WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.121498528T>A | CA378321463 | FGFR2 | c.1642A>T (p.Ile548Phe) c.1633A>T (p.Ile545Phe) c.463A>T (p.Ile155Phe) n.981A>T c.1288A>T (p.Ile430Phe) n.459A>T c.*341A>T (n.*341A>T) n.3980A>T n.2652A>T c.1639A>T (p.Ile547Phe) c.1366A>T (p.Ile456Phe) c.1372A>T (p.Ile458Phe) c.1375A>T (p.Ile459Phe) c.1297A>T (p.Ile433Phe) c.1291A>T (p.Ile431Phe) c.1303A>T (p.Ile435Phe) c.415A>T (p.Ile139Phe) c.955A>T (p.Ile319Phe) c.*686A>T (n.*686A>T) c.1294A>T (p.Ile432Phe) n.2089A>T c.1693A>T (p.Ile565Phe) c.1690A>T (p.Ile564Phe) c.1699A>T (p.Ile567Phe) c.1432A>T (p.Ile478Phe) c.1354A>T (p.Ile452Phe) c.1696A>T (p.Ile566Phe) c.1351A>T (p.Ile451Phe) c.1345A>T (p.Ile449Phe) c.1429A>T (p.Ile477Phe) c.1426A>T (p.Ile476Phe) c.1423A>T (p.Ile475Phe) c.469A>T (p.Ile157Phe) n.2075A>T | |
| 10 | g.121498528T>C | CA16602615 | FGFR2 | c.1642A>G (p.Ile548Val) c.1633A>G (p.Ile545Val) c.463A>G (p.Ile155Val) n.981A>G c.1288A>G (p.Ile430Val) n.459A>G c.*341A>G (n.*341A>G) n.3980A>G n.2652A>G c.1639A>G (p.Ile547Val) c.1366A>G (p.Ile456Val) c.1372A>G (p.Ile458Val) c.1375A>G (p.Ile459Val) c.1297A>G (p.Ile433Val) c.1291A>G (p.Ile431Val) c.1303A>G (p.Ile435Val) c.415A>G (p.Ile139Val) c.955A>G (p.Ile319Val) c.*686A>G (n.*686A>G) c.1294A>G (p.Ile432Val) n.2089A>G c.1693A>G (p.Ile565Val) c.1690A>G (p.Ile564Val) c.1699A>G (p.Ile567Val) c.1432A>G (p.Ile478Val) c.1354A>G (p.Ile452Val) c.1696A>G (p.Ile566Val) c.1351A>G (p.Ile451Val) c.1345A>G (p.Ile449Val) c.1429A>G (p.Ile477Val) c.1426A>G (p.Ile476Val) c.1423A>G (p.Ile475Val) c.469A>G (p.Ile157Val) n.2075A>G | ClinVar dbSNP COSMIC |
| 10 | g.121498528T>G | CA378321464 | FGFR2 | c.1642A>C (p.Ile548Leu) c.1633A>C (p.Ile545Leu) c.463A>C (p.Ile155Leu) n.981A>C c.1288A>C (p.Ile430Leu) n.459A>C c.*341A>C (n.*341A>C) n.3980A>C n.2652A>C c.1639A>C (p.Ile547Leu) c.1366A>C (p.Ile456Leu) c.1372A>C (p.Ile458Leu) c.1375A>C (p.Ile459Leu) c.1297A>C (p.Ile433Leu) c.1291A>C (p.Ile431Leu) c.1303A>C (p.Ile435Leu) c.415A>C (p.Ile139Leu) c.955A>C (p.Ile319Leu) c.*686A>C (n.*686A>C) c.1294A>C (p.Ile432Leu) n.2089A>C c.1693A>C (p.Ile565Leu) c.1690A>C (p.Ile564Leu) c.1699A>C (p.Ile567Leu) c.1432A>C (p.Ile478Leu) c.1354A>C (p.Ile452Leu) c.1696A>C (p.Ile566Leu) c.1351A>C (p.Ile451Leu) c.1345A>C (p.Ile449Leu) c.1429A>C (p.Ile477Leu) c.1426A>C (p.Ile476Leu) c.1423A>C (p.Ile475Leu) c.469A>C (p.Ile157Leu) n.2075A>C | |
| 10 | g.121498528T= | CA1941017706 | FGFR2 | c.1642A= (p.Ile548=) c.1633A= (p.Ile545=) c.463A= (p.Ile155=) n.981A= c.1288A= (p.Ile430=) n.459A= c.*341A= (n.*341A=) n.3980A= n.2652A= c.1639A= (p.Ile547=) c.1366A= (p.Ile456=) c.1372A= (p.Ile458=) c.1375A= (p.Ile459=) c.1297A= (p.Ile433=) c.1291A= (p.Ile431=) c.1303A= (p.Ile435=) c.415A= (p.Ile139=) c.955A= (p.Ile319=) c.*686A= (n.*686A=) c.1294A= (p.Ile432=) n.2089A= c.1693A= (p.Ile565=) c.1690A= (p.Ile564=) c.1699A= (p.Ile567=) c.1432A= (p.Ile478=) c.1354A= (p.Ile452=) c.1696A= (p.Ile566=) c.1351A= (p.Ile451=) c.1345A= (p.Ile449=) c.1429A= (p.Ile477=) c.1426A= (p.Ile476=) c.1423A= (p.Ile475=) c.469A= (p.Ile157=) n.2075A= | |
| 10 | g.121498529A>C | CA378321465 | FGFR2 | c.1641T>G (p.Asn547Lys) c.1632T>G (p.Asn544Lys) c.462T>G (p.Asn154Lys) n.980T>G c.1287T>G (p.Asn429Lys) n.458T>G c.*340T>G (n.*340T>G) n.3979T>G n.2651T>G c.1638T>G (p.Asn546Lys) c.1365T>G (p.Asn455Lys) c.1371T>G (p.Asn457Lys) c.1374T>G (p.Asn458Lys) c.1296T>G (p.Asn432Lys) c.1290T>G (p.Asn430Lys) c.1302T>G (p.Asn434Lys) c.414T>G (p.Asn138Lys) c.954T>G (p.Asn318Lys) c.*685T>G (n.*685T>G) c.1293T>G (p.Asn431Lys) n.2088T>G c.1692T>G (p.Asn564Lys) c.1689T>G (p.Asn563Lys) c.1698T>G (p.Asn566Lys) c.1431T>G (p.Asn477Lys) c.1353T>G (p.Asn451Lys) c.1695T>G (p.Asn565Lys) c.1350T>G (p.Asn450Lys) c.1344T>G (p.Asn448Lys) c.1428T>G (p.Asn476Lys) c.1425T>G (p.Asn475Lys) c.1422T>G (p.Asn474Lys) c.468T>G (p.Asn156Lys) n.2074T>G | dbSNP |
| 10 | g.121498529A>G | CA471649388 | FGFR2 | c.1641T>C (p.Asn547=) c.1632T>C (p.Asn544=) c.462T>C (p.Asn154=) n.980T>C c.1287T>C (p.Asn429=) n.458T>C c.*340T>C (n.*340T>C) n.3979T>C n.2651T>C c.1638T>C (p.Asn546=) c.1365T>C (p.Asn455=) c.1371T>C (p.Asn457=) c.1374T>C (p.Asn458=) c.1296T>C (p.Asn432=) c.1290T>C (p.Asn430=) c.1302T>C (p.Asn434=) c.414T>C (p.Asn138=) c.954T>C (p.Asn318=) c.*685T>C (n.*685T>C) c.1293T>C (p.Asn431=) n.2088T>C c.1692T>C (p.Asn564=) c.1689T>C (p.Asn563=) c.1698T>C (p.Asn566=) c.1431T>C (p.Asn477=) c.1353T>C (p.Asn451=) c.1695T>C (p.Asn565=) c.1350T>C (p.Asn450=) c.1344T>C (p.Asn448=) c.1428T>C (p.Asn476=) c.1425T>C (p.Asn475=) c.1422T>C (p.Asn474=) c.468T>C (p.Asn156=) n.2074T>C | |
