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.121515200T>A | CA378327112 | FGFR2 | c.1207A>T (p.Asn403Tyr) c.1204A>T (p.Asn402Tyr) c.34A>T (p.Asn12Tyr) n.552A>T c.859A>T (p.Asn287Tyr) c.404-11259A>T (n.404-11259A>T) n.3551A>T c.937A>T (p.Asn313Tyr) c.1210A>T (p.Asn404Tyr) c.940A>T (p.Asn314Tyr) c.862A>T (p.Asn288Tyr) c.939+4779A>T (n.939+4779A>T) c.868A>T (p.Asn290Tyr) c.520A>T (p.Asn174Tyr) c.*251A>T (n.*251A>T) n.1654A>T c.1264A>T (p.Asn422Tyr) c.1261A>T (p.Asn421Tyr) c.997A>T (p.Asn333Tyr) c.919A>T (p.Asn307Tyr) c.916A>T (p.Asn306Tyr) c.994A>T (p.Asn332Tyr) n.1640A>T | dbSNP |
| 10 | g.121515200T>C | CA378327114 | FGFR2 | c.1207A>G (p.Asn403Asp) c.1204A>G (p.Asn402Asp) c.34A>G (p.Asn12Asp) n.552A>G c.859A>G (p.Asn287Asp) c.404-11259A>G (n.404-11259A>G) n.3551A>G c.937A>G (p.Asn313Asp) c.1210A>G (p.Asn404Asp) c.940A>G (p.Asn314Asp) c.862A>G (p.Asn288Asp) c.939+4779A>G (n.939+4779A>G) c.868A>G (p.Asn290Asp) c.520A>G (p.Asn174Asp) c.*251A>G (n.*251A>G) n.1654A>G c.1264A>G (p.Asn422Asp) c.1261A>G (p.Asn421Asp) c.997A>G (p.Asn333Asp) c.919A>G (p.Asn307Asp) c.916A>G (p.Asn306Asp) c.994A>G (p.Asn332Asp) n.1640A>G | dbSNP |
| 10 | g.121515200T>G | CA378327113 | FGFR2 | c.1207A>C (p.Asn403His) c.1204A>C (p.Asn402His) c.34A>C (p.Asn12His) n.552A>C c.859A>C (p.Asn287His) c.404-11259A>C (n.404-11259A>C) n.3551A>C c.937A>C (p.Asn313His) c.1210A>C (p.Asn404His) c.940A>C (p.Asn314His) c.862A>C (p.Asn288His) c.939+4779A>C (n.939+4779A>C) c.868A>C (p.Asn290His) c.520A>C (p.Asn174His) c.*251A>C (n.*251A>C) n.1654A>C c.1264A>C (p.Asn422His) c.1261A>C (p.Asn421His) c.997A>C (p.Asn333His) c.919A>C (p.Asn307His) c.916A>C (p.Asn306His) c.994A>C (p.Asn332His) n.1640A>C | |
| 10 | g.121515201C>A | CA378327115 | FGFR2 | c.1206G>T (p.Lys402Asn) c.1203G>T (p.Lys401Asn) c.33G>T (p.Lys11Asn) n.551G>T c.858G>T (p.Lys286Asn) c.404-11260G>T (n.404-11260G>T) n.3550G>T c.936G>T (p.Lys312Asn) c.1209G>T (p.Lys403Asn) c.939G>T (p.Lys313Asn) c.861G>T (p.Lys287Asn) c.939+4778G>T (n.939+4778G>T) c.867G>T (p.Lys289Asn) c.519G>T (p.Lys173Asn) c.*250G>T (n.*250G>T) n.1653G>T c.1263G>T (p.Lys421Asn) c.1260G>T (p.Lys420Asn) c.996G>T (p.Lys332Asn) c.918G>T (p.Lys306Asn) c.915G>T (p.Lys305Asn) c.993G>T (p.Lys331Asn) n.1639G>T | dbSNP |
| 10 | g.121515201C= | CA1941023704 | FGFR2 | c.1206G= (p.Lys402=) c.1203G= (p.Lys401=) c.33G= (p.Lys11=) n.551G= c.858G= (p.Lys286=) c.404-11260G= (n.404-11260G=) n.3550G= c.936G= (p.Lys312=) c.1209G= (p.Lys403=) c.939G= (p.Lys313=) c.861G= (p.Lys287=) c.939+4778G= (n.939+4778G=) c.867G= (p.Lys289=) c.519G= (p.Lys173=) c.*250G= (n.*250G=) n.1653G= c.1263G= (p.Lys421=) c.1260G= (p.Lys420=) c.996G= (p.Lys332=) c.918G= (p.Lys306=) c.915G= (p.Lys305=) c.993G= (p.Lys331=) n.1639G= | |
| 10 | g.121515201C>G | CA378327116 | FGFR2 | c.1206G>C (p.Lys402Asn) c.1203G>C (p.Lys401Asn) c.33G>C (p.Lys11Asn) n.551G>C c.858G>C (p.Lys286Asn) c.404-11260G>C (n.404-11260G>C) n.3550G>C c.936G>C (p.Lys312Asn) c.1209G>C (p.Lys403Asn) c.939G>C (p.Lys313Asn) c.861G>C (p.Lys287Asn) c.939+4778G>C (n.939+4778G>C) c.867G>C (p.Lys289Asn) c.519G>C (p.Lys173Asn) c.*250G>C (n.*250G>C) n.1653G>C c.1263G>C (p.Lys421Asn) c.1260G>C (p.Lys420Asn) c.996G>C (p.Lys332Asn) c.918G>C (p.Lys306Asn) c.915G>C (p.Lys305Asn) c.993G>C (p.Lys331Asn) n.1639G>C | dbSNP |
