| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.121517382T>A | CA378328007 | FGFR2 | c.1021A>T (p.Thr341Ser) c.1087+1300A>T (p.=) c.749-2063A>T (p.=) c.754A>T (p.Thr252Ser) c.676A>T (p.Thr226Ser) c.939+2597A>T (p.=) c.820+1300A>T (p.=) n.1471A>T c.1144+1300A>T (p.=) c.1078A>T (p.Thr360Ser) c.877+1300A>T (p.=) c.799+1300A>T (p.=) c.337A>T (p.Thr113Ser) c.733A>T (p.Thr245Ser) c.811A>T (p.Thr271Ser) c.-150A>T (p.=) n.1457A>T c.1027A>T (p.Thr343Ser) c.742+1300A>T (p.=) n.230A>T n.1430A>T c.*68A>T (p.=) | |
| 10 | g.121517382T>C | CA378328011 | FGFR2 | c.1021A>G (p.Thr341Ala) c.1087+1300A>G (p.=) c.749-2063A>G (p.=) c.754A>G (p.Thr252Ala) c.676A>G (p.Thr226Ala) c.939+2597A>G (p.=) c.820+1300A>G (p.=) n.1471A>G c.1144+1300A>G (p.=) c.1078A>G (p.Thr360Ala) c.877+1300A>G (p.=) c.799+1300A>G (p.=) c.337A>G (p.Thr113Ala) c.733A>G (p.Thr245Ala) c.811A>G (p.Thr271Ala) c.-150A>G (p.=) n.1457A>G c.1027A>G (p.Thr343Ala) c.742+1300A>G (p.=) n.230A>G n.1430A>G c.*68A>G (p.=) | |
| 10 | g.121517382T>G | CA280176 | FGFR2 | c.1021A>C (p.Thr341Pro) c.1087+1300A>C (p.=) c.749-2063A>C (p.=) c.754A>C (p.Thr252Pro) c.676A>C (p.Thr226Pro) c.939+2597A>C (p.=) c.820+1300A>C (p.=) n.1471A>C c.1144+1300A>C (p.=) c.1078A>C (p.Thr360Pro) c.877+1300A>C (p.=) c.799+1300A>C (p.=) c.337A>C (p.Thr113Pro) c.733A>C (p.Thr245Pro) c.811A>C (p.Thr271Pro) c.-150A>C (p.=) n.1457A>C c.1027A>C (p.Thr343Pro) c.742+1300A>C (p.=) n.230A>C n.1430A>C c.*68A>C (p.=) | ClinVar dbSNP |
| 10 | g.121517383A>C | CA378328014 | FGFR2 | c.1020T>G (p.Tyr340Ter) c.1087+1299T>G (p.=) c.749-2064T>G (p.=) c.753T>G (p.Tyr251Ter) c.675T>G (p.Tyr225Ter) c.939+2596T>G (p.=) c.820+1299T>G (p.=) n.1470T>G c.1144+1299T>G (p.=) c.1077T>G (p.Tyr359Ter) c.877+1299T>G (p.=) c.799+1299T>G (p.=) c.336T>G (p.Tyr112Ter) c.732T>G (p.Tyr244Ter) c.810T>G (p.Tyr270Ter) c.-151T>G (p.=) n.1456T>G c.1026T>G (p.Tyr342Ter) c.742+1299T>G (p.=) n.229T>G n.1429T>G c.*67T>G (p.=) | |
| 10 | g.121517383A>T | CA378328017 | FGFR2 | c.1020T>A (p.Tyr340Ter) c.1087+1299T>A (p.=) c.749-2064T>A (p.=) c.753T>A (p.Tyr251Ter) c.675T>A (p.Tyr225Ter) c.939+2596T>A (p.=) c.820+1299T>A (p.=) n.1470T>A c.1144+1299T>A (p.=) c.1077T>A (p.Tyr359Ter) c.877+1299T>A (p.=) c.799+1299T>A (p.=) c.336T>A (p.Tyr112Ter) c.732T>A (p.Tyr244Ter) c.810T>A (p.Tyr270Ter) c.-151T>A (p.=) n.1456T>A c.1026T>A (p.Tyr342Ter) c.742+1299T>A (p.=) n.229T>A n.1429T>A c.*67T>A (p.=) | |
| 10 | g.121517384T>A | CA378328021 | FGFR2 | c.1019A>T (p.Tyr340Phe) c.1087+1298A>T (p.=) c.749-2065A>T (p.=) c.752A>T (p.Tyr251Phe) c.674A>T (p.Tyr225Phe) c.939+2595A>T (p.=) c.820+1298A>T (p.=) n.1469A>T c.1144+1298A>T (p.=) c.1076A>T (p.Tyr359Phe) c.877+1298A>T (p.=) c.799+1298A>T (p.=) c.335A>T (p.Tyr112Phe) c.731A>T (p.Tyr244Phe) c.809A>T (p.Tyr270Phe) c.-152A>T (p.=) n.1455A>T c.1025A>T (p.Tyr342Phe) c.742+1298A>T (p.=) n.228A>T n.1428A>T c.*66A>T (p.=) | |
