587 0.00001
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp) rs1329256283 0.00001
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=) rs369782405 0.00001
NM_023110.3(FGFR1):c.2272G>A (p.Val758Met) rs527606454 0.00001
NM_023110.3(FGFR1):c.2292+6G>T rs905873179 0.00001
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp) rs377149398 0.00001
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs) rs767698667 0.00001
NM_023110.3(FGFR1):c.2447A>G (p.Asn816Ser) rs1815142188 0.00001
NM_023110.3(FGFR1):c.2451C>T (p.Gly817=) rs1014179319 0.00001
NM_023110.3(FGFR1):c.2452G>A (p.Gly818Arg) rs17182456 0.00001
NM_023110.3(FGFR1):c.274G>A (p.Val92Met) rs755828990 0.00001
NM_023110.3(FGFR1):c.279C>T (p.Pro93=) rs781034707 0.00001
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile) rs775020833 0.00001
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) rs747842199 0.00001
NM_023110.3(FGFR1):c.359-7C>T rs749216266 0.00001
NM_023110.3(FGFR1):c.359-9T>C rs770811938 0.00001
NM_023110.3(FGFR1):c.374C>T (p.Ser125Leu) rs121913473 0.00001
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu) rs750795714 0.00001
NM_023110.3(FGFR1):c.386A>C (p.Asp129Ala) rs765615419 0.00001
NM_023110.3(FGFR1):c.38T>C (p.Leu13Pro) rs764533580 0.00001
NM_023110.3(FGFR1):c.39G>A (p.Leu13=) rs760206071 0.00001
NM_023110.3(FGFR1):c.405T>C (p.Ser135=) rs374139613 0.00001
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys) rs780153672 0.00001
NM_023110.3(FGFR1):c.443G>A (p.Arg148His) rs515726222 0.00001
NM_023110.3(FGFR1):c.448C>T (p.Pro150Ser) rs746094709 0.00001
NM_023110.3(FGFR1):c.450C>T (p.Pro150=) rs766091702 0.00001
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg) rs770139002 0.00001
NM_023110.3(FGFR1):c.615C>T (p.Gly205=) rs781689191 0.00001
NM_023110.3(FGFR1):c.621+4C>T rs750639887 0.00001
NM_023110.3(FGFR1):c.646A>G (p.Ile216Val) rs763771933 0.00001
NM_023110.3(FGFR1):c.648A>C (p.Ile216=) rs756132460 0.00001
NM_023110.3(FGFR1):c.663G>T (p.Val221=) rs766451294 0.00001
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser) rs17175750 0.00001
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu) rs143341876 0.00001
NM_023110.3(FGFR1):c.708C>T (p.Tyr236=) rs373644620 0.00001
NM_023110.3(FGFR1):c.786C>T (p.Pro262=) rs769599671 0.00001
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) rs747978107 0.00001
NM_023110.3(FGFR1):c.81G>T (p.Leu27Phe) rs1230569367 0.00001
NM_023110.3(FGFR1):c.891G>A (p.Gly297=) rs774652525 0.00001
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn) rs751651299 0.00001
NM_023110.3(FGFR1):c.91+6G>T rs886062921 0.00001
NM_023110.3(FGFR1):c.937-10T>C rs757823303 0.00001
NC_000008.10:g.(?_38314854)_(38314964_?)del
NC_000008.11:g.(?_38424489)_(38461126_?)del
NM_023110.2(FGFR1):c.[2165C>A;2172C>G]
NM_023110.3(FGFR1):c.*118C>T rs886062916
NM_023110.3(FGFR1):c.*212G>A rs1815042970
NM_023110.3(FGFR1):c.*231C>T rs1815036929
NM_023110.3(FGFR1):c.*313T>C rs886062915
NM_023110.3(FGFR1):c.*313T>G rs886062915
NM_023110.3(FGFR1):c.*494A>G rs562843836
NM_023110.3(FGFR1):c.*71A>G rs886062917
NM_023110.3(FGFR1):c.-413G>A rs984098100