| 10 | g.121498529A>T | CA378321466 | FGFR2 | c.1641T>A (p.Asn547Lys) c.1632T>A (p.Asn544Lys) c.462T>A (p.Asn154Lys) n.980T>A c.1287T>A (p.Asn429Lys) n.458T>A c.*340T>A (n.*340T>A) n.3979T>A n.2651T>A c.1638T>A (p.Asn546Lys) c.1365T>A (p.Asn455Lys) c.1371T>A (p.Asn457Lys) c.1374T>A (p.Asn458Lys) c.1296T>A (p.Asn432Lys) c.1290T>A (p.Asn430Lys) c.1302T>A (p.Asn434Lys) c.414T>A (p.Asn138Lys) c.954T>A (p.Asn318Lys) c.*685T>A (n.*685T>A) c.1293T>A (p.Asn431Lys) n.2088T>A c.1692T>A (p.Asn564Lys) c.1689T>A (p.Asn563Lys) c.1698T>A (p.Asn566Lys) c.1431T>A (p.Asn477Lys) c.1353T>A (p.Asn451Lys) c.1695T>A (p.Asn565Lys) c.1350T>A (p.Asn450Lys) c.1344T>A (p.Asn448Lys) c.1428T>A (p.Asn476Lys) c.1425T>A (p.Asn475Lys) c.1422T>A (p.Asn474Lys) c.468T>A (p.Asn156Lys) n.2074T>A | dbSNP |
| 10 | g.121498530T>A | CA378321467 | FGFR2 | c.1640A>T (p.Asn547Ile) c.1631A>T (p.Asn544Ile) c.461A>T (p.Asn154Ile) n.979A>T c.1286A>T (p.Asn429Ile) n.457A>T c.*339A>T (n.*339A>T) n.3978A>T n.2650A>T c.1637A>T (p.Asn546Ile) c.1364A>T (p.Asn455Ile) c.1370A>T (p.Asn457Ile) c.1373A>T (p.Asn458Ile) c.1295A>T (p.Asn432Ile) c.1289A>T (p.Asn430Ile) c.1301A>T (p.Asn434Ile) c.413A>T (p.Asn138Ile) c.953A>T (p.Asn318Ile) c.*684A>T (n.*684A>T) c.1292A>T (p.Asn431Ile) n.2087A>T c.1691A>T (p.Asn564Ile) c.1688A>T (p.Asn563Ile) c.1697A>T (p.Asn566Ile) c.1430A>T (p.Asn477Ile) c.1352A>T (p.Asn451Ile) c.1694A>T (p.Asn565Ile) c.1349A>T (p.Asn450Ile) c.1343A>T (p.Asn448Ile) c.1427A>T (p.Asn476Ile) c.1424A>T (p.Asn475Ile) c.1421A>T (p.Asn474Ile) c.467A>T (p.Asn156Ile) n.2073A>T | |
| 10 | g.121498530T>C | CA378321468 | FGFR2 | c.1640A>G (p.Asn547Ser) c.1631A>G (p.Asn544Ser) c.461A>G (p.Asn154Ser) n.979A>G c.1286A>G (p.Asn429Ser) n.457A>G c.*339A>G (n.*339A>G) n.3978A>G n.2650A>G c.1637A>G (p.Asn546Ser) c.1364A>G (p.Asn455Ser) c.1370A>G (p.Asn457Ser) c.1373A>G (p.Asn458Ser) c.1295A>G (p.Asn432Ser) c.1289A>G (p.Asn430Ser) c.1301A>G (p.Asn434Ser) c.413A>G (p.Asn138Ser) c.953A>G (p.Asn318Ser) c.*684A>G (n.*684A>G) c.1292A>G (p.Asn431Ser) n.2087A>G c.1691A>G (p.Asn564Ser) c.1688A>G (p.Asn563Ser) c.1697A>G (p.Asn566Ser) c.1430A>G (p.Asn477Ser) c.1352A>G (p.Asn451Ser) c.1694A>G (p.Asn565Ser) c.1349A>G (p.Asn450Ser) c.1343A>G (p.Asn448Ser) c.1427A>G (p.Asn476Ser) c.1424A>G (p.Asn475Ser) c.1421A>G (p.Asn474Ser) c.467A>G (p.Asn156Ser) n.2073A>G | |
| 10 | g.121498530T>G | CA5720689 | FGFR2 | c.1640A>C (p.Asn547Thr) c.1631A>C (p.Asn544Thr) c.461A>C (p.Asn154Thr) n.979A>C c.1286A>C (p.Asn429Thr) n.457A>C c.*339A>C (n.*339A>C) n.3978A>C n.2650A>C c.1637A>C (p.Asn546Thr) c.1364A>C (p.Asn455Thr) c.1370A>C (p.Asn457Thr) c.1373A>C (p.Asn458Thr) c.1295A>C (p.Asn432Thr) c.1289A>C (p.Asn430Thr) c.1301A>C (p.Asn434Thr) c.413A>C (p.Asn138Thr) c.953A>C (p.Asn318Thr) c.*684A>C (n.*684A>C) c.1292A>C (p.Asn431Thr) n.2087A>C c.1691A>C (p.Asn564Thr) c.1688A>C (p.Asn563Thr) c.1697A>C (p.Asn566Thr) c.1430A>C (p.Asn477Thr) c.1352A>C (p.Asn451Thr) c.1694A>C (p.Asn565Thr) c.1349A>C (p.Asn450Thr) c.1343A>C (p.Asn448Thr) c.1427A>C (p.Asn476Thr) c.1424A>C (p.Asn475Thr) c.1421A>C (p.Asn474Thr) c.467A>C (p.Asn156Thr) n.2073A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.121498530T= | CA1941017707 | FGFR2 | c.1640A= (p.Asn547=) c.1631A= (p.Asn544=) c.461A= (p.Asn154=) n.979A= c.1286A= (p.Asn429=) n.457A= c.*339A= (n.*339A=) n.3978A= n.2650A= c.1637A= (p.Asn546=) c.1364A= (p.Asn455=) c.1370A= (p.Asn457=) c.1373A= (p.Asn458=) c.1295A= (p.Asn432=) c.1289A= (p.Asn430=) c.1301A= (p.Asn434=) c.413A= (p.Asn138=) c.953A= (p.Asn318=) c.*684A= (n.*684A=) c.1292A= (p.Asn431=) n.2087A= c.1691A= (p.Asn564=) c.1688A= (p.Asn563=) c.1697A= (p.Asn566=) c.1430A= (p.Asn477=) c.1352A= (p.Asn451=) c.1694A= (p.Asn565=) c.1349A= (p.Asn450=) c.1343A= (p.Asn448=) c.1427A= (p.Asn476=) c.1424A= (p.Asn475=) c.1421A= (p.Asn474=) c.467A= (p.Asn156=) n.2073A= | |
| 10 | g.121498531T>A | CA378321469 | FGFR2 | c.1639A>T (p.Asn547Tyr) c.1630A>T (p.Asn544Tyr) c.460A>T (p.Asn154Tyr) n.978A>T c.1285A>T (p.Asn429Tyr) n.456A>T c.*338A>T (n.*338A>T) n.3977A>T n.2649A>T c.1636A>T (p.Asn546Tyr) c.1363A>T (p.Asn455Tyr) c.1369A>T (p.Asn457Tyr) c.1372A>T (p.Asn458Tyr) c.1294A>T (p.Asn432Tyr) c.1288A>T (p.Asn430Tyr) c.1300A>T (p.Asn434Tyr) c.412A>T (p.Asn138Tyr) c.952A>T (p.Asn318Tyr) c.*683A>T (n.*683A>T) c.1291A>T (p.Asn431Tyr) n.2086A>T c.1690A>T (p.Asn564Tyr) c.1687A>T (p.Asn563Tyr) c.1696A>T (p.Asn566Tyr) c.1429A>T (p.Asn477Tyr) c.1351A>T (p.Asn451Tyr) c.1693A>T (p.Asn565Tyr) c.1348A>T (p.Asn450Tyr) c.1342A>T (p.Asn448Tyr) c.1426A>T (p.Asn476Tyr) c.1423A>T (p.Asn475Tyr) c.1420A>T (p.Asn474Tyr) c.466A>T (p.Asn156Tyr) n.2072A>T | |
| 10 | g.121498531T>C | CA378321470 | FGFR2 | c.1639A>G (p.Asn547Asp) c.1630A>G (p.Asn544Asp) c.460A>G (p.Asn154Asp) n.978A>G c.1285A>G (p.Asn429Asp) n.456A>G c.*338A>G (n.*338A>G) n.3977A>G n.2649A>G c.1636A>G (p.Asn546Asp) c.1363A>G (p.Asn455Asp) c.1369A>G (p.Asn457Asp) c.1372A>G (p.Asn458Asp) c.1294A>G (p.Asn432Asp) c.1288A>G (p.Asn430Asp) c.1300A>G (p.Asn434Asp) c.412A>G (p.Asn138Asp) c.952A>G (p.Asn318Asp) c.*683A>G (n.*683A>G) c.1291A>G (p.Asn431Asp) n.2086A>G c.1690A>G (p.Asn564Asp) c.1687A>G (p.Asn563Asp) c.1696A>G (p.Asn566Asp) c.1429A>G (p.Asn477Asp) c.1351A>G (p.Asn451Asp) c.1693A>G (p.Asn565Asp) c.1348A>G (p.Asn450Asp) c.1342A>G (p.Asn448Asp) c.1426A>G (p.Asn476Asp) c.1423A>G (p.Asn475Asp) c.1420A>G (p.Asn474Asp) c.466A>G (p.Asn156Asp) n.2072A>G | |