| 10 | g.121515201C>T | CA471651601 | FGFR2 | c.1206G>A (p.Lys402=) c.1203G>A (p.Lys401=) c.33G>A (p.Lys11=) n.551G>A c.858G>A (p.Lys286=) c.404-11260G>A (n.404-11260G>A) n.3550G>A c.936G>A (p.Lys312=) c.1209G>A (p.Lys403=) c.939G>A (p.Lys313=) c.861G>A (p.Lys287=) c.939+4778G>A (n.939+4778G>A) c.867G>A (p.Lys289=) c.519G>A (p.Lys173=) c.*250G>A (n.*250G>A) n.1653G>A c.1263G>A (p.Lys421=) c.1260G>A (p.Lys420=) c.996G>A (p.Lys332=) c.918G>A (p.Lys306=) c.915G>A (p.Lys305=) c.993G>A (p.Lys331=) n.1639G>A | dbSNP |
| 10 | g.121515202T>A | CA378327117 | FGFR2 | c.1205A>T (p.Lys402Met) c.1202A>T (p.Lys401Met) c.32A>T (p.Lys11Met) n.550A>T c.857A>T (p.Lys286Met) c.404-11261A>T (n.404-11261A>T) n.3549A>T c.935A>T (p.Lys312Met) c.1208A>T (p.Lys403Met) c.938A>T (p.Lys313Met) c.860A>T (p.Lys287Met) c.939+4777A>T (n.939+4777A>T) c.866A>T (p.Lys289Met) c.518A>T (p.Lys173Met) c.*249A>T (n.*249A>T) n.1652A>T c.1262A>T (p.Lys421Met) c.1259A>T (p.Lys420Met) c.995A>T (p.Lys332Met) c.917A>T (p.Lys306Met) c.914A>T (p.Lys305Met) c.992A>T (p.Lys331Met) n.1638A>T | dbSNP |
| 10 | g.121515202T>C | CA378327118 | FGFR2 | c.1205A>G (p.Lys402Arg) c.1202A>G (p.Lys401Arg) c.32A>G (p.Lys11Arg) n.550A>G c.857A>G (p.Lys286Arg) c.404-11261A>G (n.404-11261A>G) n.3549A>G c.935A>G (p.Lys312Arg) c.1208A>G (p.Lys403Arg) c.938A>G (p.Lys313Arg) c.860A>G (p.Lys287Arg) c.939+4777A>G (n.939+4777A>G) c.866A>G (p.Lys289Arg) c.518A>G (p.Lys173Arg) c.*249A>G (n.*249A>G) n.1652A>G c.1262A>G (p.Lys421Arg) c.1259A>G (p.Lys420Arg) c.995A>G (p.Lys332Arg) c.917A>G (p.Lys306Arg) c.914A>G (p.Lys305Arg) c.992A>G (p.Lys331Arg) n.1638A>G | dbSNP gnomAD v4 |
| 10 | g.121515202T>G | CA378327119 | FGFR2 | c.1205A>C (p.Lys402Thr) c.1202A>C (p.Lys401Thr) c.32A>C (p.Lys11Thr) n.550A>C c.857A>C (p.Lys286Thr) c.404-11261A>C (n.404-11261A>C) n.3549A>C c.935A>C (p.Lys312Thr) c.1208A>C (p.Lys403Thr) c.938A>C (p.Lys313Thr) c.860A>C (p.Lys287Thr) c.939+4777A>C (n.939+4777A>C) c.866A>C (p.Lys289Thr) c.518A>C (p.Lys173Thr) c.*249A>C (n.*249A>C) n.1652A>C c.1262A>C (p.Lys421Thr) c.1259A>C (p.Lys420Thr) c.995A>C (p.Lys332Thr) c.917A>C (p.Lys306Thr) c.914A>C (p.Lys305Thr) c.992A>C (p.Lys331Thr) n.1638A>C | |
| 10 | g.121515203T>A | CA378327120 | FGFR2 | c.1204A>T (p.Lys402Ter) c.1201A>T (p.Lys401Ter) c.31A>T (p.Lys11Ter) n.549A>T c.856A>T (p.Lys286Ter) c.404-11262A>T (n.404-11262A>T) n.3548A>T c.934A>T (p.Lys312Ter) c.1207A>T (p.Lys403Ter) c.937A>T (p.Lys313Ter) c.859A>T (p.Lys287Ter) c.939+4776A>T (n.939+4776A>T) c.865A>T (p.Lys289Ter) c.517A>T (p.Lys173Ter) c.*248A>T (n.*248A>T) n.1651A>T c.1261A>T (p.Lys421Ter) c.1258A>T (p.Lys420Ter) c.994A>T (p.Lys332Ter) c.916A>T (p.Lys306Ter) c.913A>T (p.Lys305Ter) c.991A>T (p.Lys331Ter) n.1637A>T | dbSNP |
| 10 | g.121515203T>C | CA378327121 | FGFR2 | c.1204A>G (p.Lys402Glu) c.1201A>G (p.Lys401Glu) c.31A>G (p.Lys11Glu) n.549A>G c.856A>G (p.Lys286Glu) c.404-11262A>G (n.404-11262A>G) n.3548A>G c.934A>G (p.Lys312Glu) c.1207A>G (p.Lys403Glu) c.937A>G (p.Lys313Glu) c.859A>G (p.Lys287Glu) c.939+4776A>G (n.939+4776A>G) c.865A>G (p.Lys289Glu) c.517A>G (p.Lys173Glu) c.*248A>G (n.*248A>G) n.1651A>G c.1261A>G (p.Lys421Glu) c.1258A>G (p.Lys420Glu) c.994A>G (p.Lys332Glu) c.916A>G (p.Lys306Glu) c.913A>G (p.Lys305Glu) c.991A>G (p.Lys331Glu) n.1637A>G | dbSNP |