NM_023110.3(FGFR1):c.-434G>A rs941457992
NM_023110.3(FGFR1):c.-466C>T rs1835975713
NM_023110.3(FGFR1):c.-522G>T rs1208796305
NM_023110.3(FGFR1):c.-552C>G rs1835988153
NM_023110.3(FGFR1):c.-88-3566dup rs1424371425
NM_023110.3(FGFR1):c.1009G>C (p.Gly337Arg)
NM_023110.3(FGFR1):c.1011G>A (p.Gly337=)
NM_023110.3(FGFR1):c.1016A>G (p.Tyr339Cys)
NM_023110.3(FGFR1):c.1018A>G (p.Thr340Ala)
NM_023110.3(FGFR1):c.1019C>T (p.Thr340Met) rs1064793123
NM_023110.3(FGFR1):c.1020G>A (p.Thr340=)
NM_023110.3(FGFR1):c.1025T>C (p.Leu342Ser) rs121909638
NM_023110.3(FGFR1):c.1028C>T (p.Ala343Val) rs1818935081
NM_023110.3(FGFR1):c.1037C>G (p.Ser346Cys)
NM_023110.3(FGFR1):c.1037_1038del (p.Ser346fs) rs727505371
NM_023110.3(FGFR1):c.1039dup (p.Ile347fs)
NM_023110.3(FGFR1):c.1042G>A (p.Gly348Arg) rs886037634
NM_023110.3(FGFR1):c.1043G>A (p.Gly348Glu) rs1818930617
NM_023110.3(FGFR1):c.1044A>C (p.Gly348=)
NM_023110.3(FGFR1):c.1058C>T (p.Ser353Phe)
NM_023110.3(FGFR1):c.1062A>G (p.Ala354=)
NM_023110.3(FGFR1):c.1063T>C (p.Trp355Arg)
NM_023110.3(FGFR1):c.1063_1064dup (p.Trp355fs)
NM_023110.3(FGFR1):c.1064G>C (p.Trp355Ser) rs1563474845
NM_023110.3(FGFR1):c.106G>A (p.Ala36Thr) rs2150966948
NM_023110.3(FGFR1):c.1072G>C (p.Val358Leu) rs774768179
NM_023110.3(FGFR1):c.1081+16T>C rs1414301323
NM_023110.3(FGFR1):c.1081+1G>A
NM_023110.3(FGFR1):c.1081+1G>T
NM_023110.3(FGFR1):c.1081+20_1081+22del
NM_023110.3(FGFR1):c.1081+8C>G
NM_023110.3(FGFR1):c.1081+9T>C
NM_023110.3(FGFR1):c.1081G>C (p.Ala361Pro)
NM_023110.3(FGFR1):c.1082-12G>A
NM_023110.3(FGFR1):c.1082-20C>T
NM_023110.3(FGFR1):c.1096C>T (p.Pro366Ser)
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.3(FGFR1):c.1113G>A (p.Ser371=)
NM_023110.3(FGFR1):c.111del (p.Val38fs)
NM_023110.3(FGFR1):c.112G>A (p.Val38Met)
NM_023110.3(FGFR1):c.113dup (p.Glu39fs)
NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg) rs121909634
NM_023110.3(FGFR1):c.1152dup (p.Phe385fs)
NM_023110.3(FGFR1):c.1167C>T (p.Cys389=) rs1338926241
NM_023110.3(FGFR1):c.1168A>G (p.Met390Val) rs376921992
NM_023110.3(FGFR1):c.1179G>T (p.Ser393=) rs374674165
NM_023110.3(FGFR1):c.1194G>A (p.Lys398=)
NM_023110.3(FGFR1):c.1203T>C (p.Ser401=)
NM_023110.3(FGFR1):c.1229G>A (p.Ser410Asn)
NM_023110.3(FGFR1):c.1231C>A (p.Gln411Lys) rs1817962450
NM_023110.3(FGFR1):c.1239T>C (p.Ala413=)
NM_023110.3(FGFR1):c.1244A>G (p.His415Arg) rs2150706408
NM_023110.3(FGFR1):c.1245C>T (p.His415=)
NM_023110.3(FGFR1):c.1248G>A (p.Lys416=)
NM_023110.3(FGFR1):c.1253C>T (p.Ala418Val)
NM_023110.3(FGFR1):c.1256A>G (p.Lys419Arg) rs1232639613
NM_023110.3(FGFR1):c.1264C>G (p.Pro422Ala) rs1817948350
NM_023110.3(FGFR1):c.1265dup (p.Leu423fs) rs2150705198
NM_023110.3(FGFR1):c.1270C>T (p.Arg424Cys)
NM_023110.3(FGFR1):c.1271G>A (p.Arg424His)
NM_023110.3(FGFR1):c.1272C>T (p.Arg424=)
NM_023110.3(FGFR1):c.1274G>A (p.Arg425Lys)
NM_023110.3(FGFR1):c.1279G>T (p.Val427Leu)
NM_023110.3(FGFR1):c.1285-20G>A
NM_023110.3(FGFR1):c.1285-2A>G
NM_023110.3(FGFR1):c.1285-5T>C
NM_023110.3(FGFR1):c.1285-8C>A rs1235765985
NM_023110.3(FGFR1):c.1285-8C>G
NM_023110.3(FGFR1):c.1285G>T (p.Val429Leu)
NM_023110.3(FGFR1):c.1286T>A (p.Val429Glu)