| 10 | g.121517384T>C | CA378328024 | FGFR2 | c.1019A>G (p.Tyr340Cys) c.1087+1298A>G (p.=) c.749-2065A>G (p.=) c.752A>G (p.Tyr251Cys) c.674A>G (p.Tyr225Cys) c.939+2595A>G (p.=) c.820+1298A>G (p.=) n.1469A>G c.1144+1298A>G (p.=) c.1076A>G (p.Tyr359Cys) c.877+1298A>G (p.=) c.799+1298A>G (p.=) c.335A>G (p.Tyr112Cys) c.731A>G (p.Tyr244Cys) c.809A>G (p.Tyr270Cys) c.-152A>G (p.=) n.1455A>G c.1025A>G (p.Tyr342Cys) c.742+1298A>G (p.=) n.228A>G n.1428A>G c.*66A>G (p.=) | ClinVar |
| 10 | g.121517384T>G | CA378328027 | FGFR2 | c.1019A>C (p.Tyr340Ser) c.1087+1298A>C (p.=) c.749-2065A>C (p.=) c.752A>C (p.Tyr251Ser) c.674A>C (p.Tyr225Ser) c.939+2595A>C (p.=) c.820+1298A>C (p.=) n.1469A>C c.1144+1298A>C (p.=) c.1076A>C (p.Tyr359Ser) c.877+1298A>C (p.=) c.799+1298A>C (p.=) c.335A>C (p.Tyr112Ser) c.731A>C (p.Tyr244Ser) c.809A>C (p.Tyr270Ser) c.-152A>C (p.=) n.1455A>C c.1025A>C (p.Tyr342Ser) c.742+1298A>C (p.=) n.228A>C n.1428A>C c.*66A>C (p.=) | |
| 10 | g.121517385A>C | CA378328030 | FGFR2 | c.1018T>G (p.Tyr340Asp) c.1087+1297T>G (p.=) c.749-2066T>G (p.=) c.751T>G (p.Tyr251Asp) c.673T>G (p.Tyr225Asp) c.939+2594T>G (p.=) c.820+1297T>G (p.=) n.1468T>G c.1144+1297T>G (p.=) c.1075T>G (p.Tyr359Asp) c.877+1297T>G (p.=) c.799+1297T>G (p.=) c.334T>G (p.Tyr112Asp) c.730T>G (p.Tyr244Asp) c.808T>G (p.Tyr270Asp) c.-153T>G (p.=) n.1454T>G c.1024T>G (p.Tyr342Asp) c.742+1297T>G (p.=) n.227T>G n.1427T>G c.*65T>G (p.=) | |
| 10 | g.121517385A>G | CA280169 | FGFR2 | c.1018T>C (p.Tyr340His) c.1087+1297T>C (p.=) c.749-2066T>C (p.=) c.751T>C (p.Tyr251His) c.673T>C (p.Tyr225His) c.939+2594T>C (p.=) c.820+1297T>C (p.=) n.1468T>C c.1144+1297T>C (p.=) c.1075T>C (p.Tyr359His) c.877+1297T>C (p.=) c.799+1297T>C (p.=) c.334T>C (p.Tyr112His) c.730T>C (p.Tyr244His) c.808T>C (p.Tyr270His) c.-153T>C (p.=) n.1454T>C c.1024T>C (p.Tyr342His) c.742+1297T>C (p.=) n.227T>C n.1427T>C c.*65T>C (p.=) | ClinVar dbSNP |
| 10 | g.121517385A>T | CA378328034 | FGFR2 | c.1018T>A (p.Tyr340Asn) c.1087+1297T>A (p.=) c.749-2066T>A (p.=) c.751T>A (p.Tyr251Asn) c.673T>A (p.Tyr225Asn) c.939+2594T>A (p.=) c.820+1297T>A (p.=) n.1468T>A c.1144+1297T>A (p.=) c.1075T>A (p.Tyr359Asn) c.877+1297T>A (p.=) c.799+1297T>A (p.=) c.334T>A (p.Tyr112Asn) c.730T>A (p.Tyr244Asn) c.808T>A (p.Tyr270Asn) c.-153T>A (p.=) n.1454T>A c.1024T>A (p.Tyr342Asn) c.742+1297T>A (p.=) n.227T>A n.1427T>A c.*65T>A (p.=) | |
| 10 | g.121517385_121517391del | CA645568650 | FGFR2 | c.1011_1017del (p.Gly338IlefsTer18) c.1087+1290_1087+1296del (p.=) c.749-2073_749-2067del (p.=) c.744_750del (p.Gly249IlefsTer18) c.666_672del (p.Gly223IlefsTer18) c.939+2587_939+2593del (p.=) c.820+1290_820+1296del (p.=) n.1461_1467del c.1144+1290_1144+1296del (p.=) c.1068_1074del (p.Gly357IlefsTer18) c.877+1290_877+1296del (p.=) c.799+1290_799+1296del (p.=) c.327_333del (p.Gly110IlefsTer18) c.723_729del (p.Gly242IlefsTer18) c.801_807del (p.Gly268IlefsTer18) c.-160_-154del (p.=) n.1447_1453del c.1017_1023del (p.Gly340IlefsTer18) c.742+1290_742+1296del (p.=) n.220_226del n.1420_1426del c.*58_*64del (p.=) | COSMIC COSMIC COSMIC |