| 10 | g.121515203T>G | CA378327122 | FGFR2 | c.1204A>C (p.Lys402Gln) c.1201A>C (p.Lys401Gln) c.31A>C (p.Lys11Gln) n.549A>C c.856A>C (p.Lys286Gln) c.404-11262A>C (n.404-11262A>C) n.3548A>C c.934A>C (p.Lys312Gln) c.1207A>C (p.Lys403Gln) c.937A>C (p.Lys313Gln) c.859A>C (p.Lys287Gln) c.939+4776A>C (n.939+4776A>C) c.865A>C (p.Lys289Gln) c.517A>C (p.Lys173Gln) c.*248A>C (n.*248A>C) n.1651A>C c.1261A>C (p.Lys421Gln) c.1258A>C (p.Lys420Gln) c.994A>C (p.Lys332Gln) c.916A>C (p.Lys306Gln) c.913A>C (p.Lys305Gln) c.991A>C (p.Lys331Gln) n.1637A>C | |
| 10 | g.121515204C>A | CA378327123 | FGFR2 | c.1203G>T (p.Met401Ile) c.1200G>T (p.Met400Ile) c.30G>T (p.Met10Ile) n.548G>T c.855G>T (p.Met285Ile) c.404-11263G>T (n.404-11263G>T) n.3547G>T c.933G>T (p.Met311Ile) c.1206G>T (p.Met402Ile) c.936G>T (p.Met312Ile) c.858G>T (p.Met286Ile) c.939+4775G>T (n.939+4775G>T) c.864G>T (p.Met288Ile) c.516G>T (p.Met172Ile) c.*247G>T (n.*247G>T) n.1650G>T c.1260G>T (p.Met420Ile) c.1257G>T (p.Met419Ile) c.993G>T (p.Met331Ile) c.915G>T (p.Met305Ile) c.912G>T (p.Met304Ile) c.990G>T (p.Met330Ile) n.1636G>T | dbSNP |
| 10 | g.121515204C= | CA1941023705 | FGFR2 | c.1203G= (p.Met401=) c.1200G= (p.Met400=) c.30G= (p.Met10=) n.548G= c.855G= (p.Met285=) c.404-11263G= (n.404-11263G=) n.3547G= c.933G= (p.Met311=) c.1206G= (p.Met402=) c.936G= (p.Met312=) c.858G= (p.Met286=) c.939+4775G= (n.939+4775G=) c.864G= (p.Met288=) c.516G= (p.Met172=) c.*247G= (n.*247G=) n.1650G= c.1260G= (p.Met420=) c.1257G= (p.Met419=) c.993G= (p.Met331=) c.915G= (p.Met305=) c.912G= (p.Met304=) c.990G= (p.Met330=) n.1636G= | |
| 10 | g.121515204C>G | CA378327124 | FGFR2 | c.1203G>C (p.Met401Ile) c.1200G>C (p.Met400Ile) c.30G>C (p.Met10Ile) n.548G>C c.855G>C (p.Met285Ile) c.404-11263G>C (n.404-11263G>C) n.3547G>C c.933G>C (p.Met311Ile) c.1206G>C (p.Met402Ile) c.936G>C (p.Met312Ile) c.858G>C (p.Met286Ile) c.939+4775G>C (n.939+4775G>C) c.864G>C (p.Met288Ile) c.516G>C (p.Met172Ile) c.*247G>C (n.*247G>C) n.1650G>C c.1260G>C (p.Met420Ile) c.1257G>C (p.Met419Ile) c.993G>C (p.Met331Ile) c.915G>C (p.Met305Ile) c.912G>C (p.Met304Ile) c.990G>C (p.Met330Ile) n.1636G>C | dbSNP |
| 10 | g.121515204C>T | CA378327125 | FGFR2 | c.1203G>A (p.Met401Ile) c.1200G>A (p.Met400Ile) c.30G>A (p.Met10Ile) n.548G>A c.855G>A (p.Met285Ile) c.404-11263G>A (n.404-11263G>A) n.3547G>A c.933G>A (p.Met311Ile) c.1206G>A (p.Met402Ile) c.936G>A (p.Met312Ile) c.858G>A (p.Met286Ile) c.939+4775G>A (n.939+4775G>A) c.864G>A (p.Met288Ile) c.516G>A (p.Met172Ile) c.*247G>A (n.*247G>A) n.1650G>A c.1260G>A (p.Met420Ile) c.1257G>A (p.Met419Ile) c.993G>A (p.Met331Ile) c.915G>A (p.Met305Ile) c.912G>A (p.Met304Ile) c.990G>A (p.Met330Ile) n.1636G>A | dbSNP |
| 10 | g.121515205A= | CA1941023706 | FGFR2 | c.1202T= (p.Met401=) c.1199T= (p.Met400=) c.29T= (p.Met10=) n.547T= c.854T= (p.Met285=) c.404-11264T= (n.404-11264T=) n.3546T= c.932T= (p.Met311=) c.1205T= (p.Met402=) c.935T= (p.Met312=) c.857T= (p.Met286=) c.939+4774T= (n.939+4774T=) c.863T= (p.Met288=) c.515T= (p.Met172=) c.*246T= (n.*246T=) n.1649T= c.1259T= (p.Met420=) c.1256T= (p.Met419=) c.992T= (p.Met331=) c.914T= (p.Met305=) c.911T= (p.Met304=) c.989T= (p.Met330=) n.1635T= | |
| 10 | g.121515205A>C | CA378327126 | FGFR2 | c.1202T>G (p.Met401Arg) c.1199T>G (p.Met400Arg) c.29T>G (p.Met10Arg) n.547T>G c.854T>G (p.Met285Arg) c.404-11264T>G (n.404-11264T>G) n.3546T>G c.932T>G (p.Met311Arg) c.1205T>G (p.Met402Arg) c.935T>G (p.Met312Arg) c.857T>G (p.Met286Arg) c.939+4774T>G (n.939+4774T>G) c.863T>G (p.Met288Arg) c.515T>G (p.Met172Arg) c.*246T>G (n.*246T>G) n.1649T>G c.1259T>G (p.Met420Arg) c.1256T>G (p.Met419Arg) c.992T>G (p.Met331Arg) c.914T>G (p.Met305Arg) c.911T>G (p.Met304Arg) c.989T>G (p.Met330Arg) n.1635T>G | dbSNP |