| 10 | g.121498531T>G | CA378321471 | FGFR2 | c.1639A>C (p.Asn547His) c.1630A>C (p.Asn544His) c.460A>C (p.Asn154His) n.978A>C c.1285A>C (p.Asn429His) n.456A>C c.*338A>C (n.*338A>C) n.3977A>C n.2649A>C c.1636A>C (p.Asn546His) c.1363A>C (p.Asn455His) c.1369A>C (p.Asn457His) c.1372A>C (p.Asn458His) c.1294A>C (p.Asn432His) c.1288A>C (p.Asn430His) c.1300A>C (p.Asn434His) c.412A>C (p.Asn138His) c.952A>C (p.Asn318His) c.*683A>C (n.*683A>C) c.1291A>C (p.Asn431His) n.2086A>C c.1690A>C (p.Asn564His) c.1687A>C (p.Asn563His) c.1696A>C (p.Asn566His) c.1429A>C (p.Asn477His) c.1351A>C (p.Asn451His) c.1693A>C (p.Asn565His) c.1348A>C (p.Asn450His) c.1342A>C (p.Asn448His) c.1426A>C (p.Asn476His) c.1423A>C (p.Asn475His) c.1420A>C (p.Asn474His) c.466A>C (p.Asn156His) n.2072A>C | |
| 10 | g.121498532C>A | CA378321473 | FGFR2 | c.1638G>T (p.Lys546Asn) c.1629G>T (p.Lys543Asn) c.459G>T (p.Lys153Asn) n.977G>T c.1284G>T (p.Lys428Asn) n.455G>T c.*337G>T (n.*337G>T) n.3976G>T n.2648G>T c.1635G>T (p.Lys545Asn) c.1362G>T (p.Lys454Asn) c.1368G>T (p.Lys456Asn) c.1371G>T (p.Lys457Asn) c.1293G>T (p.Lys431Asn) c.1287G>T (p.Lys429Asn) c.1299G>T (p.Lys433Asn) c.411G>T (p.Lys137Asn) c.951G>T (p.Lys317Asn) c.*682G>T (n.*682G>T) c.1290G>T (p.Lys430Asn) n.2085G>T c.1689G>T (p.Lys563Asn) c.1686G>T (p.Lys562Asn) c.1695G>T (p.Lys565Asn) c.1428G>T (p.Lys476Asn) c.1350G>T (p.Lys450Asn) c.1692G>T (p.Lys564Asn) c.1347G>T (p.Lys449Asn) c.1341G>T (p.Lys447Asn) c.1425G>T (p.Lys475Asn) c.1422G>T (p.Lys474Asn) c.1419G>T (p.Lys473Asn) c.465G>T (p.Lys155Asn) n.2071G>T | |
| 10 | g.121498532C>G | CA378321472 | FGFR2 | c.1638G>C (p.Lys546Asn) c.1629G>C (p.Lys543Asn) c.459G>C (p.Lys153Asn) n.977G>C c.1284G>C (p.Lys428Asn) n.455G>C c.*337G>C (n.*337G>C) n.3976G>C n.2648G>C c.1635G>C (p.Lys545Asn) c.1362G>C (p.Lys454Asn) c.1368G>C (p.Lys456Asn) c.1371G>C (p.Lys457Asn) c.1293G>C (p.Lys431Asn) c.1287G>C (p.Lys429Asn) c.1299G>C (p.Lys433Asn) c.411G>C (p.Lys137Asn) c.951G>C (p.Lys317Asn) c.*682G>C (n.*682G>C) c.1290G>C (p.Lys430Asn) n.2085G>C c.1689G>C (p.Lys563Asn) c.1686G>C (p.Lys562Asn) c.1695G>C (p.Lys565Asn) c.1428G>C (p.Lys476Asn) c.1350G>C (p.Lys450Asn) c.1692G>C (p.Lys564Asn) c.1347G>C (p.Lys449Asn) c.1341G>C (p.Lys447Asn) c.1425G>C (p.Lys475Asn) c.1422G>C (p.Lys474Asn) c.1419G>C (p.Lys473Asn) c.465G>C (p.Lys155Asn) n.2071G>C | dbSNP |
| 10 | g.121498532C>T | CA471649393 | FGFR2 | c.1638G>A (p.Lys546=) c.1629G>A (p.Lys543=) c.459G>A (p.Lys153=) n.977G>A c.1284G>A (p.Lys428=) n.455G>A c.*337G>A (n.*337G>A) n.3976G>A n.2648G>A c.1635G>A (p.Lys545=) c.1362G>A (p.Lys454=) c.1368G>A (p.Lys456=) c.1371G>A (p.Lys457=) c.1293G>A (p.Lys431=) c.1287G>A (p.Lys429=) c.1299G>A (p.Lys433=) c.411G>A (p.Lys137=) c.951G>A (p.Lys317=) c.*682G>A (n.*682G>A) c.1290G>A (p.Lys430=) n.2085G>A c.1689G>A (p.Lys563=) c.1686G>A (p.Lys562=) c.1695G>A (p.Lys565=) c.1428G>A (p.Lys476=) c.1350G>A (p.Lys450=) c.1692G>A (p.Lys564=) c.1347G>A (p.Lys449=) c.1341G>A (p.Lys447=) c.1425G>A (p.Lys475=) c.1422G>A (p.Lys474=) c.1419G>A (p.Lys473=) c.465G>A (p.Lys155=) n.2071G>A | dbSNP |
| 10 | g.121498533T>A | CA378321474 | FGFR2 | c.1637A>T (p.Lys546Met) c.1628A>T (p.Lys543Met) c.458A>T (p.Lys153Met) n.976A>T c.1283A>T (p.Lys428Met) n.454A>T c.*336A>T (n.*336A>T) n.3975A>T n.2647A>T c.1634A>T (p.Lys545Met) c.1361A>T (p.Lys454Met) c.1367A>T (p.Lys456Met) c.1370A>T (p.Lys457Met) c.1292A>T (p.Lys431Met) c.1286A>T (p.Lys429Met) c.1298A>T (p.Lys433Met) c.410A>T (p.Lys137Met) c.950A>T (p.Lys317Met) c.*681A>T (n.*681A>T) c.1289A>T (p.Lys430Met) n.2084A>T c.1688A>T (p.Lys563Met) c.1685A>T (p.Lys562Met) c.1694A>T (p.Lys565Met) c.1427A>T (p.Lys476Met) c.1349A>T (p.Lys450Met) c.1691A>T (p.Lys564Met) c.1346A>T (p.Lys449Met) c.1340A>T (p.Lys447Met) c.1424A>T (p.Lys475Met) c.1421A>T (p.Lys474Met) c.1418A>T (p.Lys473Met) c.464A>T (p.Lys155Met) n.2070A>T | |
| 10 | g.121498533T>C | CA378321476 | FGFR2 | c.1637A>G (p.Lys546Arg) c.1628A>G (p.Lys543Arg) c.458A>G (p.Lys153Arg) n.976A>G c.1283A>G (p.Lys428Arg) n.454A>G c.*336A>G (n.*336A>G) n.3975A>G n.2647A>G c.1634A>G (p.Lys545Arg) c.1361A>G (p.Lys454Arg) c.1367A>G (p.Lys456Arg) c.1370A>G (p.Lys457Arg) c.1292A>G (p.Lys431Arg) c.1286A>G (p.Lys429Arg) c.1298A>G (p.Lys433Arg) c.410A>G (p.Lys137Arg) c.950A>G (p.Lys317Arg) c.*681A>G (n.*681A>G) c.1289A>G (p.Lys430Arg) n.2084A>G c.1688A>G (p.Lys563Arg) c.1685A>G (p.Lys562Arg) c.1694A>G (p.Lys565Arg) c.1427A>G (p.Lys476Arg) c.1349A>G (p.Lys450Arg) c.1691A>G (p.Lys564Arg) c.1346A>G (p.Lys449Arg) c.1340A>G (p.Lys447Arg) c.1424A>G (p.Lys475Arg) c.1421A>G (p.Lys474Arg) c.1418A>G (p.Lys473Arg) c.464A>G (p.Lys155Arg) n.2070A>G | |