NM_023110.3(FGFR1):c.1289C>T (p.Ser430Phe)
NM_023110.3(FGFR1):c.1296C>T (p.Asp432=) rs1377886104
NM_023110.3(FGFR1):c.1322_1334del (p.Val441fs)
NM_023110.3(FGFR1):c.1324C>T (p.Leu442Phe)
NM_023110.3(FGFR1):c.1328T>C (p.Leu443Pro)
NM_023110.3(FGFR1):c.1329G>A (p.Leu443=)
NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln) rs758138124
NM_023110.3(FGFR1):c.1343G>T (p.Arg448Leu) rs758138124
NM_023110.3(FGFR1):c.1349C>T (p.Ser450Phe) rs2150675272
NM_023110.3(FGFR1):c.1352C>G (p.Ser451Cys)
NM_023110.3(FGFR1):c.1356T>C (p.Ser452=)
NM_023110.3(FGFR1):c.1376G>T (p.Gly459Val)
NM_023110.3(FGFR1):c.1384dup (p.Glu462fs)
NM_023110.3(FGFR1):c.1409G>A (p.Arg470His) rs121909637
NM_023110.3(FGFR1):c.140C>T (p.Pro47Leu)
NM_023110.3(FGFR1):c.141C>G (p.Pro47=) rs553706848
NM_023110.3(FGFR1):c.141C>T (p.Pro47=)
NM_023110.3(FGFR1):c.142G>A (p.Gly48Ser) rs121909640
NM_023110.3(FGFR1):c.1430+1G>A rs1554552774
NM_023110.3(FGFR1):c.1430+1G>T rs1554552774
NM_023110.3(FGFR1):c.1430+1del
NM_023110.3(FGFR1):c.1430+4A>G
NM_023110.3(FGFR1):c.1430+7_1430+9del rs772340109
NM_023110.3(FGFR1):c.1431-10C>T
NM_023110.3(FGFR1):c.1431-19T>A
NM_023110.3(FGFR1):c.1431-20CT[2] rs774739614
NM_023110.3(FGFR1):c.1431-7C>T
NM_023110.3(FGFR1):c.1443C>G (p.Gly481=) rs2150658041
NM_023110.3(FGFR1):c.1443C>T (p.Gly481=)
NM_023110.3(FGFR1):c.1443dup (p.Lys482fs)
NM_023110.3(FGFR1):c.1447C>A (p.Pro483Thr) rs397515444
NM_023110.3(FGFR1):c.1460G>A (p.Gly487Asp) rs515726224
NM_023110.3(FGFR1):c.1468G>A (p.Gly490Arg) rs869025670
NM_023110.3(FGFR1):c.1471C>T (p.Gln491Ter) rs2150655456
NM_023110.3(FGFR1):c.1473G>A (p.Gln491=)
NM_023110.3(FGFR1):c.1474G>A (p.Val492Met)
NM_023110.3(FGFR1):c.147C>T (p.Asp49=)
NM_023110.3(FGFR1):c.1494C>A (p.Ile498=)
NM_023110.3(FGFR1):c.1494C>T (p.Ile498=)
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg) rs759552236
NM_023110.3(FGFR1):c.1509C>T (p.Asp503=)
NM_023110.3(FGFR1):c.1512del (p.Lys504fs) rs1817280576
NM_023110.3(FGFR1):c.1519C>T (p.Arg507Cys)
NM_023110.3(FGFR1):c.1519_1520insTTTGTTGG (p.Arg507fs)
NM_023110.3(FGFR1):c.1520G>T (p.Arg507Leu)
NM_023110.3(FGFR1):c.1540A>C (p.Lys514Gln) rs199573818
NM_023110.3(FGFR1):c.154C>T (p.Gln52Ter)
NM_023110.3(FGFR1):c.1552+12T>C rs777138222
NM_023110.3(FGFR1):c.1552+1G>T
NM_023110.3(FGFR1):c.1552+5G>A
NM_023110.3(FGFR1):c.1552+8A>G
NM_023110.3(FGFR1):c.1552T>G (p.Ser518Ala)
NM_023110.3(FGFR1):c.1553-14C>T
NM_023110.3(FGFR1):c.1553-2A>G
NM_023110.3(FGFR1):c.1553C>T (p.Ser518Leu)
NM_023110.3(FGFR1):c.1568_1569dup (p.Asp524fs)
NM_023110.3(FGFR1):c.1589C>G (p.Ser530Ter)
NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly) rs1817052708
NM_023110.3(FGFR1):c.1592_1594del (p.Glu531_Met532delinsVal)
NM_023110.3(FGFR1):c.1600A>G (p.Met534Val)
NM_023110.3(FGFR1):c.1612A>G (p.Ile538Val)
NM_023110.3(FGFR1):c.1615G>A (p.Gly539Arg) rs201158796
NM_023110.3(FGFR1):c.1617G>A (p.Gly539=)
NM_023110.3(FGFR1):c.162C>G (p.Arg54=)
NM_023110.3(FGFR1):c.1631_1632dup (p.Ile545fs)
NM_023110.3(FGFR1):c.164G>A (p.Cys55Tyr) rs2150964150
NM_023110.3(FGFR1):c.1655C>G (p.Thr552Arg) rs760702592
NM_023110.3(FGFR1):c.165_171del (p.Arg56fs)
