UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.121515292G>A | CA378327366 | FGFR2 | c.1115C>T (p.Ala372Val) c.1112C>T (p.Ala371Val) c.-59C>T (n.-59C>T) n.460C>T c.767C>T (p.Ala256Val) c.404-11351C>T (n.404-11351C>T) n.3459C>T c.845C>T (p.Ala282Val) c.1118C>T (p.Ala373Val) c.848C>T (p.Ala283Val) c.770C>T (p.Ala257Val) c.939+4687C>T (n.939+4687C>T) c.776C>T (p.Ala259Val) n.321C>T c.428C>T (p.Ala143Val) c.*159C>T (n.*159C>T) n.1562C>T c.1172C>T (p.Ala391Val) c.1169C>T (p.Ala390Val) c.905C>T (p.Ala302Val) c.827C>T (p.Ala276Val) c.824C>T (p.Ala275Val) c.902C>T (p.Ala301Val) n.1548C>T | dbSNP gnomAD v4 COSMIC |
| 10 | g.121515292G>C | CA378327369 | FGFR2 | c.1115C>G (p.Ala372Gly) c.1112C>G (p.Ala371Gly) c.-59C>G (n.-59C>G) n.460C>G c.767C>G (p.Ala256Gly) c.404-11351C>G (n.404-11351C>G) n.3459C>G c.845C>G (p.Ala282Gly) c.1118C>G (p.Ala373Gly) c.848C>G (p.Ala283Gly) c.770C>G (p.Ala257Gly) c.939+4687C>G (n.939+4687C>G) c.776C>G (p.Ala259Gly) n.321C>G c.428C>G (p.Ala143Gly) c.*159C>G (n.*159C>G) n.1562C>G c.1172C>G (p.Ala391Gly) c.1169C>G (p.Ala390Gly) c.905C>G (p.Ala302Gly) c.827C>G (p.Ala276Gly) c.824C>G (p.Ala275Gly) c.902C>G (p.Ala301Gly) n.1548C>G | dbSNP |
| 10 | g.121515292G>T | CA378327372 | FGFR2 | c.1115C>A (p.Ala372Asp) c.1112C>A (p.Ala371Asp) c.-59C>A (n.-59C>A) n.460C>A c.767C>A (p.Ala256Asp) c.404-11351C>A (n.404-11351C>A) n.3459C>A c.845C>A (p.Ala282Asp) c.1118C>A (p.Ala373Asp) c.848C>A (p.Ala283Asp) c.770C>A (p.Ala257Asp) c.939+4687C>A (n.939+4687C>A) c.776C>A (p.Ala259Asp) n.321C>A c.428C>A (p.Ala143Asp) c.*159C>A (n.*159C>A) n.1562C>A c.1172C>A (p.Ala391Asp) c.1169C>A (p.Ala390Asp) c.905C>A (p.Ala302Asp) c.827C>A (p.Ala276Asp) c.824C>A (p.Ala275Asp) c.902C>A (p.Ala301Asp) n.1548C>A | |
| 10 | g.121515293C>A | CA378327375 | FGFR2 | c.1114G>T (p.Ala372Ser) c.1111G>T (p.Ala371Ser) c.-60G>T (n.-60G>T) n.459G>T c.766G>T (p.Ala256Ser) c.404-11352G>T (n.404-11352G>T) n.3458G>T c.844G>T (p.Ala282Ser) c.1117G>T (p.Ala373Ser) c.847G>T (p.Ala283Ser) c.769G>T (p.Ala257Ser) c.939+4686G>T (n.939+4686G>T) c.775G>T (p.Ala259Ser) n.320G>T c.427G>T (p.Ala143Ser) c.*158G>T (n.*158G>T) n.1561G>T c.1171G>T (p.Ala391Ser) c.1168G>T (p.Ala390Ser) c.904G>T (p.Ala302Ser) c.826G>T (p.Ala276Ser) c.823G>T (p.Ala275Ser) c.901G>T (p.Ala301Ser) n.1547G>T | dbSNP |
| 10 | g.121515293C>G | CA378327377 | FGFR2 | c.1114G>C (p.Ala372Pro) c.1111G>C (p.Ala371Pro) c.-60G>C (n.-60G>C) n.459G>C c.766G>C (p.Ala256Pro) c.404-11352G>C (n.404-11352G>C) n.3458G>C c.844G>C (p.Ala282Pro) c.1117G>C (p.Ala373Pro) c.847G>C (p.Ala283Pro) c.769G>C (p.Ala257Pro) c.939+4686G>C (n.939+4686G>C) c.775G>C (p.Ala259Pro) n.320G>C c.427G>C (p.Ala143Pro) c.*158G>C (n.*158G>C) n.1561G>C c.1171G>C (p.Ala391Pro) c.1168G>C (p.Ala390Pro) c.904G>C (p.Ala302Pro) c.826G>C (p.Ala276Pro) c.823G>C (p.Ala275Pro) c.901G>C (p.Ala301Pro) n.1547G>C | dbSNP |
| 10 | g.121515293C>T | CA378327378 | FGFR2 | c.1114G>A (p.Ala372Thr) c.1111G>A (p.Ala371Thr) c.-60G>A (n.-60G>A) n.459G>A c.766G>A (p.Ala256Thr) c.404-11352G>A (n.404-11352G>A) n.3458G>A c.844G>A (p.Ala282Thr) c.1117G>A (p.Ala373Thr) c.847G>A (p.Ala283Thr) c.769G>A (p.Ala257Thr) c.939+4686G>A (n.939+4686G>A) c.775G>A (p.Ala259Thr) n.320G>A c.427G>A (p.Ala143Thr) c.*158G>A (n.*158G>A) n.1561G>A c.1171G>A (p.Ala391Thr) c.1168G>A (p.Ala390Thr) c.904G>A (p.Ala302Thr) c.826G>A (p.Ala276Thr) c.823G>A (p.Ala275Thr) c.901G>A (p.Ala301Thr) n.1547G>A | dbSNP |