| 10 | g.121498533T>G | CA378321475 | FGFR2 | c.1637A>C (p.Lys546Thr) c.1628A>C (p.Lys543Thr) c.458A>C (p.Lys153Thr) n.976A>C c.1283A>C (p.Lys428Thr) n.454A>C c.*336A>C (n.*336A>C) n.3975A>C n.2647A>C c.1634A>C (p.Lys545Thr) c.1361A>C (p.Lys454Thr) c.1367A>C (p.Lys456Thr) c.1370A>C (p.Lys457Thr) c.1292A>C (p.Lys431Thr) c.1286A>C (p.Lys429Thr) c.1298A>C (p.Lys433Thr) c.410A>C (p.Lys137Thr) c.950A>C (p.Lys317Thr) c.*681A>C (n.*681A>C) c.1289A>C (p.Lys430Thr) n.2084A>C c.1688A>C (p.Lys563Thr) c.1685A>C (p.Lys562Thr) c.1694A>C (p.Lys565Thr) c.1427A>C (p.Lys476Thr) c.1349A>C (p.Lys450Thr) c.1691A>C (p.Lys564Thr) c.1346A>C (p.Lys449Thr) c.1340A>C (p.Lys447Thr) c.1424A>C (p.Lys475Thr) c.1421A>C (p.Lys474Thr) c.1418A>C (p.Lys473Thr) c.464A>C (p.Lys155Thr) n.2070A>C | |
| 10 | g.121498534T>A | CA378321477 | FGFR2 | c.1636A>T (p.Lys546Ter) c.1627A>T (p.Lys543Ter) c.457A>T (p.Lys153Ter) n.975A>T c.1282A>T (p.Lys428Ter) n.453A>T c.*335A>T (n.*335A>T) n.3974A>T n.2646A>T c.1633A>T (p.Lys545Ter) c.1360A>T (p.Lys454Ter) c.1366A>T (p.Lys456Ter) c.1369A>T (p.Lys457Ter) c.1291A>T (p.Lys431Ter) c.1285A>T (p.Lys429Ter) c.1297A>T (p.Lys433Ter) c.409A>T (p.Lys137Ter) c.949A>T (p.Lys317Ter) c.*680A>T (n.*680A>T) c.1288A>T (p.Lys430Ter) n.2083A>T c.1687A>T (p.Lys563Ter) c.1684A>T (p.Lys562Ter) c.1693A>T (p.Lys565Ter) c.1426A>T (p.Lys476Ter) c.1348A>T (p.Lys450Ter) c.1690A>T (p.Lys564Ter) c.1345A>T (p.Lys449Ter) c.1339A>T (p.Lys447Ter) c.1423A>T (p.Lys475Ter) c.1420A>T (p.Lys474Ter) c.1417A>T (p.Lys473Ter) c.463A>T (p.Lys155Ter) n.2069A>T | |
| 10 | g.121498534T>C | CA378321479 | FGFR2 | c.1636A>G (p.Lys546Glu) c.1627A>G (p.Lys543Glu) c.457A>G (p.Lys153Glu) n.975A>G c.1282A>G (p.Lys428Glu) n.453A>G c.*335A>G (n.*335A>G) n.3974A>G n.2646A>G c.1633A>G (p.Lys545Glu) c.1360A>G (p.Lys454Glu) c.1366A>G (p.Lys456Glu) c.1369A>G (p.Lys457Glu) c.1291A>G (p.Lys431Glu) c.1285A>G (p.Lys429Glu) c.1297A>G (p.Lys433Glu) c.409A>G (p.Lys137Glu) c.949A>G (p.Lys317Glu) c.*680A>G (n.*680A>G) c.1288A>G (p.Lys430Glu) n.2083A>G c.1687A>G (p.Lys563Glu) c.1684A>G (p.Lys562Glu) c.1693A>G (p.Lys565Glu) c.1426A>G (p.Lys476Glu) c.1348A>G (p.Lys450Glu) c.1690A>G (p.Lys564Glu) c.1345A>G (p.Lys449Glu) c.1339A>G (p.Lys447Glu) c.1423A>G (p.Lys475Glu) c.1420A>G (p.Lys474Glu) c.1417A>G (p.Lys473Glu) c.463A>G (p.Lys155Glu) n.2069A>G | dbSNP |
| 10 | g.121498534T>G | CA378321478 | FGFR2 | c.1636A>C (p.Lys546Gln) c.1627A>C (p.Lys543Gln) c.457A>C (p.Lys153Gln) n.975A>C c.1282A>C (p.Lys428Gln) n.453A>C c.*335A>C (n.*335A>C) n.3974A>C n.2646A>C c.1633A>C (p.Lys545Gln) c.1360A>C (p.Lys454Gln) c.1366A>C (p.Lys456Gln) c.1369A>C (p.Lys457Gln) c.1291A>C (p.Lys431Gln) c.1285A>C (p.Lys429Gln) c.1297A>C (p.Lys433Gln) c.409A>C (p.Lys137Gln) c.949A>C (p.Lys317Gln) c.*680A>C (n.*680A>C) c.1288A>C (p.Lys430Gln) n.2083A>C c.1687A>C (p.Lys563Gln) c.1684A>C (p.Lys562Gln) c.1693A>C (p.Lys565Gln) c.1426A>C (p.Lys476Gln) c.1348A>C (p.Lys450Gln) c.1690A>C (p.Lys564Gln) c.1345A>C (p.Lys449Gln) c.1339A>C (p.Lys447Gln) c.1423A>C (p.Lys475Gln) c.1420A>C (p.Lys474Gln) c.1417A>C (p.Lys473Gln) c.463A>C (p.Lys155Gln) n.2069A>C | |
| 10 | g.121498535G>A | CA471649395 | FGFR2 | c.1635C>T (p.His545=) c.1626C>T (p.His542=) c.456C>T (p.His152=) n.974C>T c.1281C>T (p.His427=) n.452C>T c.*334C>T (n.*334C>T) n.3973C>T n.2645C>T c.1632C>T (p.His544=) c.1359C>T (p.His453=) c.1365C>T (p.His455=) c.1368C>T (p.His456=) c.1290C>T (p.His430=) c.1284C>T (p.His428=) c.1296C>T (p.His432=) c.408C>T (p.His136=) c.948C>T (p.His316=) c.*679C>T (n.*679C>T) c.1287C>T (p.His429=) n.2082C>T c.1686C>T (p.His562=) c.1683C>T (p.His561=) c.1692C>T (p.His564=) c.1425C>T (p.His475=) c.1347C>T (p.His449=) c.1689C>T (p.His563=) c.1344C>T (p.His448=) c.1338C>T (p.His446=) c.1422C>T (p.His474=) c.1419C>T (p.His473=) c.1416C>T (p.His472=) c.462C>T (p.His154=) n.2068C>T | |
| 10 | g.121498535G>C | CA378321480 | FGFR2 | c.1635C>G (p.His545Gln) c.1626C>G (p.His542Gln) c.456C>G (p.His152Gln) n.974C>G c.1281C>G (p.His427Gln) n.452C>G c.*334C>G (n.*334C>G) n.3973C>G n.2645C>G c.1632C>G (p.His544Gln) c.1359C>G (p.His453Gln) c.1365C>G (p.His455Gln) c.1368C>G (p.His456Gln) c.1290C>G (p.His430Gln) c.1284C>G (p.His428Gln) c.1296C>G (p.His432Gln) c.408C>G (p.His136Gln) c.948C>G (p.His316Gln) c.*679C>G (n.*679C>G) c.1287C>G (p.His429Gln) n.2082C>G c.1686C>G (p.His562Gln) c.1683C>G (p.His561Gln) c.1692C>G (p.His564Gln) c.1425C>G (p.His475Gln) c.1347C>G (p.His449Gln) c.1689C>G (p.His563Gln) c.1344C>G (p.His448Gln) c.1338C>G (p.His446Gln) c.1422C>G (p.His474Gln) c.1419C>G (p.His473Gln) c.1416C>G (p.His472Gln) c.462C>G (p.His154Gln) n.2068C>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 10 | g.121498535G>T | CA378321481 | FGFR2 | c.1635C>A (p.His545Gln) c.1626C>A (p.His542Gln) c.456C>A (p.His152Gln) n.974C>A c.1281C>A (p.His427Gln) n.452C>A c.