NM_023110.3(FGFR1):c.1663+20G>A
NM_023110.3(FGFR1):c.1664-18C>T
NM_023110.3(FGFR1):c.1673del (p.Tyr558fs)
NM_023110.3(FGFR1):c.1678A>G (p.Ile560Val) rs2150591908
NM_023110.3(FGFR1):c.1680C>T (p.Ile560=) rs1019589019
NM_023110.3(FGFR1):c.1684G>T (p.Glu562Ter)
NM_023110.3(FGFR1):c.1686G>A (p.Glu562=)
NM_023110.3(FGFR1):c.1689T>C (p.Tyr563=) rs2150591250
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) rs768223019
NM_023110.3(FGFR1):c.1697A>G (p.Lys566Arg) rs531903077
NM_023110.3(FGFR1):c.1703A>G (p.Asn568Ser)
NM_023110.3(FGFR1):c.1711del (p.Glu571fs) rs1060499663
NM_023110.3(FGFR1):c.1713G>A (p.Glu571=) rs1816417552
NM_023110.3(FGFR1):c.1716C>T (p.Tyr572=)
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln) rs1482868825
NM_023110.3(FGFR1):c.1727_1734del (p.Arg576fs)
NM_023110.3(FGFR1):c.172C>T (p.Arg58Trp) rs1162148796
NM_023110.3(FGFR1):c.1731G>A (p.Arg577=)
NM_023110.3(FGFR1):c.1755C>A (p.Tyr585Ter)
NM_023110.3(FGFR1):c.1759C>T (p.Pro587Ser)
NM_023110.3(FGFR1):c.1770C>T (p.Asn590=) rs2150585961
NM_023110.3(FGFR1):c.1771C>A (p.Pro591Thr) rs2150585866
NM_023110.3(FGFR1):c.1775A>G (p.Glu592Gly)
NM_023110.3(FGFR1):c.1791_1820del (p.Lys598_Val607del)
NM_023110.3(FGFR1):c.1795G>A (p.Asp599Asn)
NM_023110.3(FGFR1):c.179A>T (p.Asp60Val)
NM_023110.3(FGFR1):c.179_208del (p.Asp60_Asp69del) rs1387712427
NM_023110.3(FGFR1):c.17G>C (p.Cys6Ser)
NM_023110.3(FGFR1):c.1809C>A (p.Cys603Ter)
NM_023110.3(FGFR1):c.1815C>T (p.Tyr605=) rs374740971
NM_023110.3(FGFR1):c.1820dup (p.Ala608fs) rs1816367128
NM_023110.3(FGFR1):c.1823C>A (p.Ala608Asp) rs1816366242
NM_023110.3(FGFR1):c.1825C>G (p.Arg609Gly)
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.3(FGFR1):c.1829G>A (p.Gly610Asp)
NM_023110.3(FGFR1):c.1829G>T (p.Gly610Val)
NM_023110.3(FGFR1):c.182T>C (p.Val61Ala)
NM_023110.3(FGFR1):c.1835A>G (p.Glu612Gly)
NM_023110.3(FGFR1):c.1845C>A (p.Ala615=)
NM_023110.3(FGFR1):c.1854+14A>C
NM_023110.3(FGFR1):c.1854+15_1854+31del
NM_023110.3(FGFR1):c.1854+17C>G
NM_023110.3(FGFR1):c.1854+17C>T
NM_023110.3(FGFR1):c.1854+1G>A
NM_023110.3(FGFR1):c.1854+7A>T
NM_023110.3(FGFR1):c.1854G>T (p.Lys618Asn)
NM_023110.3(FGFR1):c.1855-14_1855-11del
NM_023110.3(FGFR1):c.1855-1G>A rs2150565807
NM_023110.3(FGFR1):c.1855-2A>C
NM_023110.3(FGFR1):c.1855-2A>G
NM_023110.3(FGFR1):c.1855-5C>T
NM_023110.3(FGFR1):c.1855-8T>C
NM_023110.3(FGFR1):c.185_199del (p.Gln62_Trp66del) rs2150962421
NM_023110.3(FGFR1):c.1862A>C (p.His621Pro) rs2150565397
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.3(FGFR1):c.1864dup (p.Arg622fs)
NM_023110.3(FGFR1):c.1865G>A (p.Arg622Gln) rs1815818452
NM_023110.3(FGFR1):c.1871T>C (p.Leu624Pro) rs1586113652
NM_023110.3(FGFR1):c.1875A>G (p.Ala625=)
NM_023110.3(FGFR1):c.1883A>G (p.Asn628Ser)
NM_023110.3(FGFR1):c.1889T>C (p.Leu630Pro)
NM_023110.3(FGFR1):c.1898_1899del (p.Glu633fs) rs1815805060
NM_023110.3(FGFR1):c.1907T>A (p.Val636Glu) rs2150563316
NM_023110.3(FGFR1):c.1909A>G (p.Met637Val) rs2150563224
NM_023110.3(FGFR1):c.1916T>C (p.Ile639Thr) rs727505370
NM_023110.3(FGFR1):c.1919C>T (p.Ala640Val) rs1815800575
NM_023110.3(FGFR1):c.1922A>G (p.Asp641Gly)
NM_023110.3(FGFR1):c.1931T>G (p.Leu644Arg)