| 10 | g.121517386T>A | CA378328039 | FGFR2 | c.1017A>T (p.Glu339Asp) c.1087+1296A>T (p.=) c.749-2067A>T (p.=) c.750A>T (p.Glu250Asp) c.672A>T (p.Glu224Asp) c.939+2593A>T (p.=) c.820+1296A>T (p.=) n.1467A>T c.1144+1296A>T (p.=) c.1074A>T (p.Glu358Asp) c.877+1296A>T (p.=) c.799+1296A>T (p.=) c.333A>T (p.Glu111Asp) c.729A>T (p.Glu243Asp) c.807A>T (p.Glu269Asp) c.-154A>T (p.=) n.1453A>T c.1023A>T (p.Glu341Asp) c.742+1296A>T (p.=) n.226A>T n.1426A>T c.*64A>T (p.=) | |
| 10 | g.121517386T>C | CA596347241 | FGFR2 | c.1017A>G (p.Glu339=) c.1087+1296A>G (p.=) c.749-2067A>G (p.=) c.750A>G (p.Glu250=) c.672A>G (p.Glu224=) c.939+2593A>G (p.=) c.820+1296A>G (p.=) n.1467A>G c.1144+1296A>G (p.=) c.1074A>G (p.Glu358=) c.877+1296A>G (p.=) c.799+1296A>G (p.=) c.333A>G (p.Glu111=) c.729A>G (p.Glu243=) c.807A>G (p.Glu269=) c.-154A>G (p.=) n.1453A>G c.1023A>G (p.Glu341=) c.742+1296A>G (p.=) n.226A>G n.1426A>G c.*64A>G (p.=) | gnomAD |
| 10 | g.121517386T>G | CA378328042 | FGFR2 | c.1017A>C (p.Glu339Asp) c.1087+1296A>C (p.=) c.749-2067A>C (p.=) c.750A>C (p.Glu250Asp) c.672A>C (p.Glu224Asp) c.939+2593A>C (p.=) c.820+1296A>C (p.=) n.1467A>C c.1144+1296A>C (p.=) c.1074A>C (p.Glu358Asp) c.877+1296A>C (p.=) c.799+1296A>C (p.=) c.333A>C (p.Glu111Asp) c.729A>C (p.Glu243Asp) c.807A>C (p.Glu269Asp) c.-154A>C (p.=) n.1453A>C c.1023A>C (p.Glu341Asp) c.742+1296A>C (p.=) n.226A>C n.1426A>C c.*64A>C (p.=) | |
| 10 | g.121517387T>A | CA378328050 | FGFR2 | c.1016A>T (p.Glu339Val) c.1087+1295A>T (p.=) c.749-2068A>T (p.=) c.749A>T (p.Glu250Val) c.671A>T (p.Glu224Val) c.939+2592A>T (p.=) c.820+1295A>T (p.=) n.1466A>T c.1144+1295A>T (p.=) c.1073A>T (p.Glu358Val) c.877+1295A>T (p.=) c.799+1295A>T (p.=) c.332A>T (p.Glu111Val) c.728A>T (p.Glu243Val) c.806A>T (p.Glu269Val) c.-155A>T (p.=) n.1452A>T c.1022A>T (p.Glu341Val) c.742+1295A>T (p.=) n.225A>T n.1425A>T c.*63A>T (p.=) | |
| 10 | g.121517387T>C | CA378328053 | FGFR2 | c.1016A>G (p.Glu339Gly) c.1087+1295A>G (p.=) c.749-2068A>G (p.=) c.749A>G (p.Glu250Gly) c.671A>G (p.Glu224Gly) c.939+2592A>G (p.=) c.820+1295A>G (p.=) n.1466A>G c.1144+1295A>G (p.=) c.1073A>G (p.Glu358Gly) c.877+1295A>G (p.=) c.799+1295A>G (p.=) c.332A>G (p.Glu111Gly) c.728A>G (p.Glu243Gly) c.806A>G (p.Glu269Gly) c.-155A>G (p.=) n.1452A>G c.1022A>G (p.Glu341Gly) c.742+1295A>G (p.=) n.225A>G n.1425A>G c.*63A>G (p.=) | |
| 10 | g.121517387T>G | CA378328046 | FGFR2 | c.1016A>C (p.Glu339Ala) c.1087+1295A>C (p.=) c.749-2068A>C (p.=) c.749A>C (p.Glu250Ala) c.671A>C (p.Glu224Ala) c.939+2592A>C (p.=) c.820+1295A>C (p.=) n.1466A>C c.1144+1295A>C (p.=) c.1073A>C (p.Glu358Ala) c.877+1295A>C (p.=) c.799+1295A>C (p.=) c.332A>C (p.Glu111Ala) c.728A>C (p.Glu243Ala) c.806A>C (p.Glu269Ala) c.-155A>C (p.=) n.1452A>C c.1022A>C (p.Glu341Ala) c.742+1295A>C (p.=) n.225A>C n.1425A>C c.*63A>C (p.=) | |
| 10 | g.121517388C>A | CA378328055 | FGFR2 | c.1015G>T (p.Glu339Ter) c.1087+1294G>T (p.=) c.749-2069G>T (p.=) c.748G>T (p.Glu250Ter) c.670G>T (p.Glu224Ter) c.939+2591G>T (p.=) c.820+1294G>T (p.=) n.1465G>T c.1144+1294G>T (p.=) c.1072G>T (p.Glu358Ter) c.877+1294G>T (p.=) c.799+1294G>T (p.=) c.331G>T (p.Glu111Ter) c.727G>T (p.Glu243Ter) c.805G>T (p.Glu269Ter) c.-156G>T (p.=) n.1451G>T c.1021G>T (p.Glu341Ter) c.742+1294G>T (p.=) n.224G>T n.1424G>T c.*62G>T (p.=) | |