| 10 | g.121515205A>G | CA378327127 | FGFR2 | c.1202T>C (p.Met401Thr) c.1199T>C (p.Met400Thr) c.29T>C (p.Met10Thr) n.547T>C c.854T>C (p.Met285Thr) c.404-11264T>C (n.404-11264T>C) n.3546T>C c.932T>C (p.Met311Thr) c.1205T>C (p.Met402Thr) c.935T>C (p.Met312Thr) c.857T>C (p.Met286Thr) c.939+4774T>C (n.939+4774T>C) c.863T>C (p.Met288Thr) c.515T>C (p.Met172Thr) c.*246T>C (n.*246T>C) n.1649T>C c.1259T>C (p.Met420Thr) c.1256T>C (p.Met419Thr) c.992T>C (p.Met331Thr) c.914T>C (p.Met305Thr) c.911T>C (p.Met304Thr) c.989T>C (p.Met330Thr) n.1635T>C | dbSNP |
| 10 | g.121515205A>T | CA5720821 | FGFR2 | c.1202T>A (p.Met401Lys) c.1199T>A (p.Met400Lys) c.29T>A (p.Met10Lys) n.547T>A c.854T>A (p.Met285Lys) c.404-11264T>A (n.404-11264T>A) n.3546T>A c.932T>A (p.Met311Lys) c.1205T>A (p.Met402Lys) c.935T>A (p.Met312Lys) c.857T>A (p.Met286Lys) c.939+4774T>A (n.939+4774T>A) c.863T>A (p.Met288Lys) c.515T>A (p.Met172Lys) c.*246T>A (n.*246T>A) n.1649T>A c.1259T>A (p.Met420Lys) c.1256T>A (p.Met419Lys) c.992T>A (p.Met331Lys) c.914T>A (p.Met305Lys) c.911T>A (p.Met304Lys) c.989T>A (p.Met330Lys) n.1635T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.121515206T>A | CA378327128 | FGFR2 | c.1201A>T (p.Met401Leu) c.1198A>T (p.Met400Leu) c.28A>T (p.Met10Leu) n.546A>T c.853A>T (p.Met285Leu) c.404-11265A>T (n.404-11265A>T) n.3545A>T c.931A>T (p.Met311Leu) c.1204A>T (p.Met402Leu) c.934A>T (p.Met312Leu) c.856A>T (p.Met286Leu) c.939+4773A>T (n.939+4773A>T) c.862A>T (p.Met288Leu) c.514A>T (p.Met172Leu) c.*245A>T (n.*245A>T) n.1648A>T c.1258A>T (p.Met420Leu) c.1255A>T (p.Met419Leu) c.991A>T (p.Met331Leu) c.913A>T (p.Met305Leu) c.910A>T (p.Met304Leu) c.988A>T (p.Met330Leu) n.1634A>T | dbSNP |
| 10 | g.121515206T>C | CA378327130 | FGFR2 | c.1201A>G (p.Met401Val) c.1198A>G (p.Met400Val) c.28A>G (p.Met10Val) n.546A>G c.853A>G (p.Met285Val) c.404-11265A>G (n.404-11265A>G) n.3545A>G c.931A>G (p.Met311Val) c.1204A>G (p.Met402Val) c.934A>G (p.Met312Val) c.856A>G (p.Met286Val) c.939+4773A>G (n.939+4773A>G) c.862A>G (p.Met288Val) c.514A>G (p.Met172Val) c.*245A>G (n.*245A>G) n.1648A>G c.1258A>G (p.Met420Val) c.1255A>G (p.Met419Val) c.991A>G (p.Met331Val) c.913A>G (p.Met305Val) c.910A>G (p.Met304Val) c.988A>G (p.Met330Val) n.1634A>G | |
| 10 | g.121515206T>G | CA378327129 | FGFR2 | c.1201A>C (p.Met401Leu) c.1198A>C (p.Met400Leu) c.28A>C (p.Met10Leu) n.546A>C c.853A>C (p.Met285Leu) c.404-11265A>C (n.404-11265A>C) n.3545A>C c.931A>C (p.Met311Leu) c.1204A>C (p.Met402Leu) c.934A>C (p.Met312Leu) c.856A>C (p.Met286Leu) c.939+4773A>C (n.939+4773A>C) c.862A>C (p.Met288Leu) c.514A>C (p.Met172Leu) c.*245A>C (n.*245A>C) n.1648A>C c.1258A>C (p.Met420Leu) c.1255A>C (p.Met419Leu) c.991A>C (p.Met331Leu) c.913A>C (p.Met305Leu) c.910A>C (p.Met304Leu) c.988A>C (p.Met330Leu) n.1634A>C | |
| 10 | g.121515207del | CA2611198903 | FGFR2 | c.1201del (p.Met401Ter) c.1198del (p.Met400Ter) c.28del (p.Met10Ter) n.546del c.853del (p.Met285Ter) c.404-11265del (n.404-11265del) n.3545del c.931del (p.Met311Ter) c.1204del (p.Met402Ter) c.934del (p.Met312Ter) c.856del (p.Met286Ter) c.939+4773del (n.939+4773del) c.862del (p.Met288Ter) c.514del (p.Met172Ter) c.*245del (n.*245del) n.1648del c.1258del (p.Met420Ter) c.1255del (p.Met419Ter) c.991del (p.Met331Ter) c.913del (p.Met305Ter) c.910del (p.Met304Ter) c.988del (p.Met330Ter) n.1634del | gnomAD v4 |