NM_023110.3(FGFR1):c.1932C>T (p.Leu644=)
NM_023110.3(FGFR1):c.1936C>G (p.Arg646Gly)
NM_023110.3(FGFR1):c.1946del (p.His649fs)
NM_023110.3(FGFR1):c.1948del (p.His650fs)
NM_023110.3(FGFR1):c.194A>G (p.Asn65Ser)
NM_023110.3(FGFR1):c.1954G>A (p.Asp652Asn)
NM_023110.3(FGFR1):c.1962dup (p.Lys655Ter)
NM_023110.3(FGFR1):c.1969dup (p.Thr657fs)
NM_023110.3(FGFR1):c.1977+12C>G
NM_023110.3(FGFR1):c.1977+15G>A
NM_023110.3(FGFR1):c.1977+19G>A
NM_023110.3(FGFR1):c.1977+1G>A rs876661334
NM_023110.3(FGFR1):c.1977+1G>T
NM_023110.3(FGFR1):c.1977+20C>T
NM_023110.3(FGFR1):c.1977C>T (p.Asn659=)
NM_023110.3(FGFR1):c.1978-15C>T
NM_023110.3(FGFR1):c.1978-17C>T
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter) rs776264072
NM_023110.3(FGFR1):c.1982G>A (p.Arg661Gln) rs1257312391
NM_023110.3(FGFR1):c.1988C>G (p.Pro663Arg)
NM_023110.3(FGFR1):c.1997G>A (p.Trp666Ter)
NM_023110.3(FGFR1):c.2008G>A (p.Glu670Lys) rs397515446
NM_023110.3(FGFR1):c.2011G>C (p.Ala671Pro)
NM_023110.3(FGFR1):c.2016A>T (p.Leu672Phe)
NM_023110.3(FGFR1):c.2024G>A (p.Arg675Gln)
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro) rs771078736
NM_023110.3(FGFR1):c.2026A>T (p.Ile676Phe) rs2150549553
NM_023110.3(FGFR1):c.2036del (p.His679fs)
NM_023110.3(FGFR1):c.2038C>T (p.Gln680Ter) rs121909636
NM_023110.3(FGFR1):c.2046T>C (p.Asp682=)
NM_023110.3(FGFR1):c.2048+13T>C
NM_023110.3(FGFR1):c.2048T>G (p.Val683Gly)
NM_023110.3(FGFR1):c.2049-1G>A
NM_023110.3(FGFR1):c.2051G>C (p.Trp684Ser)
NM_023110.3(FGFR1):c.2054C>G (p.Ser685Cys)
NM_023110.3(FGFR1):c.2057T>C (p.Phe686Ser)
NM_023110.3(FGFR1):c.2058del (p.Phe686fs)
NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg) rs727505376
NM_023110.3(FGFR1):c.2059G>C (p.Gly687Arg) rs727505376
NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)
NM_023110.3(FGFR1):c.2061G>C (p.Gly687=)
NM_023110.3(FGFR1):c.2062G>T (p.Val688Leu)
NM_023110.3(FGFR1):c.2075A>G (p.Glu692Gly) rs397515445
NM_023110.3(FGFR1):c.207C>T (p.Asp69=)
NM_023110.3(FGFR1):c.2084C>T (p.Thr695Ile) rs515726225
NM_023110.3(FGFR1):c.2086C>T (p.Leu696=)
NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg)
NM_023110.3(FGFR1):c.2099C>T (p.Pro700Leu)
NM_023110.3(FGFR1):c.2102A>G (p.Tyr701Cys)
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser)
NM_023110.3(FGFR1):c.2107G>C (p.Gly703Arg) rs768957161
NM_023110.3(FGFR1):c.211G>A (p.Val71Met) rs561300213
NM_023110.3(FGFR1):c.2122G>T (p.Glu708Ter) rs2150533516
NM_023110.3(FGFR1):c.2138T>C (p.Leu713Pro) rs1815455535
NM_023110.3(FGFR1):c.2146G>T (p.Gly716Cys)
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.3(FGFR1):c.2152C>T (p.Arg718Cys)
NM_023110.3(FGFR1):c.2163G>A (p.Lys721=)
NM_023110.3(FGFR1):c.2165C>A (p.Pro722His) rs267606805
NM_023110.3(FGFR1):c.2168G>A (p.Ser723Asn)
NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys) rs267606806
NM_023110.3(FGFR1):c.2182G>A (p.Glu728Lys)
NM_023110.3(FGFR1):c.2186+11G>A
NM_023110.3(FGFR1):c.2186+12_2186+14del rs1218085532
NM_023110.3(FGFR1):c.2186+20G>A
NM_023110.3(FGFR1):c.2186+9G>A
NM_023110.3(FGFR1):c.2187-13A>G
NM_023110.3(FGFR1):c.2187-15A>G
NM_023110.3(FGFR1):c.2187-18C>G rs2150525040