| 10 | g.121515294T>A | CA471652499 | FGFR2 | c.1113A>T (p.Thr371=) c.1110A>T (p.Thr370=) c.-61A>T (n.-61A>T) n.458A>T c.765A>T (p.Thr255=) c.404-11353A>T (n.404-11353A>T) n.3457A>T c.843A>T (p.Thr281=) c.1116A>T (p.Thr372=) c.846A>T (p.Thr282=) c.768A>T (p.Thr256=) c.939+4685A>T (n.939+4685A>T) c.774A>T (p.Thr258=) n.319A>T c.426A>T (p.Thr142=) c.*157A>T (n.*157A>T) n.1560A>T c.1170A>T (p.Thr390=) c.1167A>T (p.Thr389=) c.903A>T (p.Thr301=) c.825A>T (p.Thr275=) c.822A>T (p.Thr274=) c.900A>T (p.Thr300=) n.1546A>T | dbSNP |
| 10 | g.121515294T>C | CA5720836 | FGFR2 | c.1113A>G (p.Thr371=) c.1110A>G (p.Thr370=) c.-61A>G (n.-61A>G) n.458A>G c.765A>G (p.Thr255=) c.404-11353A>G (n.404-11353A>G) n.3457A>G c.843A>G (p.Thr281=) c.1116A>G (p.Thr372=) c.846A>G (p.Thr282=) c.768A>G (p.Thr256=) c.939+4685A>G (n.939+4685A>G) c.774A>G (p.Thr258=) n.319A>G c.426A>G (p.Thr142=) c.*157A>G (n.*157A>G) n.1560A>G c.1170A>G (p.Thr390=) c.1167A>G (p.Thr389=) c.903A>G (p.Thr301=) c.825A>G (p.Thr275=) c.822A>G (p.Thr274=) c.900A>G (p.Thr300=) n.1546A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.121515294T>G | CA471652503 | FGFR2 | c.1113A>C (p.Thr371=) c.1110A>C (p.Thr370=) c.-61A>C (n.-61A>C) n.458A>C c.765A>C (p.Thr255=) c.404-11353A>C (n.404-11353A>C) n.3457A>C c.843A>C (p.Thr281=) c.1116A>C (p.Thr372=) c.846A>C (p.Thr282=) c.768A>C (p.Thr256=) c.939+4685A>C (n.939+4685A>C) c.774A>C (p.Thr258=) n.319A>C c.426A>C (p.Thr142=) c.*157A>C (n.*157A>C) n.1560A>C c.1170A>C (p.Thr390=) c.1167A>C (p.Thr389=) c.903A>C (p.Thr301=) c.825A>C (p.Thr275=) c.822A>C (p.Thr274=) c.900A>C (p.Thr300=) n.1546A>C | dbSNP |
| 10 | g.121515294T= | CA1941023740 | FGFR2 | c.1113A= (p.Thr371=) c.1110A= (p.Thr370=) c.-61A= (n.-61A=) n.458A= c.765A= (p.Thr255=) c.404-11353A= (n.404-11353A=) n.3457A= c.843A= (p.Thr281=) c.1116A= (p.Thr372=) c.846A= (p.Thr282=) c.768A= (p.Thr256=) c.939+4685A= (n.939+4685A=) c.774A= (p.Thr258=) n.319A= c.426A= (p.Thr142=) c.*157A= (n.*157A=) n.1560A= c.1170A= (p.Thr390=) c.1167A= (p.Thr389=) c.903A= (p.Thr301=) c.825A= (p.Thr275=) c.822A= (p.Thr274=) c.900A= (p.Thr300=) n.1546A= | |
| 10 | g.121515295G>A | CA378327383 | FGFR2 | c.1112C>T (p.Thr371Ile) c.1109C>T (p.Thr370Ile) c.-62C>T (n.-62C>T) n.457C>T c.764C>T (p.Thr255Ile) c.404-11354C>T (n.404-11354C>T) n.3456C>T c.842C>T (p.Thr281Ile) c.1115C>T (p.Thr372Ile) c.845C>T (p.Thr282Ile) c.767C>T (p.Thr256Ile) c.939+4684C>T (n.939+4684C>T) c.773C>T (p.Thr258Ile) n.318C>T c.425C>T (p.Thr142Ile) c.*156C>T (n.*156C>T) n.1559C>T c.1169C>T (p.Thr390Ile) c.1166C>T (p.Thr389Ile) c.902C>T (p.Thr301Ile) c.824C>T (p.Thr275Ile) c.821C>T (p.Thr274Ile) c.899C>T (p.Thr300Ile) n.1545C>T | dbSNP |
| 10 | g.121515295G>C | CA378327385 | FGFR2 | c.1112C>G (p.Thr371Arg) c.1109C>G (p.Thr370Arg) c.-62C>G (n.-62C>G) n.457C>G c.764C>G (p.Thr255Arg) c.404-11354C>G (n.404-11354C>G) n.3456C>G c.842C>G (p.Thr281Arg) c.1115C>G (p.Thr372Arg) c.845C>G (p.Thr282Arg) c.767C>G (p.Thr256Arg) c.939+4684C>G (n.939+4684C>G) c.773C>G (p.Thr258Arg) n.318C>G c.425C>G (p.Thr142Arg) c.*156C>G (n.*156C>G) n.1559C>G c.1169C>G (p.Thr390Arg) c.1166C>G (p.Thr389Arg) c.902C>G (p.Thr301Arg) c.824C>G (p.Thr275Arg) c.821C>G (p.Thr274Arg) c.899C>G (p.Thr300Arg) n.1545C>G | dbSNP gnomAD v4 COSMIC |
| 10 | g.121515295G= | CA1941023741 | FGFR2 | c.1112C= (p.Thr371=) c.1109C= (p.Thr370=) c.-62C= (n.-62C=) n.457C= c.764C= (p.Thr255=) c.404-11354C= (n.404-11354C=) n.3456C= c.842C= (p.Thr281=) c.1115C= (p.Thr372=) c.845C= (p.Thr282=) c.767C= (p.Thr256=) c.939+4684C= (n.939+4684C=) c.773C= (p.Thr258=) n.318C= c.425C= (p.Thr142=) c.*156C= (n.*156C=) n.1559C= c.1169C= (p.Thr390=) c.1166C= (p.Thr389=) c.902C= (p.Thr301=) c.824C= (p.Thr275=) c.821C= (p.Thr274=) c.899C= (p.Thr300=) n.1545C= | |