| 10 | g.121515207T>A | CA471651618 | FGFR2 | c.1200A>T (p.Arg400=) c.1197A>T (p.Arg399=) c.27A>T (p.Arg9=) n.545A>T c.852A>T (p.Arg284=) c.404-11266A>T (n.404-11266A>T) n.3544A>T c.930A>T (p.Arg310=) c.1203A>T (p.Arg401=) c.933A>T (p.Arg311=) c.855A>T (p.Arg285=) c.939+4772A>T (n.939+4772A>T) c.861A>T (p.Arg287=) c.513A>T (p.Arg171=) c.*244A>T (n.*244A>T) n.1647A>T c.1257A>T (p.Arg419=) c.1254A>T (p.Arg418=) c.990A>T (p.Arg330=) c.912A>T (p.Arg304=) c.909A>T (p.Arg303=) c.987A>T (p.Arg329=) n.1633A>T | dbSNP |
| 10 | g.121515207T>C | CA471651617 | FGFR2 | c.1200A>G (p.Arg400=) c.1197A>G (p.Arg399=) c.27A>G (p.Arg9=) n.545A>G c.852A>G (p.Arg284=) c.404-11266A>G (n.404-11266A>G) n.3544A>G c.930A>G (p.Arg310=) c.1203A>G (p.Arg401=) c.933A>G (p.Arg311=) c.855A>G (p.Arg285=) c.939+4772A>G (n.939+4772A>G) c.861A>G (p.Arg287=) c.513A>G (p.Arg171=) c.*244A>G (n.*244A>G) n.1647A>G c.1257A>G (p.Arg419=) c.1254A>G (p.Arg418=) c.990A>G (p.Arg330=) c.912A>G (p.Arg304=) c.909A>G (p.Arg303=) c.987A>G (p.Arg329=) n.1633A>G | dbSNP |
| 10 | g.121515207T>G | CA471651621 | FGFR2 | c.1200A>C (p.Arg400=) c.1197A>C (p.Arg399=) c.27A>C (p.Arg9=) n.545A>C c.852A>C (p.Arg284=) c.404-11266A>C (n.404-11266A>C) n.3544A>C c.930A>C (p.Arg310=) c.1203A>C (p.Arg401=) c.933A>C (p.Arg311=) c.855A>C (p.Arg285=) c.939+4772A>C (n.939+4772A>C) c.861A>C (p.Arg287=) c.513A>C (p.Arg171=) c.*244A>C (n.*244A>C) n.1647A>C c.1257A>C (p.Arg419=) c.1254A>C (p.Arg418=) c.990A>C (p.Arg330=) c.912A>C (p.Arg304=) c.909A>C (p.Arg303=) c.987A>C (p.Arg329=) n.1633A>C | |
| 10 | g.121515208C>A | CA378327131 | FGFR2 | c.1199G>T (p.Arg400Leu) c.1196G>T (p.Arg399Leu) c.26G>T (p.Arg9Leu) n.544G>T c.851G>T (p.Arg284Leu) c.404-11267G>T (n.404-11267G>T) n.3543G>T c.929G>T (p.Arg310Leu) c.1202G>T (p.Arg401Leu) c.932G>T (p.Arg311Leu) c.854G>T (p.Arg285Leu) c.939+4771G>T (n.939+4771G>T) c.860G>T (p.Arg287Leu) c.512G>T (p.Arg171Leu) c.*243G>T (n.*243G>T) n.1646G>T c.1256G>T (p.Arg419Leu) c.1253G>T (p.Arg418Leu) c.989G>T (p.Arg330Leu) c.911G>T (p.Arg304Leu) c.908G>T (p.Arg303Leu) c.986G>T (p.Arg329Leu) n.1632G>T | dbSNP |
| 10 | g.121515208C= | CA1941023707 | FGFR2 | c.1199G= (p.Arg400=) c.1196G= (p.Arg399=) c.26G= (p.Arg9=) n.544G= c.851G= (p.Arg284=) c.404-11267G= (n.404-11267G=) n.3543G= c.929G= (p.Arg310=) c.1202G= (p.Arg401=) c.932G= (p.Arg311=) c.854G= (p.Arg285=) c.939+4771G= (n.939+4771G=) c.860G= (p.Arg287=) c.512G= (p.Arg171=) c.*243G= (n.*243G=) n.1646G= c.1256G= (p.Arg419=) c.1253G= (p.Arg418=) c.989G= (p.Arg330=) c.911G= (p.Arg304=) c.908G= (p.Arg303=) c.986G= (p.Arg329=) n.1632G= | |
| 10 | g.121515208C>G | CA378327133 | FGFR2 | c.1199G>C (p.Arg400Pro) c.1196G>C (p.Arg399Pro) c.26G>C (p.Arg9Pro) n.544G>C c.851G>C (p.Arg284Pro) c.404-11267G>C (n.404-11267G>C) n.3543G>C c.929G>C (p.Arg310Pro) c.1202G>C (p.Arg401Pro) c.932G>C (p.Arg311Pro) c.854G>C (p.Arg285Pro) c.939+4771G>C (n.939+4771G>C) c.860G>C (p.Arg287Pro) c.512G>C (p.Arg171Pro) c.*243G>C (n.*243G>C) n.1646G>C c.1256G>C (p.Arg419Pro) c.1253G>C (p.Arg418Pro) c.989G>C (p.Arg330Pro) c.911G>C (p.Arg304Pro) c.908G>C (p.Arg303Pro) c.986G>C (p.Arg329Pro) n.1632G>C | dbSNP |