| 10 | g.121517388C>G | CA378328058 | FGFR2 | c.1015G>C (p.Glu339Gln) c.1087+1294G>C (p.=) c.749-2069G>C (p.=) c.748G>C (p.Glu250Gln) c.670G>C (p.Glu224Gln) c.939+2591G>C (p.=) c.820+1294G>C (p.=) n.1465G>C c.1144+1294G>C (p.=) c.1072G>C (p.Glu358Gln) c.877+1294G>C (p.=) c.799+1294G>C (p.=) c.331G>C (p.Glu111Gln) c.727G>C (p.Glu243Gln) c.805G>C (p.Glu269Gln) c.-156G>C (p.=) n.1451G>C c.1021G>C (p.Glu341Gln) c.742+1294G>C (p.=) n.224G>C n.1424G>C c.*62G>C (p.=) | |
| 10 | g.121517388C>T | CA378328061 | FGFR2 | c.1015G>A (p.Glu339Lys) c.1087+1294G>A (p.=) c.749-2069G>A (p.=) c.748G>A (p.Glu250Lys) c.670G>A (p.Glu224Lys) c.939+2591G>A (p.=) c.820+1294G>A (p.=) n.1465G>A c.1144+1294G>A (p.=) c.1072G>A (p.Glu358Lys) c.877+1294G>A (p.=) c.799+1294G>A (p.=) c.331G>A (p.Glu111Lys) c.727G>A (p.Glu243Lys) c.805G>A (p.Glu269Lys) c.-156G>A (p.=) n.1451G>A c.1021G>A (p.Glu341Lys) c.742+1294G>A (p.=) n.224G>A n.1424G>A c.*62G>A (p.=) | |
| 10 | g.121517389C>T | CA214310200 | FGFR2 | c.1014G>A (p.Gly338=) c.1087+1293G>A (p.=) c.749-2070G>A (p.=) c.747G>A (p.Gly249=) c.669G>A (p.Gly223=) c.939+2590G>A (p.=) c.820+1293G>A (p.=) n.1464G>A c.1144+1293G>A (p.=) c.1071G>A (p.Gly357=) c.877+1293G>A (p.=) c.799+1293G>A (p.=) c.330G>A (p.Gly110=) c.726G>A (p.Gly242=) c.804G>A (p.Gly268=) c.-157G>A (p.=) n.1450G>A c.1020G>A (p.Gly340=) c.742+1293G>A (p.=) n.223G>A n.1423G>A c.*61G>A (p.=) | dbSNP gnomAD COSMIC COSMIC COSMIC |
| 10 | g.121517390C>A | CA378328078 | FGFR2 | c.1013G>T (p.Gly338Val) c.1087+1292G>T (p.=) c.749-2071G>T (p.=) c.746G>T (p.Gly249Val) c.668G>T (p.Gly223Val) c.939+2589G>T (p.=) c.820+1292G>T (p.=) n.1463G>T c.1144+1292G>T (p.=) c.1070G>T (p.Gly357Val) c.877+1292G>T (p.=) c.799+1292G>T (p.=) c.329G>T (p.Gly110Val) c.725G>T (p.Gly242Val) c.803G>T (p.Gly268Val) c.-158G>T (p.=) n.1449G>T c.1019G>T (p.Gly340Val) c.742+1292G>T (p.=) n.222G>T n.1422G>T c.*60G>T (p.=) | |
| 10 | g.121517390C>G | CA378328082 | FGFR2 | c.1013G>C (p.Gly338Ala) c.1087+1292G>C (p.=) c.749-2071G>C (p.=) c.746G>C (p.Gly249Ala) c.668G>C (p.Gly223Ala) c.939+2589G>C (p.=) c.820+1292G>C (p.=) n.1463G>C c.1144+1292G>C (p.=) c.1070G>C (p.Gly357Ala) c.877+1292G>C (p.=) c.799+1292G>C (p.=) c.329G>C (p.Gly110Ala) c.725G>C (p.Gly242Ala) c.803G>C (p.Gly268Ala) c.-158G>C (p.=) n.1449G>C c.1019G>C (p.Gly340Ala) c.742+1292G>C (p.=) n.222G>C n.1422G>C c.*60G>C (p.=) | |
| 10 | g.121517390C>T | CA16043911 | FGFR2 | c.1013G>A (p.Gly338Glu) c.1087+1292G>A (p.=) c.749-2071G>A (p.=) c.746G>A (p.Gly249Glu) c.668G>A (p.Gly223Glu) c.939+2589G>A (p.=) c.820+1292G>A (p.=) n.1463G>A c.1144+1292G>A (p.=) c.1070G>A (p.Gly357Glu) c.877+1292G>A (p.=) c.799+1292G>A (p.=) c.329G>A (p.Gly110Glu) c.725G>A (p.Gly242Glu) c.803G>A (p.Gly268Glu) c.-158G>A (p.=) n.1449G>A c.1019G>A (p.Gly340Glu) c.742+1292G>A (p.=) n.222G>A n.1422G>A c.*60G>A (p.=) | ClinVar |