*334C>A (n.*334C>A) n.3973C>A n.2645C>A c.1632C>A (p.His544Gln) c.1359C>A (p.His453Gln) c.1365C>A (p.His455Gln) c.1368C>A (p.His456Gln) c.1290C>A (p.His430Gln) c.1284C>A (p.His428Gln) c.1296C>A (p.His432Gln) c.408C>A (p.His136Gln) c.948C>A (p.His316Gln) c.*679C>A (n.*679C>A) c.1287C>A (p.His429Gln) n.2082C>A c.1686C>A (p.His562Gln) c.1683C>A (p.His561Gln) c.1692C>A (p.His564Gln) c.1425C>A (p.His475Gln) c.1347C>A (p.His449Gln) c.1689C>A (p.His563Gln) c.1344C>A (p.His448Gln) c.1338C>A (p.His446Gln) c.1422C>A (p.His474Gln) c.1419C>A (p.His473Gln) c.1416C>A (p.His472Gln) c.462C>A (p.His154Gln) n.2068C>A | dbSNP gnomAD v4 COSMIC |
| 10 | g.121498536T>A | CA378321482 | FGFR2 | c.1634A>T (p.His545Leu) c.1625A>T (p.His542Leu) c.455A>T (p.His152Leu) n.973A>T c.1280A>T (p.His427Leu) n.451A>T c.*333A>T (n.*333A>T) n.3972A>T n.2644A>T c.1631A>T (p.His544Leu) c.1358A>T (p.His453Leu) c.1364A>T (p.His455Leu) c.1367A>T (p.His456Leu) c.1289A>T (p.His430Leu) c.1283A>T (p.His428Leu) c.1295A>T (p.His432Leu) c.407A>T (p.His136Leu) c.947A>T (p.His316Leu) c.*678A>T (n.*678A>T) c.1286A>T (p.His429Leu) n.2081A>T c.1685A>T (p.His562Leu) c.1682A>T (p.His561Leu) c.1691A>T (p.His564Leu) c.1424A>T (p.His475Leu) c.1346A>T (p.His449Leu) c.1688A>T (p.His563Leu) c.1343A>T (p.His448Leu) c.1337A>T (p.His446Leu) c.1421A>T (p.His474Leu) c.1418A>T (p.His473Leu) c.1415A>T (p.His472Leu) c.461A>T (p.His154Leu) n.2067A>T | |
| 10 | g.121498536T>C | CA378321484 | FGFR2 | c.1634A>G (p.His545Arg) c.1625A>G (p.His542Arg) c.455A>G (p.His152Arg) n.973A>G c.1280A>G (p.His427Arg) n.451A>G c.*333A>G (n.*333A>G) n.3972A>G n.2644A>G c.1631A>G (p.His544Arg) c.1358A>G (p.His453Arg) c.1364A>G (p.His455Arg) c.1367A>G (p.His456Arg) c.1289A>G (p.His430Arg) c.1283A>G (p.His428Arg) c.1295A>G (p.His432Arg) c.407A>G (p.His136Arg) c.947A>G (p.His316Arg) c.*678A>G (n.*678A>G) c.1286A>G (p.His429Arg) n.2081A>G c.1685A>G (p.His562Arg) c.1682A>G (p.His561Arg) c.1691A>G (p.His564Arg) c.1424A>G (p.His475Arg) c.1346A>G (p.His449Arg) c.1688A>G (p.His563Arg) c.1343A>G (p.His448Arg) c.1337A>G (p.His446Arg) c.1421A>G (p.His474Arg) c.1418A>G (p.His473Arg) c.1415A>G (p.His472Arg) c.461A>G (p.His154Arg) n.2067A>G | |
| 10 | g.121498536T>G | CA378321483 | FGFR2 | c.1634A>C (p.His545Pro) c.1625A>C (p.His542Pro) c.455A>C (p.His152Pro) n.973A>C c.1280A>C (p.His427Pro) n.451A>C c.*333A>C (n.*333A>C) n.3972A>C n.2644A>C c.1631A>C (p.His544Pro) c.1358A>C (p.His453Pro) c.1364A>C (p.His455Pro) c.1367A>C (p.His456Pro) c.1289A>C (p.His430Pro) c.1283A>C (p.His428Pro) c.1295A>C (p.His432Pro) c.407A>C (p.His136Pro) c.947A>C (p.His316Pro) c.*678A>C (n.*678A>C) c.1286A>C (p.His429Pro) n.2081A>C c.1685A>C (p.His562Pro) c.1682A>C (p.His561Pro) c.1691A>C (p.His564Pro) c.1424A>C (p.His475Pro) c.1346A>C (p.His449Pro) c.1688A>C (p.His563Pro) c.1343A>C (p.His448Pro) c.1337A>C (p.His446Pro) c.1421A>C (p.His474Pro) c.1418A>C (p.His473Pro) c.1415A>C (p.His472Pro) c.461A>C (p.His154Pro) n.2067A>C | |
| 10 | g.121498537G>A | CA378321485 | FGFR2 | c.1633C>T (p.His545Tyr) c.1624C>T (p.His542Tyr) c.454C>T (p.His152Tyr) n.972C>T c.1279C>T (p.His427Tyr) n.450C>T c.*332C>T (n.*332C>T) n.3971C>T n.2643C>T c.1630C>T (p.His544Tyr) c.1357C>T (p.His453Tyr) c.1363C>T (p.His455Tyr) c.1366C>T (p.His456Tyr) c.1288C>T (p.His430Tyr) c.1282C>T (p.His428Tyr) c.1294C>T (p.His432Tyr) c.406C>T (p.His136Tyr) c.946C>T (p.His316Tyr) c.*677C>T (n.*677C>T) c.1285C>T (p.His429Tyr) n.2080C>T c.1684C>T (p.His562Tyr) c.1681C>T (p.His561Tyr) c.1690C>T (p.His564Tyr) c.1423C>T (p.His475Tyr) c.1345C>T (p.His449Tyr) c.1687C>T (p.His563Tyr) c.1342C>T (p.His448Tyr) c.1336C>T (p.His446Tyr) c.1420C>T (p.His474Tyr) c.1417C>T (p.His473Tyr) c.1414C>T (p.His472Tyr) c.460C>T (p.His154Tyr) n.2066C>T | dbSNP |
| 10 | g.121498537G>C | CA378321486 | FGFR2 | c.1633C>G (p.His545Asp) c.1624C>G (p.His542Asp) c.454C>G (p.His152Asp) n.972C>G c.1279C>G (p.His427Asp) n.450C>G c.*332C>G (n.*332C>G) n.3971C>G n.2643C>G c.1630C>G (p.His544Asp) c.1357C>G (p.His453Asp) c.1363C>G (p.His455Asp) c.1366C>G (p.His456Asp) c.1288C>G (p.His430Asp) c.1282C>G (p.His428Asp) c.1294C>G (p.His432Asp) c.406C>G (p.His136Asp) c.946C>G (p.His316Asp) c.*677C>G (n.*677C>G) c.1285C>G (p.His429Asp) n.2080C>G c.1684C>G (p.His562Asp) c.1681C>G (p.His561Asp) c.1690C>G (p.His564Asp) c.1423C>G (p.His475Asp) c.1345C>G (p.His449Asp) c.1687C>G (p.His563Asp) c.1342C>G (p.His448Asp) c.1336C>G (p.His446Asp) c.1420C>G (p.His474Asp) c.1417C>G (p.His473Asp) c.1414C>G (p.His472Asp) c.460C>G (p.His154Asp) n.2066C>G | dbSNP |