| 10 | g.121515208C>T | CA378327132 | FGFR2 | c.1199G>A (p.Arg400Gln) c.1196G>A (p.Arg399Gln) c.26G>A (p.Arg9Gln) n.544G>A c.851G>A (p.Arg284Gln) c.404-11267G>A (n.404-11267G>A) n.3543G>A c.929G>A (p.Arg310Gln) c.1202G>A (p.Arg401Gln) c.932G>A (p.Arg311Gln) c.854G>A (p.Arg285Gln) c.939+4771G>A (n.939+4771G>A) c.860G>A (p.Arg287Gln) c.512G>A (p.Arg171Gln) c.*243G>A (n.*243G>A) n.1646G>A c.1256G>A (p.Arg419Gln) c.1253G>A (p.Arg418Gln) c.989G>A (p.Arg330Gln) c.911G>A (p.Arg304Gln) c.908G>A (p.Arg303Gln) c.986G>A (p.Arg329Gln) n.1632G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.121515209G>A | CA378327134 | FGFR2 | c.1198C>T (p.Arg400Ter) c.1195C>T (p.Arg399Ter) c.25C>T (p.Arg9Ter) n.543C>T c.850C>T (p.Arg284Ter) c.404-11268C>T (n.404-11268C>T) n.3542C>T c.928C>T (p.Arg310Ter) c.1201C>T (p.Arg401Ter) c.931C>T (p.Arg311Ter) c.853C>T (p.Arg285Ter) c.939+4770C>T (n.939+4770C>T) c.859C>T (p.Arg287Ter) c.511C>T (p.Arg171Ter) c.*242C>T (n.*242C>T) n.1645C>T c.1255C>T (p.Arg419Ter) c.1252C>T (p.Arg418Ter) c.988C>T (p.Arg330Ter) c.910C>T (p.Arg304Ter) c.907C>T (p.Arg303Ter) c.985C>T (p.Arg329Ter) n.1631C>T | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.121515209G>C | CA378327135 | FGFR2 | c.1198C>G (p.Arg400Gly) c.1195C>G (p.Arg399Gly) c.25C>G (p.Arg9Gly) n.543C>G c.850C>G (p.Arg284Gly) c.404-11268C>G (n.404-11268C>G) n.3542C>G c.928C>G (p.Arg310Gly) c.1201C>G (p.Arg401Gly) c.931C>G (p.Arg311Gly) c.853C>G (p.Arg285Gly) c.939+4770C>G (n.939+4770C>G) c.859C>G (p.Arg287Gly) c.511C>G (p.Arg171Gly) c.*242C>G (n.*242C>G) n.1645C>G c.1255C>G (p.Arg419Gly) c.1252C>G (p.Arg418Gly) c.988C>G (p.Arg330Gly) c.910C>G (p.Arg304Gly) c.907C>G (p.Arg303Gly) c.985C>G (p.Arg329Gly) n.1631C>G | |
| 10 | g.121515209G= | CA1941023708 | FGFR2 | c.1198C= (p.Arg400=) c.1195C= (p.Arg399=) c.25C= (p.Arg9=) n.543C= c.850C= (p.Arg284=) c.404-11268C= (n.404-11268C=) n.3542C= c.928C= (p.Arg310=) c.1201C= (p.Arg401=) c.931C= (p.Arg311=) c.853C= (p.Arg285=) c.939+4770C= (n.939+4770C=) c.859C= (p.Arg287=) c.511C= (p.Arg171=) c.*242C= (n.*242C=) n.1645C= c.1255C= (p.Arg419=) c.1252C= (p.Arg418=) c.988C= (p.Arg330=) c.910C= (p.Arg304=) c.907C= (p.Arg303=) c.985C= (p.Arg329=) n.1631C= | |
| 10 | g.121515209G>T | CA471651627 | FGFR2 | c.1198C>A (p.Arg400=) c.1195C>A (p.Arg399=) c.25C>A (p.Arg9=) n.543C>A c.850C>A (p.Arg284=) c.404-11268C>A (n.404-11268C>A) n.3542C>A c.928C>A (p.Arg310=) c.1201C>A (p.Arg401=) c.931C>A (p.Arg311=) c.853C>A (p.Arg285=) c.939+4770C>A (n.939+4770C>A) c.859C>A (p.Arg287=) c.511C>A (p.Arg171=) c.*242C>A (n.*242C>A) n.1645C>A c.1255C>A (p.Arg419=) c.1252C>A (p.Arg418=) c.988C>A (p.Arg330=) c.910C>A (p.Arg304=) c.907C>A (p.Arg303=) c.985C>A (p.Arg329=) n.1631C>A | dbSNP |
| 10 | g.121515210G>A | CA471651629 | FGFR2 | c.1197C>T (p.Cys399=) c.1194C>T (p.Cys398=) c.24C>T (p.Cys8=) n.542C>T c.849C>T (p.Cys283=) c.404-11269C>T (n.404-11269C>T) n.3541C>T c.927C>T (p.Cys309=) c.1200C>T (p.Cys400=) c.930C>T (p.Cys310=) c.852C>T (p.Cys284=) c.939+4769C>T (n.939+4769C>T) c.858C>T (p.Cys286=) c.510C>T (p.Cys170=) c.*241C>T (n.*241C>T) n.1644C>T c.1254C>T (p.Cys418=) c.1251C>T (p.Cys417=) c.987C>T (p.Cys329=) c.909C>T (p.Cys303=) c.906C>T (p.Cys302=) c.984C>T (p.Cys328=) n.1630C>T | dbSNP |