| 10 | g.121517390_121517391delinsTT | CA658658022 | FGFR2 | c.1012_1013delinsAA (p.Gly338Lys) c.1087+1291_1087+1292delinsAA (p.=) c.749-2072_749-2071delinsAA (p.=) c.745_746delinsAA (p.Gly249Lys) c.667_668delinsAA (p.Gly223Lys) c.939+2588_939+2589delinsAA (p.=) c.820+1291_820+1292delinsAA (p.=) n.1462_1463delinsAA c.1144+1291_1144+1292delinsAA (p.=) c.1069_1070delinsAA (p.Gly357Lys) c.877+1291_877+1292delinsAA (p.=) c.799+1291_799+1292delinsAA (p.=) c.328_329delinsAA (p.Gly110Lys) c.724_725delinsAA (p.Gly242Lys) c.802_803delinsAA (p.Gly268Lys) c.-159_-158delinsAA (p.=) n.1448_1449delinsAA c.1018_1019delinsAA (p.Gly340Lys) c.742+1291_742+1292delinsAA (p.=) n.221_222delinsAA n.1421_1422delinsAA c.*59_*60delinsAA (p.=) | ClinVar dbSNP |
| 10 | g.121517391C>A | CA378328091 | FGFR2 | c.1012G>T (p.Gly338Trp) c.1087+1291G>T (p.=) c.749-2072G>T (p.=) c.745G>T (p.Gly249Trp) c.667G>T (p.Gly223Trp) c.939+2588G>T (p.=) c.820+1291G>T (p.=) n.1462G>T c.1144+1291G>T (p.=) c.1069G>T (p.Gly357Trp) c.877+1291G>T (p.=) c.799+1291G>T (p.=) c.328G>T (p.Gly110Trp) c.724G>T (p.Gly242Trp) c.802G>T (p.Gly268Trp) c.-159G>T (p.=) n.1448G>T c.1018G>T (p.Gly340Trp) c.742+1291G>T (p.=) n.221G>T n.1421G>T c.*59G>T (p.=) | ClinVar |
| 10 | g.121517391C>G | CA16043912 | FGFR2 | c.1012G>C (p.Gly338Arg) c.1087+1291G>C (p.=) c.749-2072G>C (p.=) c.745G>C (p.Gly249Arg) c.667G>C (p.Gly223Arg) c.939+2588G>C (p.=) c.820+1291G>C (p.=) n.1462G>C c.1144+1291G>C (p.=) c.1069G>C (p.Gly357Arg) c.877+1291G>C (p.=) c.799+1291G>C (p.=) c.328G>C (p.Gly110Arg) c.724G>C (p.Gly242Arg) c.802G>C (p.Gly268Arg) c.-159G>C (p.=) n.1448G>C c.1018G>C (p.Gly340Arg) c.742+1291G>C (p.=) n.221G>C n.1421G>C c.*59G>C (p.=) | ClinVar |
| 10 | g.121517391C>T | CA378328094 | FGFR2 | c.1012G>A (p.Gly338Arg) c.1087+1291G>A (p.=) c.749-2072G>A (p.=) c.745G>A (p.Gly249Arg) c.667G>A (p.Gly223Arg) c.939+2588G>A (p.=) c.820+1291G>A (p.=) n.1462G>A c.1144+1291G>A (p.=) c.1069G>A (p.Gly357Arg) c.877+1291G>A (p.=) c.799+1291G>A (p.=) c.328G>A (p.Gly110Arg) c.724G>A (p.Gly242Arg) c.802G>A (p.Gly268Arg) c.-159G>A (p.=) n.1448G>A c.1018G>A (p.Gly340Arg) c.742+1291G>A (p.=) n.221G>A n.1421G>A c.*59G>A (p.=) | ClinVar |
| 10 | g.121517392A>G | CA10587075 | FGFR2 | c.1011T>C (p.Ala337=) c.1087+1290T>C (p.=) c.749-2073T>C (p.=) c.744T>C (p.Ala248=) c.666T>C (p.Ala222=) c.939+2587T>C (p.=) c.820+1290T>C (p.=) n.1461T>C c.1144+1290T>C (p.=) c.1068T>C (p.Ala356=) c.877+1290T>C (p.=) c.799+1290T>C (p.=) c.327T>C (p.Ala109=) c.723T>C (p.Ala241=) c.801T>C (p.Ala267=) c.-160T>C (p.=) n.1447T>C c.1017T>C (p.Ala339=) c.742+1290T>C (p.=) n.220T>C n.1420T>C c.*58T>C (p.=) | ClinVar dbSNP |
| 10 | g.121517393G>A | CA378328099 | FGFR2 | c.1010C>T (p.Ala337Val) c.1087+1289C>T (p.=) c.749-2074C>T (p.=) c.743C>T (p.Ala248Val) c.665C>T (p.Ala222Val) c.939+2586C>T (p.=) c.820+1289C>T (p.=) n.1460C>T c.1144+1289C>T (p.=) c.1067C>T (p.Ala356Val) c.877+1289C>T (p.=) c.799+1289C>T (p.=) c.326C>T (p.Ala109Val) c.722C>T (p.Ala241Val) c.800C>T (p.Ala267Val) c.-161C>T (p.=) n.1446C>T c.1016C>T (p.Ala339Val) c.742+1289C>T (p.=) n.219C>T n.1419C>T c.*57C>T (p.=) | COSMIC COSMIC COSMIC |