| 10 | g.121515295G>T | CA378327388 | FGFR2 | c.1112C>A (p.Thr371Lys) c.1109C>A (p.Thr370Lys) c.-62C>A (n.-62C>A) n.457C>A c.764C>A (p.Thr255Lys) c.404-11354C>A (n.404-11354C>A) n.3456C>A c.842C>A (p.Thr281Lys) c.1115C>A (p.Thr372Lys) c.845C>A (p.Thr282Lys) c.767C>A (p.Thr256Lys) c.939+4684C>A (n.939+4684C>A) c.773C>A (p.Thr258Lys) n.318C>A c.425C>A (p.Thr142Lys) c.*156C>A (n.*156C>A) n.1559C>A c.1169C>A (p.Thr390Lys) c.1166C>A (p.Thr389Lys) c.902C>A (p.Thr301Lys) c.824C>A (p.Thr275Lys) c.821C>A (p.Thr274Lys) c.899C>A (p.Thr300Lys) n.1545C>A | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 10 | g.121515296T>A | CA378327390 | FGFR2 | c.1111A>T (p.Thr371Ser) c.1108A>T (p.Thr370Ser) c.-63A>T (n.-63A>T) n.456A>T c.763A>T (p.Thr255Ser) c.404-11355A>T (n.404-11355A>T) n.3455A>T c.841A>T (p.Thr281Ser) c.1114A>T (p.Thr372Ser) c.844A>T (p.Thr282Ser) c.766A>T (p.Thr256Ser) c.939+4683A>T (n.939+4683A>T) c.772A>T (p.Thr258Ser) n.317A>T c.424A>T (p.Thr142Ser) c.*155A>T (n.*155A>T) n.1558A>T c.1168A>T (p.Thr390Ser) c.1165A>T (p.Thr389Ser) c.901A>T (p.Thr301Ser) c.823A>T (p.Thr275Ser) c.820A>T (p.Thr274Ser) c.898A>T (p.Thr300Ser) n.1544A>T | dbSNP |
| 10 | g.121515296T>C | CA378327392 | FGFR2 | c.1111A>G (p.Thr371Ala) c.1108A>G (p.Thr370Ala) c.-63A>G (n.-63A>G) n.456A>G c.763A>G (p.Thr255Ala) c.404-11355A>G (n.404-11355A>G) n.3455A>G c.841A>G (p.Thr281Ala) c.1114A>G (p.Thr372Ala) c.844A>G (p.Thr282Ala) c.766A>G (p.Thr256Ala) c.939+4683A>G (n.939+4683A>G) c.772A>G (p.Thr258Ala) n.317A>G c.424A>G (p.Thr142Ala) c.*155A>G (n.*155A>G) n.1558A>G c.1168A>G (p.Thr390Ala) c.1165A>G (p.Thr389Ala) c.901A>G (p.Thr301Ala) c.823A>G (p.Thr275Ala) c.820A>G (p.Thr274Ala) c.898A>G (p.Thr300Ala) n.1544A>G | |
| 10 | g.121515296T>G | CA378327393 | FGFR2 | c.1111A>C (p.Thr371Pro) c.1108A>C (p.Thr370Pro) c.-63A>C (n.-63A>C) n.456A>C c.763A>C (p.Thr255Pro) c.404-11355A>C (n.404-11355A>C) n.3455A>C c.841A>C (p.Thr281Pro) c.1114A>C (p.Thr372Pro) c.844A>C (p.Thr282Pro) c.766A>C (p.Thr256Pro) c.939+4683A>C (n.939+4683A>C) c.772A>C (p.Thr258Pro) n.317A>C c.424A>C (p.Thr142Pro) c.*155A>C (n.*155A>C) n.1558A>C c.1168A>C (p.Thr390Pro) c.1165A>C (p.Thr389Pro) c.901A>C (p.Thr301Pro) c.823A>C (p.Thr275Pro) c.820A>C (p.Thr274Pro) c.898A>C (p.Thr300Pro) n.1544A>C | dbSNP |
| 10 | g.121515296_121515297insGGGA | CA2572575774 | FGFR2 | c.1110_1111insTCCC (p.Thr371SerfsTer?) c.1107_1108insTCCC (p.Thr370SerfsTer?) c.-64_-63insTCCC (n.-64_-63insTCCC) n.455_456insTCCC c.762_763insTCCC (p.Thr255SerfsTer?) c.404-11356_404-11355insTCCC (n.404-11356_404-11355insTCCC) n.3454_3455insTCCC c.840_841insTCCC (p.Thr281SerfsTer?) c.1113_1114insTCCC (p.Thr372SerfsTer?) c.843_844insTCCC (p.Thr282SerfsTer?) c.765_766insTCCC (p.Thr256SerfsTer?) c.939+4682_939+4683insTCCC (n.939+4682_939+4683insTCCC) c.771_772insTCCC (p.Thr258SerfsTer?) n.316_317insTCCC c.423_424insTCCC (p.Thr142SerfsTer?) c.*154_*155insTCCC (n.*154_*155insTCCC) n.1557_1558insTCCC c.1167_1168insTCCC (p.Thr390SerfsTer?) c.1164_1165insTCCC (p.Thr389SerfsTer?) c.900_901insTCCC (p.Thr301SerfsTer?) c.822_823insTCCC (p.Thr275SerfsTer?) c.819_820insTCCC (p.Thr274SerfsTer?) c.897_898insTCCC (p.Thr300SerfsTer?) n.1543_1544insTCCC | |