| 10 | g.121498537G>T | CA378321487 | FGFR2 | c.1633C>A (p.His545Asn) c.1624C>A (p.His542Asn) c.454C>A (p.His152Asn) n.972C>A c.1279C>A (p.His427Asn) n.450C>A c.*332C>A (n.*332C>A) n.3971C>A n.2643C>A c.1630C>A (p.His544Asn) c.1357C>A (p.His453Asn) c.1363C>A (p.His455Asn) c.1366C>A (p.His456Asn) c.1288C>A (p.His430Asn) c.1282C>A (p.His428Asn) c.1294C>A (p.His432Asn) c.406C>A (p.His136Asn) c.946C>A (p.His316Asn) c.*677C>A (n.*677C>A) c.1285C>A (p.His429Asn) n.2080C>A c.1684C>A (p.His562Asn) c.1681C>A (p.His561Asn) c.1690C>A (p.His564Asn) c.1423C>A (p.His475Asn) c.1345C>A (p.His449Asn) c.1687C>A (p.His563Asn) c.1342C>A (p.His448Asn) c.1336C>A (p.His446Asn) c.1420C>A (p.His474Asn) c.1417C>A (p.His473Asn) c.1414C>A (p.His472Asn) c.460C>A (p.His154Asn) n.2066C>A | |
| 10 | g.121498538T>A | CA378321488 | FGFR2 | c.1632A>T (p.Lys544Asn) c.1623A>T (p.Lys541Asn) c.453A>T (p.Lys151Asn) n.971A>T c.1278A>T (p.Lys426Asn) n.449A>T c.*331A>T (n.*331A>T) n.3970A>T n.2642A>T c.1629A>T (p.Lys543Asn) c.1356A>T (p.Lys452Asn) c.1362A>T (p.Lys454Asn) c.1365A>T (p.Lys455Asn) c.1287A>T (p.Lys429Asn) c.1281A>T (p.Lys427Asn) c.1293A>T (p.Lys431Asn) c.405A>T (p.Lys135Asn) c.945A>T (p.Lys315Asn) c.*676A>T (n.*676A>T) c.1284A>T (p.Lys428Asn) n.2079A>T c.1683A>T (p.Lys561Asn) c.1680A>T (p.Lys560Asn) c.1689A>T (p.Lys563Asn) c.1422A>T (p.Lys474Asn) c.1344A>T (p.Lys448Asn) c.1686A>T (p.Lys562Asn) c.1341A>T (p.Lys447Asn) c.1335A>T (p.Lys445Asn) c.1419A>T (p.Lys473Asn) c.1416A>T (p.Lys472Asn) c.1413A>T (p.Lys471Asn) c.459A>T (p.Lys153Asn) n.2065A>T | |
| 10 | g.121498538T>C | CA471649400 | FGFR2 | c.1632A>G (p.Lys544=) c.1623A>G (p.Lys541=) c.453A>G (p.Lys151=) n.971A>G c.1278A>G (p.Lys426=) n.449A>G c.*331A>G (n.*331A>G) n.3970A>G n.2642A>G c.1629A>G (p.Lys543=) c.1356A>G (p.Lys452=) c.1362A>G (p.Lys454=) c.1365A>G (p.Lys455=) c.1287A>G (p.Lys429=) c.1281A>G (p.Lys427=) c.1293A>G (p.Lys431=) c.405A>G (p.Lys135=) c.945A>G (p.Lys315=) c.*676A>G (n.*676A>G) c.1284A>G (p.Lys428=) n.2079A>G c.1683A>G (p.Lys561=) c.1680A>G (p.Lys560=) c.1689A>G (p.Lys563=) c.1422A>G (p.Lys474=) c.1344A>G (p.Lys448=) c.1686A>G (p.Lys562=) c.1341A>G (p.Lys447=) c.1335A>G (p.Lys445=) c.1419A>G (p.Lys473=) c.1416A>G (p.Lys472=) c.1413A>G (p.Lys471=) c.459A>G (p.Lys153=) n.2065A>G | |
| 10 | g.121498538T>G | CA378321489 | FGFR2 | c.1632A>C (p.Lys544Asn) c.1623A>C (p.Lys541Asn) c.453A>C (p.Lys151Asn) n.971A>C c.1278A>C (p.Lys426Asn) n.449A>C c.*331A>C (n.*331A>C) n.3970A>C n.2642A>C c.1629A>C (p.Lys543Asn) c.1356A>C (p.Lys452Asn) c.1362A>C (p.Lys454Asn) c.1365A>C (p.Lys455Asn) c.1287A>C (p.Lys429Asn) c.1281A>C (p.Lys427Asn) c.1293A>C (p.Lys431Asn) c.405A>C (p.Lys135Asn) c.945A>C (p.Lys315Asn) c.*676A>C (n.*676A>C) c.1284A>C (p.Lys428Asn) n.2079A>C c.1683A>C (p.Lys561Asn) c.1680A>C (p.Lys560Asn) c.1689A>C (p.Lys563Asn) c.1422A>C (p.Lys474Asn) c.1344A>C (p.Lys448Asn) c.1686A>C (p.Lys562Asn) c.1341A>C (p.Lys447Asn) c.1335A>C (p.Lys445Asn) c.1419A>C (p.Lys473Asn) c.1416A>C (p.Lys472Asn) c.1413A>C (p.Lys471Asn) c.459A>C (p.Lys153Asn) n.2065A>C | |
| 10 | g.121498539T>A | CA378321490 | FGFR2 | c.1631A>T (p.Lys544Ile) c.1622A>T (p.Lys541Ile) c.452A>T (p.Lys151Ile) n.970A>T c.1277A>T (p.Lys426Ile) n.448A>T c.*330A>T (n.*330A>T) n.3969A>T n.2641A>T c.1628A>T (p.Lys543Ile) c.1355A>T (p.Lys452Ile) c.1361A>T (p.Lys454Ile) c.1364A>T (p.Lys455Ile) c.1286A>T (p.Lys429Ile) c.1280A>T (p.Lys427Ile) c.1292A>T (p.Lys431Ile) c.404A>T (p.Lys135Ile) c.944A>T (p.Lys315Ile) c.*675A>T (n.*675A>T) c.1283A>T (p.Lys428Ile) n.2078A>T c.1682A>T (p.Lys561Ile) c.1679A>T (p.Lys560Ile) c.1688A>T (p.Lys563Ile) c.1421A>T (p.Lys474Ile) c.1343A>T (p.Lys448Ile) c.1685A>T (p.Lys562Ile) c.1340A>T (p.Lys447Ile) c.1334A>T (p.Lys445Ile) c.1418A>T (p.Lys473Ile) c.1415A>T (p.Lys472Ile) c.1412A>T (p.Lys471Ile) c.458A>T (p.Lys153Ile) n.2064A>T | |
| 10 | g.121498539T>C | CA378321491 | FGFR2 | c.1631A>G (p.Lys544Arg) c.1622A>G (p.Lys541Arg) c.452A>G (p.Lys151Arg) n.970A>G c.1277A>G (p.Lys426Arg) n.448A>G c.*330A>G (n.*330A>G) n.3969A>G n.2641A>G c.1628A>G (p.Lys543Arg) c.1355A>G (p.Lys452Arg) c.1361A>G (p.Lys454Arg) c.1364A>G (p.Lys455Arg) c.1286A>G (p.Lys429Arg) c.1280A>G (p.Lys427Arg) c.1292A>G (p.Lys431Arg) c.404A>G (p.Lys135Arg) c.944A>G (p.Lys315Arg) c.*675A>G (n.*675A>G) c.1283A>G (p.Lys428Arg) n.2078A>G c.1682A>G (p.Lys561Arg) c.1679A>G (p.Lys560Arg) c.1688A>G (p.Lys563Arg) c.1421A>G (p.Lys474Arg) c.1343A>G (p.Lys448Arg) c.1685A>G (p.Lys562Arg) c.1340A>G (p.Lys447Arg) c.1334A>G (p.Lys445Arg) c.1418A>G (p.Lys473Arg) c.1415A>G (p.Lys472Arg) c.1412A>G (p.Lys471Arg) c.458A>G (p.Lys153Arg) n.2064A>G | |
| 10 | g.121498539T>G | CA378321492 | FGFR2 | c.1631A>C (p.Lys544Thr) c.1622A>C (p.Lys541Thr) c.452A>C (p.Lys151Thr) n.970A>C c.1277A>C (p.Lys426Thr) n.448A>C c.*330A>C (n.*330A>C) n.3969A>C n.2641A>C c.1628A>C (p.Lys543Thr) c.1355A>C (p.Lys452Thr) c.1361A>C (p.Lys454Thr) c.1364A>C (p.Lys455Thr) c.1286A>C (p.Lys429Thr) c.1280A>C (p.Lys427Thr) c.1292A>C (p.Lys431Thr) c.404A>C (p.Lys135Thr) c.944A>C (p.Lys315Thr) c.*675A>C (n.*675A>C) c.1283A>C (p.Lys428Thr) n.2078A>C c.1682A>C (p.Lys561Thr) c.1679A>C (p.Lys560Thr) c.1688A>C (p.Lys563Thr) c.1421A>C (p.Lys474Thr) c.1343A>C (p.Lys448Thr) c.1685A>C (p.Lys562Thr) c.1340A>C (p.Lys447Thr) c.1334A>C (p.Lys445Thr) c.1418A>C (p.Lys473Thr) c.1415A>C (p.Lys472Thr) c.1412A>C (p.Lys471Thr) c.458A>C (p.Lys153Thr) n.2064A>C | gnomAD v4 |