NM_023110.3(FGFR1):c.2187-19C>A rs376583717
NM_023110.3(FGFR1):c.2187-19C>T rs376583717
NM_023110.3(FGFR1):c.2187-4G>A
NM_023110.3(FGFR1):c.2190_2191dup (p.Met731fs)
NM_023110.3(FGFR1):c.2206T>C (p.Cys736Arg) rs1554546677
NM_023110.3(FGFR1):c.2209T>C (p.Trp737Arg) rs727505377
NM_023110.3(FGFR1):c.221C>T (p.Ala74Val)
NM_023110.3(FGFR1):c.222G>A (p.Ala74=)
NM_023110.3(FGFR1):c.222G>C (p.Ala74=) rs748896706
NM_023110.3(FGFR1):c.2231G>T (p.Arg744Ile)
NM_023110.3(FGFR1):c.2233C>T (p.Pro745Ser)
NM_023110.3(FGFR1):c.2234C>T (p.Pro745Leu)
NM_023110.3(FGFR1):c.2235_2238dup (p.Phe747fs)
NM_023110.3(FGFR1):c.2241C>A (p.Phe747Leu)
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met) rs2150520798
NM_023110.3(FGFR1):c.2251G>C (p.Val751Leu)
NM_023110.3(FGFR1):c.2259C>T (p.Asp753=)
NM_023110.3(FGFR1):c.2263G>C (p.Asp755His)
NM_023110.3(FGFR1):c.2266C>T (p.Arg756Cys)
NM_023110.3(FGFR1):c.228C>T (p.Ser76=)
NM_023110.3(FGFR1):c.2292+12C>T
NM_023110.3(FGFR1):c.2292+13G>A
NM_023110.3(FGFR1):c.2292+9G>A rs2150517873
NM_023110.3(FGFR1):c.2292G>T (p.Gln764His) rs121909643
NM_023110.3(FGFR1):c.2293-12C>G
NM_023110.3(FGFR1):c.2293-12C>T
NM_023110.3(FGFR1):c.2293-1G>T
NM_023110.3(FGFR1):c.2302G>A (p.Asp768Asn)
NM_023110.3(FGFR1):c.2302G>C (p.Asp768His) rs121909644
NM_023110.3(FGFR1):c.2302G>T (p.Asp768Tyr) rs121909644
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu) rs1232665126
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.3(FGFR1):c.2344G>A (p.Asp782Asn)
NM_023110.3(FGFR1):c.2348C>T (p.Thr783Ile)
NM_023110.3(FGFR1):c.2356T>G (p.Ser786Ala)
NM_023110.3(FGFR1):c.2367C>T (p.Ser789=)
NM_023110.3(FGFR1):c.236C>A (p.Thr79Asn)
NM_023110.3(FGFR1):c.2370A>G (p.Ser790=)
NM_023110.3(FGFR1):c.2382C>T (p.Ser794=)
NM_023110.3(FGFR1):c.2383G>A (p.Val795Ile)
NM_023110.3(FGFR1):c.238C>T (p.Arg80Cys)
NM_023110.3(FGFR1):c.2393A>C (p.His798Pro) rs755160898
NM_023110.3(FGFR1):c.2394_2395del (p.His798fs)
NM_023110.3(FGFR1):c.239G>C (p.Arg80Pro)
NM_023110.3(FGFR1):c.2406C>T (p.Pro802=) rs573344794
NM_023110.3(FGFR1):c.2407G>A (p.Glu803Lys)
NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter)
NM_023110.3(FGFR1):c.2428C>A (p.His810Asn) rs759376422
NM_023110.3(FGFR1):c.2430C>T (p.His810=)
NM_023110.3(FGFR1):c.2432C>G (p.Pro811Arg)
NM_023110.3(FGFR1):c.2433A>T (p.Pro811=) rs770921947
NM_023110.3(FGFR1):c.245C>T (p.Thr82Ile)
NM_023110.3(FGFR1):c.2460dup (p.Arg821fs) rs1586083500
NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys)
NM_023110.3(FGFR1):c.2464C>A (p.Arg822Ser)
NM_023110.3(FGFR1):c.246_247del (p.Glu84fs)
NM_023110.3(FGFR1):c.256G>A (p.Val86Met) rs1404670039
NM_023110.3(FGFR1):c.262G>T (p.Val88Leu)
NM_023110.3(FGFR1):c.268G>T (p.Asp90Tyr)
NM_023110.3(FGFR1):c.275_289del (p.Val92_Ser96del) rs1586375906
NM_023110.3(FGFR1):c.279C>G (p.Pro93=) rs781034707
NM_023110.3(FGFR1):c.279_292dup (p.Leu98fs)
NM_023110.3(FGFR1):c.27C>T (p.Phe9=)
NM_023110.3(FGFR1):c.281C>A (p.Ala94Glu)
NM_023110.3(FGFR1):c.284A>G (p.Asp95Gly)
NM_023110.3(FGFR1):c.286T>C (p.Ser96Pro)
NM_023110.3(FGFR1):c.287C>G (p.Ser96Cys)
NM_023110.3(FGFR1):c.289G>A (p.Gly97Ser)
NM_023110.3(FGFR1):c.289G>C (p.Gly97Arg) rs1260404537