| 10 | g.121515297A>C | CA378327396 | FGFR2 | c.1110T>G (p.Ile370Met) c.1107T>G (p.Ile369Met) c.-64T>G (n.-64T>G) n.455T>G c.762T>G (p.Ile254Met) c.404-11356T>G (n.404-11356T>G) n.3454T>G c.840T>G (p.Ile280Met) c.1113T>G (p.Ile371Met) c.843T>G (p.Ile281Met) c.765T>G (p.Ile255Met) c.939+4682T>G (n.939+4682T>G) c.771T>G (p.Ile257Met) n.316T>G c.423T>G (p.Ile141Met) c.*154T>G (n.*154T>G) n.1557T>G c.1167T>G (p.Ile389Met) c.1164T>G (p.Ile388Met) c.900T>G (p.Ile300Met) c.822T>G (p.Ile274Met) c.819T>G (p.Ile273Met) c.897T>G (p.Ile299Met) n.1543T>G | dbSNP gnomAD v4 |
| 10 | g.121515297A>G | CA471652524 | FGFR2 | c.1110T>C (p.Ile370=) c.1107T>C (p.Ile369=) c.-64T>C (n.-64T>C) n.455T>C c.762T>C (p.Ile254=) c.404-11356T>C (n.404-11356T>C) n.3454T>C c.840T>C (p.Ile280=) c.1113T>C (p.Ile371=) c.843T>C (p.Ile281=) c.765T>C (p.Ile255=) c.939+4682T>C (n.939+4682T>C) c.771T>C (p.Ile257=) n.316T>C c.423T>C (p.Ile141=) c.*154T>C (n.*154T>C) n.1557T>C c.1167T>C (p.Ile389=) c.1164T>C (p.Ile388=) c.900T>C (p.Ile300=) c.822T>C (p.Ile274=) c.819T>C (p.Ile273=) c.897T>C (p.Ile299=) n.1543T>C | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 10 | g.121515297A>T | CA471652527 | FGFR2 | c.1110T>A (p.Ile370=) c.1107T>A (p.Ile369=) c.-64T>A (n.-64T>A) n.455T>A c.762T>A (p.Ile254=) c.404-11356T>A (n.404-11356T>A) n.3454T>A c.840T>A (p.Ile280=) c.1113T>A (p.Ile371=) c.843T>A (p.Ile281=) c.765T>A (p.Ile255=) c.939+4682T>A (n.939+4682T>A) c.771T>A (p.Ile257=) n.316T>A c.423T>A (p.Ile141=) c.*154T>A (n.*154T>A) n.1557T>A c.1167T>A (p.Ile389=) c.1164T>A (p.Ile388=) c.900T>A (p.Ile300=) c.822T>A (p.Ile274=) c.819T>A (p.Ile273=) c.897T>A (p.Ile299=) n.1543T>A | dbSNP |
| 10 | g.121515298A>C | CA378327400 | FGFR2 | c.1109T>G (p.Ile370Ser) c.1106T>G (p.Ile369Ser) c.-65T>G (n.-65T>G) n.454T>G c.761T>G (p.Ile254Ser) c.404-11357T>G (n.404-11357T>G) n.3453T>G c.839T>G (p.Ile280Ser) c.1112T>G (p.Ile371Ser) c.842T>G (p.Ile281Ser) c.764T>G (p.Ile255Ser) c.939+4681T>G (n.939+4681T>G) c.770T>G (p.Ile257Ser) n.315T>G c.422T>G (p.Ile141Ser) c.*153T>G (n.*153T>G) n.1556T>G c.1166T>G (p.Ile389Ser) c.1163T>G (p.Ile388Ser) c.899T>G (p.Ile300Ser) c.821T>G (p.Ile274Ser) c.818T>G (p.Ile273Ser) c.896T>G (p.Ile299Ser) n.1542T>G | dbSNP |
| 10 | g.121515298A>G | CA378327402 | FGFR2 | c.1109T>C (p.Ile370Thr) c.1106T>C (p.Ile369Thr) c.-65T>C (n.-65T>C) n.454T>C c.761T>C (p.Ile254Thr) c.404-11357T>C (n.404-11357T>C) n.3453T>C c.839T>C (p.Ile280Thr) c.1112T>C (p.Ile371Thr) c.842T>C (p.Ile281Thr) c.764T>C (p.Ile255Thr) c.939+4681T>C (n.939+4681T>C) c.770T>C (p.Ile257Thr) n.315T>C c.422T>C (p.Ile141Thr) c.*153T>C (n.*153T>C) n.1556T>C c.1166T>C (p.Ile389Thr) c.1163T>C (p.Ile388Thr) c.899T>C (p.Ile300Thr) c.821T>C (p.Ile274Thr) c.818T>C (p.Ile273Thr) c.896T>C (p.Ile299Thr) n.1542T>C | |
| 10 | g.121515298A>T | CA378327404 | FGFR2 | c.1109T>A (p.Ile370Asn) c.1106T>A (p.Ile369Asn) c.-65T>A (n.-65T>A) n.454T>A c.761T>A (p.Ile254Asn) c.404-11357T>A (n.404-11357T>A) n.3453T>A c.839T>A (p.Ile280Asn) c.1112T>A (p.Ile371Asn) c.842T>A (p.Ile281Asn) c.764T>A (p.Ile255Asn) c.939+4681T>A (n.939+4681T>A) c.770T>A (p.Ile257Asn) n.315T>A c.422T>A (p.Ile141Asn) c.*153T>A (n.*153T>A) n.1556T>A c.1166T>A (p.Ile389Asn) c.1163T>A (p.Ile388Asn) c.899T>A (p.Ile300Asn) c.821T>A (p.Ile274Asn) c.818T>A (p.Ile273Asn) c.896T>A (p.Ile299Asn) n.1542T>A | dbSNP |
| 10 | g.121515299T>A | CA378327407 | FGFR2 | c.1108A>T (p.Ile370Phe) c.1105A>T (p.Ile369Phe) c.-66A>T (n.-66A>T) n.453A>T c.760A>T (p.Ile254Phe) c.404-11358A>T (n.404-11358A>T) n.3452A>T c.838A>T (p.Ile280Phe) c.1111A>T (p.Ile371Phe) c.841A>T (p.Ile281Phe) c.763A>T (p.Ile255Phe) c.939+4680A>T (n.939+4680A>T) c.769A>T (p.Ile257Phe) n.314A>T c.421A>T (p.Ile141Phe) c.*152A>T (n.*152A>T) n.1555A>T c.1165A>T (p.Ile389Phe) c.1162A>T (p.Ile388Phe) c.898A>T (p.Ile300Phe) c.820A>T (p.Ile274Phe) c.817A>T (p.Ile273Phe) c.895A>T (p.Ile299Phe) n.1541A>T | dbSNP |