| 10 | g.121515210G>C | CA378327136 | FGFR2 | c.1197C>G (p.Cys399Trp) c.1194C>G (p.Cys398Trp) c.24C>G (p.Cys8Trp) n.542C>G c.849C>G (p.Cys283Trp) c.404-11269C>G (n.404-11269C>G) n.3541C>G c.927C>G (p.Cys309Trp) c.1200C>G (p.Cys400Trp) c.930C>G (p.Cys310Trp) c.852C>G (p.Cys284Trp) c.939+4769C>G (n.939+4769C>G) c.858C>G (p.Cys286Trp) c.510C>G (p.Cys170Trp) c.*241C>G (n.*241C>G) n.1644C>G c.1254C>G (p.Cys418Trp) c.1251C>G (p.Cys417Trp) c.987C>G (p.Cys329Trp) c.909C>G (p.Cys303Trp) c.906C>G (p.Cys302Trp) c.984C>G (p.Cys328Trp) n.1630C>G | dbSNP |
| 10 | g.121515210G>T | CA378327137 | FGFR2 | c.1197C>A (p.Cys399Ter) c.1194C>A (p.Cys398Ter) c.24C>A (p.Cys8Ter) n.542C>A c.849C>A (p.Cys283Ter) c.404-11269C>A (n.404-11269C>A) n.3541C>A c.927C>A (p.Cys309Ter) c.1200C>A (p.Cys400Ter) c.930C>A (p.Cys310Ter) c.852C>A (p.Cys284Ter) c.939+4769C>A (n.939+4769C>A) c.858C>A (p.Cys286Ter) c.510C>A (p.Cys170Ter) c.*241C>A (n.*241C>A) n.1644C>A c.1254C>A (p.Cys418Ter) c.1251C>A (p.Cys417Ter) c.987C>A (p.Cys329Ter) c.909C>A (p.Cys303Ter) c.906C>A (p.Cys302Ter) c.984C>A (p.Cys328Ter) n.1630C>A | dbSNP |
| 10 | g.121515211C>A | CA378327138 | FGFR2 | c.1196G>T (p.Cys399Phe) c.1193G>T (p.Cys398Phe) c.23G>T (p.Cys8Phe) n.541G>T c.848G>T (p.Cys283Phe) c.404-11270G>T (n.404-11270G>T) n.3540G>T c.926G>T (p.Cys309Phe) c.1199G>T (p.Cys400Phe) c.929G>T (p.Cys310Phe) c.851G>T (p.Cys284Phe) c.939+4768G>T (n.939+4768G>T) c.857G>T (p.Cys286Phe) c.509G>T (p.Cys170Phe) c.*240G>T (n.*240G>T) n.1643G>T c.1253G>T (p.Cys418Phe) c.1250G>T (p.Cys417Phe) c.986G>T (p.Cys329Phe) c.908G>T (p.Cys303Phe) c.905G>T (p.Cys302Phe) c.983G>T (p.Cys328Phe) n.1629G>T | dbSNP |
| 10 | g.121515211C>G | CA378327139 | FGFR2 | c.1196G>C (p.Cys399Ser) c.1193G>C (p.Cys398Ser) c.23G>C (p.Cys8Ser) n.541G>C c.848G>C (p.Cys283Ser) c.404-11270G>C (n.404-11270G>C) n.3540G>C c.926G>C (p.Cys309Ser) c.1199G>C (p.Cys400Ser) c.929G>C (p.Cys310Ser) c.851G>C (p.Cys284Ser) c.939+4768G>C (n.939+4768G>C) c.857G>C (p.Cys286Ser) c.509G>C (p.Cys170Ser) c.*240G>C (n.*240G>C) n.1643G>C c.1253G>C (p.Cys418Ser) c.1250G>C (p.Cys417Ser) c.986G>C (p.Cys329Ser) c.908G>C (p.Cys303Ser) c.905G>C (p.Cys302Ser) c.983G>C (p.Cys328Ser) n.1629G>C | dbSNP |
| 10 | g.121515211C>T | CA378327140 | FGFR2 | c.1196G>A (p.Cys399Tyr) c.1193G>A (p.Cys398Tyr) c.23G>A (p.Cys8Tyr) n.541G>A c.848G>A (p.Cys283Tyr) c.404-11270G>A (n.404-11270G>A) n.3540G>A c.926G>A (p.Cys309Tyr) c.1199G>A (p.Cys400Tyr) c.929G>A (p.Cys310Tyr) c.851G>A (p.Cys284Tyr) c.939+4768G>A (n.939+4768G>A) c.857G>A (p.Cys286Tyr) c.509G>A (p.Cys170Tyr) c.*240G>A (n.*240G>A) n.1643G>A c.1253G>A (p.Cys418Tyr) c.1250G>A (p.Cys417Tyr) c.986G>A (p.Cys329Tyr) c.908G>A (p.Cys303Tyr) c.905G>A (p.Cys302Tyr) c.983G>A (p.Cys328Tyr) n.1629G>A | dbSNP |
| 10 | g.121515212A>C | CA378327141 | FGFR2 | c.1195T>G (p.Cys399Gly) c.1192T>G (p.Cys398Gly) c.22T>G (p.Cys8Gly) n.540T>G c.847T>G (p.Cys283Gly) c.404-11271T>G (n.404-11271T>G) n.3539T>G c.925T>G (p.Cys309Gly) c.1198T>G (p.Cys400Gly) c.928T>G (p.Cys310Gly) c.850T>G (p.Cys284Gly) c.939+4767T>G (n.939+4767T>G) c.856T>G (p.Cys286Gly) c.508T>G (p.Cys170Gly) c.*239T>G (n.*239T>G) n.1642T>G c.1252T>G (p.Cys418Gly) c.1249T>G (p.Cys417Gly) c.985T>G (p.Cys329Gly) c.907T>G (p.Cys303Gly) c.904T>G (p.Cys302Gly) c.982T>G (p.Cys328Gly) n.1628T>G | |