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_023110.3(FGFR1):c.292C>T (p.Leu98Phe)
NM_023110.3(FGFR1):c.295T>C (p.Tyr99His) rs1822219907
NM_023110.3(FGFR1):c.296A>G (p.Tyr99Cys) rs727505373
NM_023110.3(FGFR1):c.302G>T (p.Cys101Phe)
NM_023110.3(FGFR1):c.303C>T (p.Cys101=)
NM_023110.3(FGFR1):c.305T>G (p.Val102Gly)
NM_023110.3(FGFR1):c.311G>A (p.Ser104Asn)
NM_023110.3(FGFR1):c.316C>T (p.Pro106Ser)
NM_023110.3(FGFR1):c.317C>T (p.Pro106Leu)
NM_023110.3(FGFR1):c.321G>A (p.Ser107=)
NM_023110.3(FGFR1):c.330C>T (p.Asp110=)
NM_023110.3(FGFR1):c.335C>G (p.Thr112Ser)
NM_023110.3(FGFR1):c.338A>G (p.Tyr113Cys)
NM_023110.3(FGFR1):c.33T>C (p.Ala11=)
NM_023110.3(FGFR1):c.341T>C (p.Phe114Ser) rs2150955298
NM_023110.3(FGFR1):c.342C>T (p.Phe114=)
NM_023110.3(FGFR1):c.355dup (p.Ser119fs)
NM_023110.3(FGFR1):c.358+11A>G
NM_023110.3(FGFR1):c.358+18G>A rs375458309
NM_023110.3(FGFR1):c.358+19C>A
NM_023110.3(FGFR1):c.358+9C>A
NM_023110.3(FGFR1):c.359-15TTC[2] rs768778460
NM_023110.3(FGFR1):c.359-18C>T rs1177584027
NM_023110.3(FGFR1):c.359-5C>G
NM_023110.3(FGFR1):c.362C>T (p.Ala121Val)
NM_023110.3(FGFR1):c.363T>A (p.Ala121=)
NM_023110.3(FGFR1):c.371C>T (p.Ser124Phe)
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del) rs138489552
NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup) rs138489552
NM_023110.3(FGFR1):c.389A>T (p.Asp130Val) rs1161536828
NM_023110.3(FGFR1):c.397_399dup (p.Asp133_Ser134insAsp)
NM_023110.3(FGFR1):c.399C>A (p.Asp133Glu)
NM_023110.3(FGFR1):c.404C>T (p.Ser135Phe)
NM_023110.3(FGFR1):c.411G>A (p.Glu137=) rs1010621186
NM_023110.3(FGFR1):c.425A>T (p.Asp142Val)
NM_023110.3(FGFR1):c.42C>T (p.Val14=)
NM_023110.3(FGFR1):c.448+1G>A rs376416531
NM_023110.3(FGFR1):c.448+1G>C rs376416531
NM_023110.3(FGFR1):c.449-4dup
NM_023110.3(FGFR1):c.449-6G>A
NM_023110.3(FGFR1):c.454G>C (p.Ala152Pro) rs1033377277
NM_023110.3(FGFR1):c.471C>G (p.Ser157=) rs376497452
NM_023110.3(FGFR1):c.506C>T (p.Pro169Leu) rs1413642890
NM_023110.3(FGFR1):c.514A>T (p.Lys172Ter)
NM_023110.3(FGFR1):c.51A>G (p.Thr17=)
NM_023110.3(FGFR1):c.523A>G (p.Lys175Glu)
NM_023110.3(FGFR1):c.532T>C (p.Cys178Arg) rs2150914598
NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly)
NM_023110.3(FGFR1):c.551dup (p.Asn185fs)
NM_023110.3(FGFR1):c.557C>G (p.Pro186Arg) rs2150912609
NM_023110.3(FGFR1):c.564_565delinsTT (p.Arg189Cys)
NM_023110.3(FGFR1):c.565C>T (p.Arg189Cys) rs863223331
NM_023110.3(FGFR1):c.570G>A (p.Trp190Ter)
NM_023110.3(FGFR1):c.591C>A (p.Phe197Leu)
NM_023110.3(FGFR1):c.597T>C (p.Pro199=)
NM_023110.3(FGFR1):c.604A>G (p.Arg202Gly)
NM_023110.3(FGFR1):c.606A>T (p.Arg202Ser) rs2150910084
NM_023110.3(FGFR1):c.617A>G (p.Tyr206Cys)
NM_023110.3(FGFR1):c.619A>G (p.Lys207Glu)
NM_023110.3(FGFR1):c.621+14C>A
NM_023110.3(FGFR1):c.621+17G>A
NM_023110.3(FGFR1):c.621+18C>A
NM_023110.3(FGFR1):c.621+5G>A
NM_023110.3(FGFR1):c.622-2A>G rs2150866757
NM_023110.3(FGFR1):c.622-9del
NM_023110.3(FGFR1):c.625C>T (p.Arg209Cys) rs1554564353
NM_023110.3(FGFR1):c.625del (p.Arg209fs)
NM_023110.3(FGFR1):c.630T>A (p.Tyr210Ter)
NM_023110.3(FGFR1):c.630T>G (p.Tyr210Ter)
NM_023110.3(FGFR1):c.64A>G (p.Arg22Gly)