| 10 | g.121515299T>C | CA378327409 | FGFR2 | c.1108A>G (p.Ile370Val) c.1105A>G (p.Ile369Val) c.-66A>G (n.-66A>G) n.453A>G c.760A>G (p.Ile254Val) c.404-11358A>G (n.404-11358A>G) n.3452A>G c.838A>G (p.Ile280Val) c.1111A>G (p.Ile371Val) c.841A>G (p.Ile281Val) c.763A>G (p.Ile255Val) c.939+4680A>G (n.939+4680A>G) c.769A>G (p.Ile257Val) n.314A>G c.421A>G (p.Ile141Val) c.*152A>G (n.*152A>G) n.1555A>G c.1165A>G (p.Ile389Val) c.1162A>G (p.Ile388Val) c.898A>G (p.Ile300Val) c.820A>G (p.Ile274Val) c.817A>G (p.Ile273Val) c.895A>G (p.Ile299Val) n.1541A>G | gnomAD v4 |
| 10 | g.121515299T>G | CA378327412 | FGFR2 | c.1108A>C (p.Ile370Leu) c.1105A>C (p.Ile369Leu) c.-66A>C (n.-66A>C) n.453A>C c.760A>C (p.Ile254Leu) c.404-11358A>C (n.404-11358A>C) n.3452A>C c.838A>C (p.Ile280Leu) c.1111A>C (p.Ile371Leu) c.841A>C (p.Ile281Leu) c.763A>C (p.Ile255Leu) c.939+4680A>C (n.939+4680A>C) c.769A>C (p.Ile257Leu) n.314A>C c.421A>C (p.Ile141Leu) c.*152A>C (n.*152A>C) n.1555A>C c.1165A>C (p.Ile389Leu) c.1162A>C (p.Ile388Leu) c.898A>C (p.Ile300Leu) c.820A>C (p.Ile274Leu) c.817A>C (p.Ile273Leu) c.895A>C (p.Ile299Leu) n.1541A>C | dbSNP |
| 10 | g.121515300del | CA2509717514 | FGFR2 | c.1107del (p.Ile370LeufsTer10) c.1104del (p.Ile369LeufsTer10) c.-67del (n.-67del) n.452del c.759del (p.Ile254LeufsTer10) c.404-11359del (n.404-11359del) n.3451del c.837del (p.Ile280LeufsTer10) c.1110del (p.Ile371LeufsTer10) c.840del (p.Ile281LeufsTer10) c.762del (p.Ile255LeufsTer10) c.939+4679del (n.939+4679del) c.768del (p.Ile257LeufsTer10) n.313del c.420del (p.Ile141LeufsTer10) c.*151del (n.*151del) n.1554del c.1164del (p.Ile389LeufsTer10) c.1161del (p.Ile388LeufsTer10) c.897del (p.Ile300LeufsTer10) c.819del (p.Ile274LeufsTer10) c.816del (p.Ile273LeufsTer10) c.894del (p.Ile299LeufsTer10) n.1540del | |
| 10 | g.121515300C>A | CA378327418 | FGFR2 | c.1107G>T (p.Glu369Asp) c.1104G>T (p.Glu368Asp) c.-67G>T (n.-67G>T) n.452G>T c.759G>T (p.Glu253Asp) c.404-11359G>T (n.404-11359G>T) n.3451G>T c.837G>T (p.Glu279Asp) c.1110G>T (p.Glu370Asp) c.840G>T (p.Glu280Asp) c.762G>T (p.Glu254Asp) c.939+4679G>T (n.939+4679G>T) c.768G>T (p.Glu256Asp) n.313G>T c.420G>T (p.Glu140Asp) c.*151G>T (n.*151G>T) n.1554G>T c.1164G>T (p.Glu388Asp) c.1161G>T (p.Glu387Asp) c.897G>T (p.Glu299Asp) c.819G>T (p.Glu273Asp) c.816G>T (p.Glu272Asp) c.894G>T (p.Glu298Asp) n.1540G>T | |
| 10 | g.121515300C>G | CA378327415 | FGFR2 | c.1107G>C (p.Glu369Asp) c.1104G>C (p.Glu368Asp) c.-67G>C (n.-67G>C) n.452G>C c.759G>C (p.Glu253Asp) c.404-11359G>C (n.404-11359G>C) n.3451G>C c.837G>C (p.Glu279Asp) c.1110G>C (p.Glu370Asp) c.840G>C (p.Glu280Asp) c.762G>C (p.Glu254Asp) c.939+4679G>C (n.939+4679G>C) c.768G>C (p.Glu256Asp) n.313G>C c.420G>C (p.Glu140Asp) c.*151G>C (n.*151G>C) n.1554G>C c.1164G>C (p.Glu388Asp) c.1161G>C (p.Glu387Asp) c.897G>C (p.Glu299Asp) c.819G>C (p.Glu273Asp) c.816G>C (p.Glu272Asp) c.894G>C (p.Glu298Asp) n.1540G>C | |
| 10 | g.121515300C>T | CA471652546 | FGFR2 | c.1107G>A (p.Glu369=) c.1104G>A (p.Glu368=) c.-67G>A (n.-67G>A) n.452G>A c.759G>A (p.Glu253=) c.404-11359G>A (n.404-11359G>A) n.3451G>A c.837G>A (p.Glu279=) c.1110G>A (p.Glu370=) c.840G>A (p.Glu280=) c.762G>A (p.Glu254=) c.939+4679G>A (n.939+4679G>A) c.768G>A (p.Glu256=) n.313G>A c.420G>A (p.Glu140=) c.*151G>A (n.*151G>A) n.1554G>A c.1164G>A (p.Glu388=) c.1161G>A (p.Glu387=) c.897G>A (p.Glu299=) c.819G>A (p.Glu273=) c.816G>A (p.Glu272=) c.894G>A (p.Glu298=) n.1540G>A | |