| 10 | g.121517393G>C | CA378328101 | FGFR2 | c.1010C>G (p.Ala337Gly) c.1087+1289C>G (p.=) c.749-2074C>G (p.=) c.743C>G (p.Ala248Gly) c.665C>G (p.Ala222Gly) c.939+2586C>G (p.=) c.820+1289C>G (p.=) n.1460C>G c.1144+1289C>G (p.=) c.1067C>G (p.Ala356Gly) c.877+1289C>G (p.=) c.799+1289C>G (p.=) c.326C>G (p.Ala109Gly) c.722C>G (p.Ala241Gly) c.800C>G (p.Ala267Gly) c.-161C>G (p.=) n.1446C>G c.1016C>G (p.Ala339Gly) c.742+1289C>G (p.=) n.219C>G n.1419C>G c.*57C>G (p.=) | |
| 10 | g.121517393G>T | CA378328103 | FGFR2 | c.1010C>A (p.Ala337Asp) c.1087+1289C>A (p.=) c.749-2074C>A (p.=) c.743C>A (p.Ala248Asp) c.665C>A (p.Ala222Asp) c.939+2586C>A (p.=) c.820+1289C>A (p.=) n.1460C>A c.1144+1289C>A (p.=) c.1067C>A (p.Ala356Asp) c.877+1289C>A (p.=) c.799+1289C>A (p.=) c.326C>A (p.Ala109Asp) c.722C>A (p.Ala241Asp) c.800C>A (p.Ala267Asp) c.-161C>A (p.=) n.1446C>A c.1016C>A (p.Ala339Asp) c.742+1289C>A (p.=) n.219C>A n.1419C>A c.*57C>A (p.=) | |
| 10 | g.121517394C>A | CA378328108 | FGFR2 | c.1009G>T (p.Ala337Ser) c.1087+1288G>T (p.=) c.749-2075G>T (p.=) c.742G>T (p.Ala248Ser) c.664G>T (p.Ala222Ser) c.939+2585G>T (p.=) c.820+1288G>T (p.=) n.1459G>T c.1144+1288G>T (p.=) c.1066G>T (p.Ala356Ser) c.877+1288G>T (p.=) c.799+1288G>T (p.=) c.325G>T (p.Ala109Ser) c.721G>T (p.Ala241Ser) c.799G>T (p.Ala267Ser) c.-162G>T (p.=) n.1445G>T c.1015G>T (p.Ala339Ser) c.742+1288G>T (p.=) n.218G>T n.1418G>T c.*56G>T (p.=) | |
| 10 | g.121517394C>G | CA280240 | FGFR2 | c.1009G>C (p.Ala337Pro) c.1087+1288G>C (p.=) c.749-2075G>C (p.=) c.742G>C (p.Ala248Pro) c.664G>C (p.Ala222Pro) c.939+2585G>C (p.=) c.820+1288G>C (p.=) n.1459G>C c.1144+1288G>C (p.=) c.1066G>C (p.Ala356Pro) c.877+1288G>C (p.=) c.799+1288G>C (p.=) c.325G>C (p.Ala109Pro) c.721G>C (p.Ala241Pro) c.799G>C (p.Ala267Pro) c.-162G>C (p.=) n.1445G>C c.1015G>C (p.Ala339Pro) c.742+1288G>C (p.=) n.218G>C n.1418G>C c.*56G>C (p.=) | ClinVar dbSNP |
| 10 | g.121517394C>T | CA128691 | FGFR2 | c.1009G>A (p.Ala337Thr) c.1087+1288G>A (p.=) c.749-2075G>A (p.=) c.742G>A (p.Ala248Thr) c.664G>A (p.Ala222Thr) c.939+2585G>A (p.=) c.820+1288G>A (p.=) n.1459G>A c.1144+1288G>A (p.=) c.1066G>A (p.Ala356Thr) c.877+1288G>A (p.=) c.799+1288G>A (p.=) c.325G>A (p.Ala109Thr) c.721G>A (p.Ala241Thr) c.799G>A (p.Ala267Thr) c.-162G>A (p.=) n.1445G>A c.1015G>A (p.Ala339Thr) c.742+1288G>A (p.=) n.218G>A n.1418G>A c.*56G>A (p.=) | ClinVar dbSNP |
| 10 | g.121517395G>A | CA5720878 | FGFR2 | c.1008C>T (p.Asp336=) c.1087+1287C>T (p.=) c.749-2076C>T (p.=) c.741C>T (p.Asp247=) c.663C>T (p.Asp221=) c.939+2584C>T (p.=) c.820+1287C>T (p.=) n.1458C>T c.1144+1287C>T (p.=) c.1065C>T (p.Asp355=) c.877+1287C>T (p.=) c.799+1287C>T (p.=) c.324C>T (p.Asp108=) c.720C>T (p.Asp240=) c.798C>T (p.Asp266=) c.-163C>T (p.=) n.1444C>T c.1014C>T (p.Asp338=) c.742+1287C>T (p.=) n.217C>T n.1417C>T c.*55C>T (p.=) | dbSNP ExAC gnomAD |