| 10 | g.121498540T>A | CA378321493 | FGFR2 | c.1630A>T (p.Lys544Ter) c.1621A>T (p.Lys541Ter) c.451A>T (p.Lys151Ter) n.969A>T c.1276A>T (p.Lys426Ter) n.447A>T c.*329A>T (n.*329A>T) n.3968A>T n.2640A>T c.1627A>T (p.Lys543Ter) c.1354A>T (p.Lys452Ter) c.1360A>T (p.Lys454Ter) c.1363A>T (p.Lys455Ter) c.1285A>T (p.Lys429Ter) c.1279A>T (p.Lys427Ter) c.1291A>T (p.Lys431Ter) c.403A>T (p.Lys135Ter) c.943A>T (p.Lys315Ter) c.*674A>T (n.*674A>T) c.1282A>T (p.Lys428Ter) n.2077A>T c.1681A>T (p.Lys561Ter) c.1678A>T (p.Lys560Ter) c.1687A>T (p.Lys563Ter) c.1420A>T (p.Lys474Ter) c.1342A>T (p.Lys448Ter) c.1684A>T (p.Lys562Ter) c.1339A>T (p.Lys447Ter) c.1333A>T (p.Lys445Ter) c.1417A>T (p.Lys473Ter) c.1414A>T (p.Lys472Ter) c.1411A>T (p.Lys471Ter) c.457A>T (p.Lys153Ter) n.2063A>T | |
| 10 | g.121498540T>C | CA378321494 | FGFR2 | c.1630A>G (p.Lys544Glu) c.1621A>G (p.Lys541Glu) c.451A>G (p.Lys151Glu) n.969A>G c.1276A>G (p.Lys426Glu) n.447A>G c.*329A>G (n.*329A>G) n.3968A>G n.2640A>G c.1627A>G (p.Lys543Glu) c.1354A>G (p.Lys452Glu) c.1360A>G (p.Lys454Glu) c.1363A>G (p.Lys455Glu) c.1285A>G (p.Lys429Glu) c.1279A>G (p.Lys427Glu) c.1291A>G (p.Lys431Glu) c.403A>G (p.Lys135Glu) c.943A>G (p.Lys315Glu) c.*674A>G (n.*674A>G) c.1282A>G (p.Lys428Glu) n.2077A>G c.1681A>G (p.Lys561Glu) c.1678A>G (p.Lys560Glu) c.1687A>G (p.Lys563Glu) c.1420A>G (p.Lys474Glu) c.1342A>G (p.Lys448Glu) c.1684A>G (p.Lys562Glu) c.1339A>G (p.Lys447Glu) c.1333A>G (p.Lys445Glu) c.1417A>G (p.Lys473Glu) c.1414A>G (p.Lys472Glu) c.1411A>G (p.Lys471Glu) c.457A>G (p.Lys153Glu) n.2063A>G | gnomAD v4 |
| 10 | g.121498540T>G | CA378321495 | FGFR2 | c.1630A>C (p.Lys544Gln) c.1621A>C (p.Lys541Gln) c.451A>C (p.Lys151Gln) n.969A>C c.1276A>C (p.Lys426Gln) n.447A>C c.*329A>C (n.*329A>C) n.3968A>C n.2640A>C c.1627A>C (p.Lys543Gln) c.1354A>C (p.Lys452Gln) c.1360A>C (p.Lys454Gln) c.1363A>C (p.Lys455Gln) c.1285A>C (p.Lys429Gln) c.1279A>C (p.Lys427Gln) c.1291A>C (p.Lys431Gln) c.403A>C (p.Lys135Gln) c.943A>C (p.Lys315Gln) c.*674A>C (n.*674A>C) c.1282A>C (p.Lys428Gln) n.2077A>C c.1681A>C (p.Lys561Gln) c.1678A>C (p.Lys560Gln) c.1687A>C (p.Lys563Gln) c.1420A>C (p.Lys474Gln) c.1342A>C (p.Lys448Gln) c.1684A>C (p.Lys562Gln) c.1339A>C (p.Lys447Gln) c.1333A>C (p.Lys445Gln) c.1417A>C (p.Lys473Gln) c.1414A>C (p.Lys472Gln) c.1411A>C (p.Lys471Gln) c.457A>C (p.Lys153Gln) n.2063A>C | dbSNP gnomAD v4 |
| 10 | g.121498540T= | CA1941017708 | FGFR2 | c.1630A= (p.Lys544=) c.1621A= (p.Lys541=) c.451A= (p.Lys151=) n.969A= c.1276A= (p.Lys426=) n.447A= c.*329A= (n.*329A=) n.3968A= n.2640A= c.1627A= (p.Lys543=) c.1354A= (p.Lys452=) c.1360A= (p.Lys454=) c.1363A= (p.Lys455=) c.1285A= (p.Lys429=) c.1279A= (p.Lys427=) c.1291A= (p.Lys431=) c.403A= (p.Lys135=) c.943A= (p.Lys315=) c.*674A= (n.*674A=) c.1282A= (p.Lys428=) n.2077A= c.1681A= (p.Lys561=) c.1678A= (p.Lys560=) c.1687A= (p.Lys563=) c.1420A= (p.Lys474=) c.1342A= (p.Lys448=) c.1684A= (p.Lys562=) c.1339A= (p.Lys447=) c.1333A= (p.Lys445=) c.1417A= (p.Lys473=) c.1414A= (p.Lys472=) c.1411A= (p.Lys471=) c.457A= (p.Lys153=) n.2063A= | |
| 10 | g.121498541C>A | CA471649404 | FGFR2 | c.1629G>T (p.Gly543=) c.1620G>T (p.Gly540=) c.450G>T (p.Gly150=) n.968G>T c.1275G>T (p.Gly425=) n.446G>T c.*328G>T (n.*328G>T) n.3967G>T n.2639G>T c.1626G>T (p.Gly542=) c.1353G>T (p.Gly451=) c.1359G>T (p.Gly453=) c.1362G>T (p.Gly454=) c.1284G>T (p.Gly428=) c.1278G>T (p.Gly426=) c.1290G>T (p.Gly430=) c.402G>T (p.Gly134=) c.942G>T (p.Gly314=) c.*673G>T (n.*673G>T) c.1281G>T (p.Gly427=) n.2076G>T c.1680G>T (p.Gly560=) c.1677G>T (p.Gly559=) c.1686G>T (p.Gly562=) c.1419G>T (p.Gly473=) c.1341G>T (p.Gly447=) c.1683G>T (p.Gly561=) c.1338G>T (p.Gly446=) c.1332G>T (p.Gly444=) c.1416G>T (p.Gly472=) c.1413G>T (p.Gly471=) c.1410G>T (p.Gly470=) c.456G>T (p.Gly152=) n.2062G>T | |
| 10 | g.121498541C>G | CA471649405 | FGFR2 | c.1629G>C (p.Gly543=) c.1620G>C (p.Gly540=) c.450G>C (p.Gly150=) n.968G>C c.1275G>C (p.Gly425=) n.446G>C c.*328G>C (n.*328G>C) n.3967G>C n.2639G>C c.1626G>C (p.Gly542=) c.1353G>C (p.Gly451=) c.1359G>C (p.Gly453=) c.1362G>C (p.Gly454=) c.1284G>C (p.Gly428=) c.1278G>C (p.Gly426=) c.1290G>C (p.Gly430=) c.402G>C (p.Gly134=) c.942G>C (p.Gly314=) c.*673G>C (n.*673G>C) c.1281G>C (p.Gly427=) n.2076G>C c.1680G>C (p.Gly560=) c.1677G>C (p.Gly559=) c.1686G>C (p.Gly562=) c.1419G>C (p.Gly473=) c.1341G>C (p.Gly447=) c.1683G>C (p.Gly561=) c.1338G>C (p.Gly446=) c.1332G>C (p.Gly444=) c.1416G>C (p.Gly472=) c.1413G>C (p.Gly471=) c.1410G>C (p.Gly470=) c.456G>C (p.Gly152=) n.2062G>C | dbSNP |