| 10 | g.121515301T>A | CA214305542 | FGFR2 | c.1106A>T (p.Glu369Val) c.1103A>T (p.Glu368Val) c.-68A>T (n.-68A>T) n.451A>T c.758A>T (p.Glu253Val) c.404-11360A>T (n.404-11360A>T) n.3450A>T c.836A>T (p.Glu279Val) c.1109A>T (p.Glu370Val) c.839A>T (p.Glu280Val) c.761A>T (p.Glu254Val) c.939+4678A>T (n.939+4678A>T) c.767A>T (p.Glu256Val) n.312A>T c.419A>T (p.Glu140Val) c.*150A>T (n.*150A>T) n.1553A>T c.1163A>T (p.Glu388Val) c.1160A>T (p.Glu387Val) c.896A>T (p.Glu299Val) c.818A>T (p.Glu273Val) c.815A>T (p.Glu272Val) c.893A>T (p.Glu298Val) n.1539A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.121515301T>C | CA378327423 | FGFR2 | c.1106A>G (p.Glu369Gly) c.1103A>G (p.Glu368Gly) c.-68A>G (n.-68A>G) n.451A>G c.758A>G (p.Glu253Gly) c.404-11360A>G (n.404-11360A>G) n.3450A>G c.836A>G (p.Glu279Gly) c.1109A>G (p.Glu370Gly) c.839A>G (p.Glu280Gly) c.761A>G (p.Glu254Gly) c.939+4678A>G (n.939+4678A>G) c.767A>G (p.Glu256Gly) n.312A>G c.419A>G (p.Glu140Gly) c.*150A>G (n.*150A>G) n.1553A>G c.1163A>G (p.Glu388Gly) c.1160A>G (p.Glu387Gly) c.896A>G (p.Glu299Gly) c.818A>G (p.Glu273Gly) c.815A>G (p.Glu272Gly) c.893A>G (p.Glu298Gly) n.1539A>G | dbSNP |
| 10 | g.121515301T>G | CA378327425 | FGFR2 | c.1106A>C (p.Glu369Ala) c.1103A>C (p.Glu368Ala) c.-68A>C (n.-68A>C) n.451A>C c.758A>C (p.Glu253Ala) c.404-11360A>C (n.404-11360A>C) n.3450A>C c.836A>C (p.Glu279Ala) c.1109A>C (p.Glu370Ala) c.839A>C (p.Glu280Ala) c.761A>C (p.Glu254Ala) c.939+4678A>C (n.939+4678A>C) c.767A>C (p.Glu256Ala) n.312A>C c.419A>C (p.Glu140Ala) c.*150A>C (n.*150A>C) n.1553A>C c.1163A>C (p.Glu388Ala) c.1160A>C (p.Glu387Ala) c.896A>C (p.Glu299Ala) c.818A>C (p.Glu273Ala) c.815A>C (p.Glu272Ala) c.893A>C (p.Glu298Ala) n.1539A>C | |
| 10 | g.121515301T= | CA1941023742 | FGFR2 | c.1106A= (p.Glu369=) c.1103A= (p.Glu368=) c.-68A= (n.-68A=) n.451A= c.758A= (p.Glu253=) c.404-11360A= (n.404-11360A=) n.3450A= c.836A= (p.Glu279=) c.1109A= (p.Glu370=) c.839A= (p.Glu280=) c.761A= (p.Glu254=) c.939+4678A= (n.939+4678A=) c.767A= (p.Glu256=) n.312A= c.419A= (p.Glu140=) c.*150A= (n.*150A=) n.1553A= c.1163A= (p.Glu388=) c.1160A= (p.Glu387=) c.896A= (p.Glu299=) c.818A= (p.Glu273=) c.815A= (p.Glu272=) c.893A= (p.Glu298=) n.1539A= | |
| 10 | g.121515302C>A | CA378327428 | FGFR2 | c.1105G>T (p.Glu369Ter) c.1102G>T (p.Glu368Ter) c.-69G>T (n.-69G>T) n.450G>T c.757G>T (p.Glu253Ter) c.404-11361G>T (n.404-11361G>T) n.3449G>T c.835G>T (p.Glu279Ter) c.1108G>T (p.Glu370Ter) c.838G>T (p.Glu280Ter) c.760G>T (p.Glu254Ter) c.939+4677G>T (n.939+4677G>T) c.766G>T (p.Glu256Ter) n.311G>T c.418G>T (p.Glu140Ter) c.*149G>T (n.*149G>T) n.1552G>T c.1162G>T (p.Glu388Ter) c.1159G>T (p.Glu387Ter) c.895G>T (p.Glu299Ter) c.817G>T (p.Glu273Ter) c.814G>T (p.Glu272Ter) c.892G>T (p.Glu298Ter) n.1538G>T | dbSNP |
| 10 | g.121515302C= | CA1941023743 | FGFR2 | c.1105G= (p.Glu369=) c.1102G= (p.Glu368=) c.-69G= (n.-69G=) n.450G= c.757G= (p.Glu253=) c.404-11361G= (n.404-11361G=) n.3449G= c.835G= (p.Glu279=) c.1108G= (p.Glu370=) c.838G= (p.Glu280=) c.760G= (p.Glu254=) c.939+4677G= (n.939+4677G=) c.766G= (p.Glu256=) n.311G= c.418G= (p.Glu140=) c.*149G= (n.*149G=) n.1552G= c.1162G= (p.Glu388=) c.1159G= (p.Glu387=) c.895G= (p.Glu299=) c.817G= (p.Glu273=) c.814G= (p.Glu272=) c.892G= (p.Glu298=) n.1538G= | |