| 10 | g.121517395G>C | CA378328119 | FGFR2 | c.1008C>G (p.Asp336Glu) c.1087+1287C>G (p.=) c.749-2076C>G (p.=) c.741C>G (p.Asp247Glu) c.663C>G (p.Asp221Glu) c.939+2584C>G (p.=) c.820+1287C>G (p.=) n.1458C>G c.1144+1287C>G (p.=) c.1065C>G (p.Asp355Glu) c.877+1287C>G (p.=) c.799+1287C>G (p.=) c.324C>G (p.Asp108Glu) c.720C>G (p.Asp240Glu) c.798C>G (p.Asp266Glu) c.-163C>G (p.=) n.1444C>G c.1014C>G (p.Asp338Glu) c.742+1287C>G (p.=) n.217C>G n.1417C>G c.*55C>G (p.=) | |
| 10 | g.121517395G>T | CA378328122 | FGFR2 | c.1008C>A (p.Asp336Glu) c.1087+1287C>A (p.=) c.749-2076C>A (p.=) c.741C>A (p.Asp247Glu) c.663C>A (p.Asp221Glu) c.939+2584C>A (p.=) c.820+1287C>A (p.=) n.1458C>A c.1144+1287C>A (p.=) c.1065C>A (p.Asp355Glu) c.877+1287C>A (p.=) c.799+1287C>A (p.=) c.324C>A (p.Asp108Glu) c.720C>A (p.Asp240Glu) c.798C>A (p.Asp266Glu) c.-163C>A (p.=) n.1444C>A c.1014C>A (p.Asp338Glu) c.742+1287C>A (p.=) n.217C>A n.1417C>A c.*55C>A (p.=) | |
| 10 | g.121517396T>A | CA378328124 | FGFR2 | c.1007A>T (p.Asp336Val) c.1087+1286A>T (p.=) c.749-2077A>T (p.=) c.740A>T (p.Asp247Val) c.662A>T (p.Asp221Val) c.939+2583A>T (p.=) c.820+1286A>T (p.=) n.1457A>T c.1144+1286A>T (p.=) c.1064A>T (p.Asp355Val) c.877+1286A>T (p.=) c.799+1286A>T (p.=) c.323A>T (p.Asp108Val) c.719A>T (p.Asp240Val) c.797A>T (p.Asp266Val) c.-164A>T (p.=) n.1443A>T c.1013A>T (p.Asp338Val) c.742+1286A>T (p.=) n.216A>T n.1416A>T c.*54A>T (p.=) | |
| 10 | g.121517396T>C | CA16043913 | FGFR2 | c.1007A>G (p.Asp336Gly) c.1087+1286A>G (p.=) c.749-2077A>G (p.=) c.740A>G (p.Asp247Gly) c.662A>G (p.Asp221Gly) c.939+2583A>G (p.=) c.820+1286A>G (p.=) n.1457A>G c.1144+1286A>G (p.=) c.1064A>G (p.Asp355Gly) c.877+1286A>G (p.=) c.799+1286A>G (p.=) c.323A>G (p.Asp108Gly) c.719A>G (p.Asp240Gly) c.797A>G (p.Asp266Gly) c.-164A>G (p.=) n.1443A>G c.1013A>G (p.Asp338Gly) c.742+1286A>G (p.=) n.216A>G n.1416A>G c.*54A>G (p.=) | ClinVar |
| 10 | g.121517396T>G | CA378328128 | FGFR2 | c.1007A>C (p.Asp336Ala) c.1087+1286A>C (p.=) c.749-2077A>C (p.=) c.740A>C (p.Asp247Ala) c.662A>C (p.Asp221Ala) c.939+2583A>C (p.=) c.820+1286A>C (p.=) n.1457A>C c.1144+1286A>C (p.=) c.1064A>C (p.Asp355Ala) c.877+1286A>C (p.=) c.799+1286A>C (p.=) c.323A>C (p.Asp108Ala) c.719A>C (p.Asp240Ala) c.797A>C (p.Asp266Ala) c.-164A>C (p.=) n.1443A>C c.1013A>C (p.Asp338Ala) c.742+1286A>C (p.=) n.216A>C n.1416A>C c.*54A>C (p.=) | |
| 10 | g.121517397C>A | CA378328131 | FGFR2 | c.1006G>T (p.Asp336Tyr) c.1087+1285G>T (p.=) c.749-2078G>T (p.=) c.739G>T (p.Asp247Tyr) c.661G>T (p.Asp221Tyr) c.939+2582G>T (p.=) c.820+1285G>T (p.=) n.1456G>T c.1144+1285G>T (p.=) c.1063G>T (p.Asp355Tyr) c.877+1285G>T (p.=) c.799+1285G>T (p.=) c.322G>T (p.Asp108Tyr) c.718G>T (p.Asp240Tyr) c.796G>T (p.Asp266Tyr) c.-165G>T (p.=) n.1442G>T c.1012G>T (p.Asp338Tyr) c.742+1285G>T (p.=) n.215G>T n.1415G>T c.*53G>T (p.=) | |
| 10 | g.121517397C>G | CA378328132 | FGFR2 | c.1006G>C (p.Asp336His) c.1087+1285G>C (p.=) c.749-2078G>C (p.=) c.739G>C (p.Asp247His) c.661G>C (p.Asp221His) c.939+2582G>C (p.=) c.820+1285G>C (p.=) n.1456G>C c.1144+1285G>C (p.=) c.1063G>C (p.Asp355His) c.877+1285G>C (p.=) c.799+1285G>C (p.=) c.322G>C (p.Asp108His) c.718G>C (p.Asp240His) c.796G>C (p.Asp266His) c.-165G>C (p.=) n.1442G>C c.1012G>C (p.Asp338His) c.742+1285G>C (p.=) n.215G>C n.1415G>C c.*53G>C (p.=) | |