| 10 | g.121498541C>T | CA471649407 | FGFR2 | c.1629G>A (p.Gly543=) c.1620G>A (p.Gly540=) c.450G>A (p.Gly150=) n.968G>A c.1275G>A (p.Gly425=) n.446G>A c.*328G>A (n.*328G>A) n.3967G>A n.2639G>A c.1626G>A (p.Gly542=) c.1353G>A (p.Gly451=) c.1359G>A (p.Gly453=) c.1362G>A (p.Gly454=) c.1284G>A (p.Gly428=) c.1278G>A (p.Gly426=) c.1290G>A (p.Gly430=) c.402G>A (p.Gly134=) c.942G>A (p.Gly314=) c.*673G>A (n.*673G>A) c.1281G>A (p.Gly427=) n.2076G>A c.1680G>A (p.Gly560=) c.1677G>A (p.Gly559=) c.1686G>A (p.Gly562=) c.1419G>A (p.Gly473=) c.1341G>A (p.Gly447=) c.1683G>A (p.Gly561=) c.1338G>A (p.Gly446=) c.1332G>A (p.Gly444=) c.1416G>A (p.Gly472=) c.1413G>A (p.Gly471=) c.1410G>A (p.Gly470=) c.456G>A (p.Gly152=) n.2062G>A | dbSNP |
| 10 | g.121498543del | CA2722968612 | FGFR2 | c.1629del (p.Lys544AsnfsTer6) c.1620del (p.Lys541AsnfsTer6) c.450del (p.Lys151AsnfsTer6) n.968del c.1275del (p.Lys426AsnfsTer6) n.446del c.*328del (n.*328del) n.3967del n.2639del c.1626del (p.Lys543AsnfsTer6) c.1353del (p.Lys452AsnfsTer6) c.1359del (p.Lys454AsnfsTer6) c.1362del (p.Lys455AsnfsTer6) c.1284del (p.Lys429AsnfsTer6) c.1278del (p.Lys427AsnfsTer6) c.1290del (p.Lys431AsnfsTer6) c.402del (p.Lys135AsnfsTer6) c.942del (p.Lys315AsnfsTer6) c.*673del (n.*673del) c.1281del (p.Lys428AsnfsTer6) n.2076del c.1680del (p.Lys561AsnfsTer6) c.1677del (p.Lys560AsnfsTer6) c.1686del (p.Lys563AsnfsTer6) c.1419del (p.Lys474AsnfsTer6) c.1341del (p.Lys448AsnfsTer6) c.1683del (p.Lys562AsnfsTer6) c.1338del (p.Lys447AsnfsTer6) c.1332del (p.Lys445AsnfsTer6) c.1416del (p.Lys473AsnfsTer6) c.1413del (p.Lys472AsnfsTer6) c.1410del (p.Lys471AsnfsTer6) c.456del (p.Lys153AsnfsTer6) n.2062del | dbSNP |
| 10 | g.121498542C>A | CA378321498 | FGFR2 | c.1628G>T (p.Gly543Val) c.1619G>T (p.Gly540Val) c.449G>T (p.Gly150Val) n.967G>T c.1274G>T (p.Gly425Val) n.445G>T c.*327G>T (n.*327G>T) n.3966G>T n.2638G>T c.1625G>T (p.Gly542Val) c.1352G>T (p.Gly451Val) c.1358G>T (p.Gly453Val) c.1361G>T (p.Gly454Val) c.1283G>T (p.Gly428Val) c.1277G>T (p.Gly426Val) c.1289G>T (p.Gly430Val) c.401G>T (p.Gly134Val) c.941G>T (p.Gly314Val) c.*672G>T (n.*672G>T) c.1280G>T (p.Gly427Val) n.2075G>T c.1679G>T (p.Gly560Val) c.1676G>T (p.Gly559Val) c.1685G>T (p.Gly562Val) c.1418G>T (p.Gly473Val) c.1340G>T (p.Gly447Val) c.1682G>T (p.Gly561Val) c.1337G>T (p.Gly446Val) c.1331G>T (p.Gly444Val) c.1415G>T (p.Gly472Val) c.1412G>T (p.Gly471Val) c.1409G>T (p.Gly470Val) c.455G>T (p.Gly152Val) n.2061G>T | dbSNP |
| 10 | g.121498542C>G | CA378321496 | FGFR2 | c.1628G>C (p.Gly543Ala) c.1619G>C (p.Gly540Ala) c.449G>C (p.Gly150Ala) n.967G>C c.1274G>C (p.Gly425Ala) n.445G>C c.*327G>C (n.*327G>C) n.3966G>C n.2638G>C c.1625G>C (p.Gly542Ala) c.1352G>C (p.Gly451Ala) c.1358G>C (p.Gly453Ala) c.1361G>C (p.Gly454Ala) c.1283G>C (p.Gly428Ala) c.1277G>C (p.Gly426Ala) c.1289G>C (p.Gly430Ala) c.401G>C (p.Gly134Ala) c.941G>C (p.Gly314Ala) c.*672G>C (n.*672G>C) c.1280G>C (p.Gly427Ala) n.2075G>C c.1679G>C (p.Gly560Ala) c.1676G>C (p.Gly559Ala) c.1685G>C (p.Gly562Ala) c.1418G>C (p.Gly473Ala) c.1340G>C (p.Gly447Ala) c.1682G>C (p.Gly561Ala) c.1337G>C (p.Gly446Ala) c.1331G>C (p.Gly444Ala) c.1415G>C (p.Gly472Ala) c.1412G>C (p.Gly471Ala) c.1409G>C (p.Gly470Ala) c.455G>C (p.Gly152Ala) n.2061G>C | dbSNP |
| 10 | g.121498542C>T | CA378321497 | FGFR2 | c.1628G>A (p.Gly543Glu) c.1619G>A (p.Gly540Glu) c.449G>A (p.Gly150Glu) n.967G>A c.1274G>A (p.Gly425Glu) n.445G>A c.*327G>A (n.*327G>A) n.3966G>A n.2638G>A c.1625G>A (p.Gly542Glu) c.1352G>A (p.Gly451Glu) c.1358G>A (p.Gly453Glu) c.1361G>A (p.Gly454Glu) c.1283G>A (p.Gly428Glu) c.1277G>A (p.Gly426Glu) c.1289G>A (p.Gly430Glu) c.401G>A (p.Gly134Glu) c.941G>A (p.Gly314Glu) c.*672G>A (n.*672G>A) c.1280G>A (p.Gly427Glu) n.2075G>A c.1679G>A (p.Gly560Glu) c.1676G>A (p.Gly559Glu) c.1685G>A (p.Gly562Glu) c.1418G>A (p.Gly473Glu) c.1340G>A (p.Gly447Glu) c.1682G>A (p.Gly561Glu) c.1337G>A (p.Gly446Glu) c.1331G>A (p.Gly444Glu) c.1415G>A (p.Gly472Glu) c.1412G>A (p.Gly471Glu) c.1409G>A (p.Gly470Glu) c.455G>A (p.Gly152Glu) n.2061G>A | dbSNP |
| 10 | g.121498543C>A | CA378321499 | FGFR2 | c.1627G>T (p.Gly543Trp) c.1618G>T (p.Gly540Trp) c.448G>T (p.Gly150Trp) n.966G>T c.1273G>T (p.Gly425Trp) n.444G>T c.*326G>T (n.*326G>T) n.3965G>T n.2637G>T c.1624G>T (p.Gly542Trp) c.1351G>T (p.Gly451Trp) c.1357G>T (p.Gly453Trp) c.1360G>T (p.Gly454Trp) c.1282G>T (p.Gly428Trp) c.1276G>T (p.Gly426Trp) c.1288G>T (p.Gly430Trp) c.400G>T (p.Gly134Trp) c.940G>T (p.Gly314Trp) c.*671G>T (n.*671G>T) c.1279G>T (p.Gly427Trp) n.2074G>T c.1678G>T (p.Gly560Trp) c.1675G>T (p.Gly559Trp) c.1684G>T (p.Gly562Trp) c.1417G>T (p.Gly473Trp) c.1339G>T (p.Gly447Trp) c.1681G>T (p.Gly561Trp) c.1336G>T (p.Gly446Trp) c.1330G>T (p.Gly444Trp) c.1414G>T (p.Gly472Trp) c.1411G>T (p.Gly471Trp) c.1408G>T (p.Gly470Trp) c.454G>T (p.Gly152Trp) n.2060G>T | dbSNP |