| 10 | g.121515302C>G | CA378327430 | FGFR2 | c.1105G>C (p.Glu369Gln) c.1102G>C (p.Glu368Gln) c.-69G>C (n.-69G>C) n.450G>C c.757G>C (p.Glu253Gln) c.404-11361G>C (n.404-11361G>C) n.3449G>C c.835G>C (p.Glu279Gln) c.1108G>C (p.Glu370Gln) c.838G>C (p.Glu280Gln) c.760G>C (p.Glu254Gln) c.939+4677G>C (n.939+4677G>C) c.766G>C (p.Glu256Gln) n.311G>C c.418G>C (p.Glu140Gln) c.*149G>C (n.*149G>C) n.1552G>C c.1162G>C (p.Glu388Gln) c.1159G>C (p.Glu387Gln) c.895G>C (p.Glu299Gln) c.817G>C (p.Glu273Gln) c.814G>C (p.Glu272Gln) c.892G>C (p.Glu298Gln) n.1538G>C | dbSNP |
| 10 | g.121515302C>T | CA378327432 | FGFR2 | c.1105G>A (p.Glu369Lys) c.1102G>A (p.Glu368Lys) c.-69G>A (n.-69G>A) n.450G>A c.757G>A (p.Glu253Lys) c.404-11361G>A (n.404-11361G>A) n.3449G>A c.835G>A (p.Glu279Lys) c.1108G>A (p.Glu370Lys) c.838G>A (p.Glu280Lys) c.760G>A (p.Glu254Lys) c.939+4677G>A (n.939+4677G>A) c.766G>A (p.Glu256Lys) n.311G>A c.418G>A (p.Glu140Lys) c.*149G>A (n.*149G>A) n.1552G>A c.1162G>A (p.Glu388Lys) c.1159G>A (p.Glu387Lys) c.895G>A (p.Glu299Lys) c.817G>A (p.Glu273Lys) c.814G>A (p.Glu272Lys) c.892G>A (p.Glu298Lys) n.1538G>A | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.121515303C>A | CA378327435 | FGFR2 | c.1104G>T (p.Lys368Asn) c.1101G>T (p.Lys367Asn) c.-70G>T (n.-70G>T) n.449G>T c.756G>T (p.Lys252Asn) c.404-11362G>T (n.404-11362G>T) n.3448G>T c.834G>T (p.Lys278Asn) c.1107G>T (p.Lys369Asn) c.837G>T (p.Lys279Asn) c.759G>T (p.Lys253Asn) c.939+4676G>T (n.939+4676G>T) c.765G>T (p.Lys255Asn) n.310G>T c.417G>T (p.Lys139Asn) c.*148G>T (n.*148G>T) n.1551G>T c.1161G>T (p.Lys387Asn) c.1158G>T (p.Lys386Asn) c.894G>T (p.Lys298Asn) c.816G>T (p.Lys272Asn) c.813G>T (p.Lys271Asn) c.891G>T (p.Lys297Asn) n.1537G>T | dbSNP |
| 10 | g.121515303C= | CA1941023744 | FGFR2 | c.1104G= (p.Lys368=) c.1101G= (p.Lys367=) c.-70G= (n.-70G=) n.449G= c.756G= (p.Lys252=) c.404-11362G= (n.404-11362G=) n.3448G= c.834G= (p.Lys278=) c.1107G= (p.Lys369=) c.837G= (p.Lys279=) c.759G= (p.Lys253=) c.939+4676G= (n.939+4676G=) c.765G= (p.Lys255=) n.310G= c.417G= (p.Lys139=) c.*148G= (n.*148G=) n.1551G= c.1161G= (p.Lys387=) c.1158G= (p.Lys386=) c.894G= (p.Lys298=) c.816G= (p.Lys272=) c.813G= (p.Lys271=) c.891G= (p.Lys297=) n.1537G= | |
| 10 | g.121515303C>G | CA378327438 | FGFR2 | c.1104G>C (p.Lys368Asn) c.1101G>C (p.Lys367Asn) c.-70G>C (n.-70G>C) n.449G>C c.756G>C (p.Lys252Asn) c.404-11362G>C (n.404-11362G>C) n.3448G>C c.834G>C (p.Lys278Asn) c.1107G>C (p.Lys369Asn) c.837G>C (p.Lys279Asn) c.759G>C (p.Lys253Asn) c.939+4676G>C (n.939+4676G>C) c.765G>C (p.Lys255Asn) n.310G>C c.417G>C (p.Lys139Asn) c.*148G>C (n.*148G>C) n.1551G>C c.1161G>C (p.Lys387Asn) c.1158G>C (p.Lys386Asn) c.894G>C (p.Lys298Asn) c.816G>C (p.Lys272Asn) c.813G>C (p.Lys271Asn) c.891G>C (p.Lys297Asn) n.1537G>C | dbSNP |
| 10 | g.121515303C>T | CA471652574 | FGFR2 | c.1104G>A (p.Lys368=) c.1101G>A (p.Lys367=) c.-70G>A (n.-70G>A) n.449G>A c.756G>A (p.Lys252=) c.404-11362G>A (n.404-11362G>A) n.3448G>A c.834G>A (p.Lys278=) c.1107G>A (p.Lys369=) c.837G>A (p.Lys279=) c.759G>A (p.Lys253=) c.939+4676G>A (n.939+4676G>A) c.765G>A (p.Lys255=) n.310G>A c.417G>A (p.Lys139=) c.*148G>A (n.*148G>A) n.1551G>A c.1161G>A (p.Lys387=) c.1158G>A (p.Lys386=) c.894G>A (p.Lys298=) c.816G>A (p.Lys272=) c.813G>A (p.Lys271=) c.891G>A (p.Lys297=) n.1537G>A | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.121515304T>A | CA378327441 | FGFR2 | c.1103A>T (p.Lys368Met) c.1100A>T (p.Lys367Met) c.-71A>T (n.-71A>T) n.448A>T c.755A>T (p.Lys252Met) c.404-11363A>T (n.404-11363A>T) n.3447A>T c.833A>T (p.Lys278Met) c.1106A>T (p.Lys369Met) c.836A>T (p.Lys279Met) c.758A>T (p.Lys253Met) c.939+4675A>T (n.939+4675A>T) c.764A>T (p.Lys255Met) n.309A>T c.416A>T (p.Lys139Met) c.*147A>T (n.*147A>T) n.1550A>T c.1160A>T (p.Lys387Met) c.1157A>T (p.Lys386Met) c.893A>T (p.Lys298Met) c.815A>T (p.Lys272Met) c.812A>T (p.Lys271Met) c.890A>T (p.Lys297Met) n.1536A>T | dbSNP |