| 10 | g.121517397C>T | CA378328133 | FGFR2 | c.1006G>A (p.Asp336Asn) c.1087+1285G>A (p.=) c.749-2078G>A (p.=) c.739G>A (p.Asp247Asn) c.661G>A (p.Asp221Asn) c.939+2582G>A (p.=) c.820+1285G>A (p.=) n.1456G>A c.1144+1285G>A (p.=) c.1063G>A (p.Asp355Asn) c.877+1285G>A (p.=) c.799+1285G>A (p.=) c.322G>A (p.Asp108Asn) c.718G>A (p.Asp240Asn) c.796G>A (p.Asp266Asn) c.-165G>A (p.=) n.1442G>A c.1012G>A (p.Asp338Asn) c.742+1285G>A (p.=) n.215G>A n.1415G>A c.*53G>A (p.=) | |
| 10 | g.121517398C>A | CA378328135 | FGFR2 | c.1005G>T (p.Glu335Asp) c.1087+1284G>T (p.=) c.749-2079G>T (p.=) c.738G>T (p.Glu246Asp) c.660G>T (p.Glu220Asp) c.939+2581G>T (p.=) c.820+1284G>T (p.=) n.1455G>T c.1144+1284G>T (p.=) c.1062G>T (p.Glu354Asp) c.877+1284G>T (p.=) c.799+1284G>T (p.=) c.321G>T (p.Glu107Asp) c.717G>T (p.Glu239Asp) c.795G>T (p.Glu265Asp) c.-166G>T (p.=) n.1441G>T c.1011G>T (p.Glu337Asp) c.742+1284G>T (p.=) n.214G>T n.1414G>T c.*52G>T (p.=) | COSMIC COSMIC COSMIC |
| 10 | g.121517398C>G | CA378328139 | FGFR2 | c.1005G>C (p.Glu335Asp) c.1087+1284G>C (p.=) c.749-2079G>C (p.=) c.738G>C (p.Glu246Asp) c.660G>C (p.Glu220Asp) c.939+2581G>C (p.=) c.820+1284G>C (p.=) n.1455G>C c.1144+1284G>C (p.=) c.1062G>C (p.Glu354Asp) c.877+1284G>C (p.=) c.799+1284G>C (p.=) c.321G>C (p.Glu107Asp) c.717G>C (p.Glu239Asp) c.795G>C (p.Glu265Asp) c.-166G>C (p.=) n.1441G>C c.1011G>C (p.Glu337Asp) c.742+1284G>C (p.=) n.214G>C n.1414G>C c.*52G>C (p.=) | |
| 10 | g.121517399T>A | CA378328152 | FGFR2 | c.1004A>T (p.Glu335Val) c.1087+1283A>T (p.=) c.749-2080A>T (p.=) c.737A>T (p.Glu246Val) c.659A>T (p.Glu220Val) c.939+2580A>T (p.=) c.820+1283A>T (p.=) n.1454A>T c.1144+1283A>T (p.=) c.1061A>T (p.Glu354Val) c.877+1283A>T (p.=) c.799+1283A>T (p.=) c.320A>T (p.Glu107Val) c.716A>T (p.Glu239Val) c.794A>T (p.Glu265Val) c.-167A>T (p.=) n.1440A>T c.1010A>T (p.Glu337Val) c.742+1283A>T (p.=) n.213A>T n.1413A>T c.*51A>T (p.=) | |
| 10 | g.121517399T>C | CA378328149 | FGFR2 | c.1004A>G (p.Glu335Gly) c.1087+1283A>G (p.=) c.749-2080A>G (p.=) c.737A>G (p.Glu246Gly) c.659A>G (p.Glu220Gly) c.939+2580A>G (p.=) c.820+1283A>G (p.=) n.1454A>G c.1144+1283A>G (p.=) c.1061A>G (p.Glu354Gly) c.877+1283A>G (p.=) c.799+1283A>G (p.=) c.320A>G (p.Glu107Gly) c.716A>G (p.Glu239Gly) c.794A>G (p.Glu265Gly) c.-167A>G (p.=) n.1440A>G c.1010A>G (p.Glu337Gly) c.742+1283A>G (p.=) n.213A>G n.1413A>G c.*51A>G (p.=) | |
| 10 | g.121517399T>G | CA378328143 | FGFR2 | c.1004A>C (p.Glu335Ala) c.1087+1283A>C (p.=) c.749-2080A>C (p.=) c.737A>C (p.Glu246Ala) c.659A>C (p.Glu220Ala) c.939+2580A>C (p.=) c.820+1283A>C (p.=) n.1454A>C c.1144+1283A>C (p.=) c.1061A>C (p.Glu354Ala) c.877+1283A>C (p.=) c.799+1283A>C (p.=) c.320A>C (p.Glu107Ala) c.716A>C (p.Glu239Ala) c.794A>C (p.Glu265Ala) c.-167A>C (p.=) n.1440A>C c.1010A>C (p.Glu337Ala) c.742+1283A>C (p.=) n.213A>C n.1413A>C c.*51A>C (p.=) |