NM_023110.3(FGFR1):c.658G>C (p.Val220Leu)
NM_023110.3(FGFR1):c.662T>A (p.Val221Glu)
NM_023110.3(FGFR1):c.670G>C (p.Asp224His)
NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp) rs1246231808
NM_023110.3(FGFR1):c.682T>G (p.Tyr228Asp)
NM_023110.3(FGFR1):c.687C>T (p.Thr229=)
NM_023110.3(FGFR1):c.694G>A (p.Val232Met)
NM_023110.3(FGFR1):c.6G>A (p.Trp2Ter) rs1554594114
NM_023110.3(FGFR1):c.700A>G (p.Asn234Asp)
NM_023110.3(FGFR1):c.709G>A (p.Gly237Ser) rs121909635
NM_023110.3(FGFR1):c.70del (p.Ser24fs)
NM_023110.3(FGFR1):c.710G>A (p.Gly237Asp)
NM_023110.3(FGFR1):c.711C>T (p.Gly237=)
NM_023110.3(FGFR1):c.714C>T (p.Ser238=) rs1586315279
NM_023110.3(FGFR1):c.716T>C (p.Ile239Thr)
NM_023110.3(FGFR1):c.719A>G (p.Asn240Ser)
NM_023110.3(FGFR1):c.745+13del
NM_023110.3(FGFR1):c.745+1G>T
NM_023110.3(FGFR1):c.745+2T>A rs1586314855
NM_023110.3(FGFR1):c.746-13C>T
NM_023110.3(FGFR1):c.746-14C>G rs1171714073
NM_023110.3(FGFR1):c.746-14C>T
NM_023110.3(FGFR1):c.746-5C>G rs1820095016
NM_023110.3(FGFR1):c.748C>T (p.Arg250Trp) rs2150826896
NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln) rs121909645
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_023110.3(FGFR1):c.75G>C (p.Pro25=) rs17175757
NM_023110.3(FGFR1):c.760C>T (p.Arg254Trp)
NM_023110.3(FGFR1):c.761G>A (p.Arg254Gln)
NM_023110.3(FGFR1):c.764C>T (p.Pro255Leu)
NM_023110.3(FGFR1):c.77C>A (p.Thr26Asn) rs1833133571
NM_023110.3(FGFR1):c.780del (p.Leu261fs)
NM_023110.3(FGFR1):c.789C>T (p.Ala263=) rs780944776
NM_023110.3(FGFR1):c.790A>C (p.Asn264His) rs515726223
NM_023110.3(FGFR1):c.797C>T (p.Thr266Ile)
NM_023110.3(FGFR1):c.817G>A (p.Val273Met) rs1131691929
NM_023110.3(FGFR1):c.819G>C (p.Val273=) rs779056585
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly) rs727505369
NM_023110.3(FGFR1):c.823T>G (p.Phe275Val)
NM_023110.3(FGFR1):c.82C>T (p.Pro28Ser)
NM_023110.3(FGFR1):c.841A>G (p.Ser281Gly)
NM_023110.3(FGFR1):c.848C>G (p.Pro283Arg)
NM_023110.3(FGFR1):c.849G>A (p.Pro283=)
NM_023110.3(FGFR1):c.854C>G (p.Pro285Arg)
NM_023110.3(FGFR1):c.861C>T (p.Ile287=) rs1370490922
NM_023110.3(FGFR1):c.863A>T (p.Gln288Leu) rs2150818410
NM_023110.3(FGFR1):c.870A>G (p.Leu290=) rs751538019
NM_023110.3(FGFR1):c.877A>G (p.Ile293Val)
NM_023110.3(FGFR1):c.887A>G (p.Asn296Ser) rs1820048488
NM_023110.3(FGFR1):c.887A>T (p.Asn296Ile)
NM_023110.3(FGFR1):c.91+16G>C
NM_023110.3(FGFR1):c.91+19G>T
NM_023110.3(FGFR1):c.91+20C>T
NM_023110.3(FGFR1):c.92-13G>T
NM_023110.3(FGFR1):c.92-19G>A rs753723806
NM_023110.3(FGFR1):c.92-19G>C
NM_023110.3(FGFR1):c.92-1G>T
NM_023110.3(FGFR1):c.92-3C>T rs1822349929
NM_023110.3(FGFR1):c.92-6C>G
NM_023110.3(FGFR1):c.925C>T (p.Gln309Ter)
NM_023110.3(FGFR1):c.936+13C>T
NM_023110.3(FGFR1):c.936+7A>G
NM_023110.3(FGFR1):c.937-11G>T
NM_023110.3(FGFR1):c.937-17T>C
NM_023110.3(FGFR1):c.94_95dup (p.Gln32fs)
NM_023110.3(FGFR1):c.957C>G (p.Thr319=)
NM_023110.3(FGFR1):c.957C>T (p.Thr319=)
NM_023110.3(FGFR1):c.962_963del (p.Lys321fs) rs2150758220
NM_023110.3(FGFR1):c.979_983del (p.His327fs) rs2150757205
NM_023110.3(FGFR1):c.991G>T (p.Val331Phe)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.