| 10 | g.121515304T>C | CA378327443 | FGFR2 | c.1103A>G (p.Lys368Arg) c.1100A>G (p.Lys367Arg) c.-71A>G (n.-71A>G) n.448A>G c.755A>G (p.Lys252Arg) c.404-11363A>G (n.404-11363A>G) n.3447A>G c.833A>G (p.Lys278Arg) c.1106A>G (p.Lys369Arg) c.836A>G (p.Lys279Arg) c.758A>G (p.Lys253Arg) c.939+4675A>G (n.939+4675A>G) c.764A>G (p.Lys255Arg) n.309A>G c.416A>G (p.Lys139Arg) c.*147A>G (n.*147A>G) n.1550A>G c.1160A>G (p.Lys387Arg) c.1157A>G (p.Lys386Arg) c.893A>G (p.Lys298Arg) c.815A>G (p.Lys272Arg) c.812A>G (p.Lys271Arg) c.890A>G (p.Lys297Arg) n.1536A>G | dbSNP |
| 10 | g.121515304T>G | CA378327445 | FGFR2 | c.1103A>C (p.Lys368Thr) c.1100A>C (p.Lys367Thr) c.-71A>C (n.-71A>C) n.448A>C c.755A>C (p.Lys252Thr) c.404-11363A>C (n.404-11363A>C) n.3447A>C c.833A>C (p.Lys278Thr) c.1106A>C (p.Lys369Thr) c.836A>C (p.Lys279Thr) c.758A>C (p.Lys253Thr) c.939+4675A>C (n.939+4675A>C) c.764A>C (p.Lys255Thr) n.309A>C c.416A>C (p.Lys139Thr) c.*147A>C (n.*147A>C) n.1550A>C c.1160A>C (p.Lys387Thr) c.1157A>C (p.Lys386Thr) c.893A>C (p.Lys298Thr) c.815A>C (p.Lys272Thr) c.812A>C (p.Lys271Thr) c.890A>C (p.Lys297Thr) n.1536A>C | |
| 10 | g.121515305T>A | CA378327448 | FGFR2 | c.1102A>T (p.Lys368Ter) c.1099A>T (p.Lys367Ter) c.-72A>T (n.-72A>T) n.447A>T c.754A>T (p.Lys252Ter) c.404-11364A>T (n.404-11364A>T) n.3446A>T c.832A>T (p.Lys278Ter) c.1105A>T (p.Lys369Ter) c.835A>T (p.Lys279Ter) c.757A>T (p.Lys253Ter) c.939+4674A>T (n.939+4674A>T) c.763A>T (p.Lys255Ter) n.308A>T c.415A>T (p.Lys139Ter) c.*146A>T (n.*146A>T) n.1549A>T c.1159A>T (p.Lys387Ter) c.1156A>T (p.Lys386Ter) c.892A>T (p.Lys298Ter) c.814A>T (p.Lys272Ter) c.811A>T (p.Lys271Ter) c.889A>T (p.Lys297Ter) n.1535A>T | dbSNP |
| 10 | g.121515305T>C | CA5720837 | FGFR2 | c.1102A>G (p.Lys368Glu) c.1099A>G (p.Lys367Glu) c.-72A>G (n.-72A>G) n.447A>G c.754A>G (p.Lys252Glu) c.404-11364A>G (n.404-11364A>G) n.3446A>G c.832A>G (p.Lys278Glu) c.1105A>G (p.Lys369Glu) c.835A>G (p.Lys279Glu) c.757A>G (p.Lys253Glu) c.939+4674A>G (n.939+4674A>G) c.763A>G (p.Lys255Glu) n.308A>G c.415A>G (p.Lys139Glu) c.*146A>G (n.*146A>G) n.1549A>G c.1159A>G (p.Lys387Glu) c.1156A>G (p.Lys386Glu) c.892A>G (p.Lys298Glu) c.814A>G (p.Lys272Glu) c.811A>G (p.Lys271Glu) c.889A>G (p.Lys297Glu) n.1535A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.121515305T>G | CA378327452 | FGFR2 | c.1102A>C (p.Lys368Gln) c.1099A>C (p.Lys367Gln) c.-72A>C (n.-72A>C) n.447A>C c.754A>C (p.Lys252Gln) c.404-11364A>C (n.404-11364A>C) n.3446A>C c.832A>C (p.Lys278Gln) c.1105A>C (p.Lys369Gln) c.835A>C (p.Lys279Gln) c.757A>C (p.Lys253Gln) c.939+4674A>C (n.939+4674A>C) c.763A>C (p.Lys255Gln) n.308A>C c.415A>C (p.Lys139Gln) c.*146A>C (n.*146A>C) n.1549A>C c.1159A>C (p.Lys387Gln) c.1156A>C (p.Lys386Gln) c.892A>C (p.Lys298Gln) c.814A>C (p.Lys272Gln) c.811A>C (p.Lys271Gln) c.889A>C (p.Lys297Gln) n.1535A>C | dbSNP |
| 10 | g.121515305T= | CA1941023745 | FGFR2 | c.1102A= (p.Lys368=) c.1099A= (p.Lys367=) c.-72A= (n.-72A=) n.447A= c.754A= (p.Lys252=) c.404-11364A= (n.404-11364A=) n.3446A= c.832A= (p.Lys278=) c.1105A= (p.Lys369=) c.835A= (p.Lys279=) c.757A= (p.Lys253=) c.939+4674A= (n.939+4674A=) c.763A= (p.Lys255=) n.308A= c.415A= (p.Lys139=) c.*146A= (n.*146A=) n.1549A= c.1159A= (p.Lys387=) c.1156A= (p.Lys386=) c.892A= (p.Lys298=) c.814A= (p.Lys272=) c.811A= (p.Lys271=) c.889A= (p.Lys297=) n.1535A= |