| 10 | g.121515212A>G | CA378327142 | FGFR2 | c.1195T>C (p.Cys399Arg) c.1192T>C (p.Cys398Arg) c.22T>C (p.Cys8Arg) n.540T>C c.847T>C (p.Cys283Arg) c.404-11271T>C (n.404-11271T>C) n.3539T>C c.925T>C (p.Cys309Arg) c.1198T>C (p.Cys400Arg) c.928T>C (p.Cys310Arg) c.850T>C (p.Cys284Arg) c.939+4767T>C (n.939+4767T>C) c.856T>C (p.Cys286Arg) c.508T>C (p.Cys170Arg) c.*239T>C (n.*239T>C) n.1642T>C c.1252T>C (p.Cys418Arg) c.1249T>C (p.Cys417Arg) c.985T>C (p.Cys329Arg) c.907T>C (p.Cys303Arg) c.904T>C (p.Cys302Arg) c.982T>C (p.Cys328Arg) n.1628T>C | dbSNP |
| 10 | g.121515212A>T | CA378327143 | FGFR2 | c.1195T>A (p.Cys399Ser) c.1192T>A (p.Cys398Ser) c.22T>A (p.Cys8Ser) n.540T>A c.847T>A (p.Cys283Ser) c.404-11271T>A (n.404-11271T>A) n.3539T>A c.925T>A (p.Cys309Ser) c.1198T>A (p.Cys400Ser) c.928T>A (p.Cys310Ser) c.850T>A (p.Cys284Ser) c.939+4767T>A (n.939+4767T>A) c.856T>A (p.Cys286Ser) c.508T>A (p.Cys170Ser) c.*239T>A (n.*239T>A) n.1642T>A c.1252T>A (p.Cys418Ser) c.1249T>A (p.Cys417Ser) c.985T>A (p.Cys329Ser) c.907T>A (p.Cys303Ser) c.904T>A (p.Cys302Ser) c.982T>A (p.Cys328Ser) n.1628T>A | dbSNP |
| 10 | g.121515213C>A | CA471651642 | FGFR2 | c.1194G>T (p.Leu398=) c.1191G>T (p.Leu397=) c.21G>T (p.Leu7=) n.539G>T c.846G>T (p.Leu282=) c.404-11272G>T (n.404-11272G>T) n.3538G>T c.924G>T (p.Leu308=) c.1197G>T (p.Leu399=) c.927G>T (p.Leu309=) c.849G>T (p.Leu283=) c.939+4766G>T (n.939+4766G>T) c.855G>T (p.Leu285=) c.507G>T (p.Leu169=) c.*238G>T (n.*238G>T) n.1641G>T c.1251G>T (p.Leu417=) c.1248G>T (p.Leu416=) c.984G>T (p.Leu328=) c.906G>T (p.Leu302=) c.903G>T (p.Leu301=) c.981G>T (p.Leu327=) n.1627G>T | dbSNP gnomAD v4 |
| 10 | g.121515213C= | CA1941023709 | FGFR2 | c.1194G= (p.Leu398=) c.1191G= (p.Leu397=) c.21G= (p.Leu7=) n.539G= c.846G= (p.Leu282=) c.404-11272G= (n.404-11272G=) n.3538G= c.924G= (p.Leu308=) c.1197G= (p.Leu399=) c.927G= (p.Leu309=) c.849G= (p.Leu283=) c.939+4766G= (n.939+4766G=) c.855G= (p.Leu285=) c.507G= (p.Leu169=) c.*238G= (n.*238G=) n.1641G= c.1251G= (p.Leu417=) c.1248G= (p.Leu416=) c.984G= (p.Leu328=) c.906G= (p.Leu302=) c.903G= (p.Leu301=) c.981G= (p.Leu327=) n.1627G= | |
| 10 | g.121515213C>G | CA471651639 | FGFR2 | c.1194G>C (p.Leu398=) c.1191G>C (p.Leu397=) c.21G>C (p.Leu7=) n.539G>C c.846G>C (p.Leu282=) c.404-11272G>C (n.404-11272G>C) n.3538G>C c.924G>C (p.Leu308=) c.1197G>C (p.Leu399=) c.927G>C (p.Leu309=) c.849G>C (p.Leu283=) c.939+4766G>C (n.939+4766G>C) c.855G>C (p.Leu285=) c.507G>C (p.Leu169=) c.*238G>C (n.*238G>C) n.1641G>C c.1251G>C (p.Leu417=) c.1248G>C (p.Leu416=) c.984G>C (p.Leu328=) c.906G>C (p.Leu302=) c.903G>C (p.Leu301=) c.981G>C (p.Leu327=) n.1627G>C | dbSNP gnomAD v4 |
| 10 | g.121515213C>T | CA5720822 | FGFR2 | c.1194G>A (p.Leu398=) c.1191G>A (p.Leu397=) c.21G>A (p.Leu7=) n.539G>A c.846G>A (p.Leu282=) c.404-11272G>A (n.404-11272G>A) n.3538G>A c.924G>A (p.Leu308=) c.1197G>A (p.Leu399=) c.927G>A (p.Leu309=) c.849G>A (p.Leu283=) c.939+4766G>A (n.939+4766G>A) c.855G>A (p.Leu285=) c.507G>A (p.Leu169=) c.*238G>A (n.*238G>A) n.1641G>A c.1251G>A (p.Leu417=) c.1248G>A (p.Leu416=) c.984G>A (p.Leu328=) c.906G>A (p.Leu302=) c.903G>A (p.Leu301=) c.981G>A (p.Leu327=) n.1627G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.121515214A>C | CA378327144 | FGFR2 | c.1193T>G (p.Leu398Arg) c.1190T>G (p.Leu397Arg) c.20T>G (p.Leu7Arg) n.538T>G c.845T>G (p.Leu282Arg) c.404-11273T>G (n.404-11273T>G) n.3537T>G c.923T>G (p.Leu308Arg) c.1196T>G (p.Leu399Arg) c.926T>G (p.Leu309Arg) c.848T>G (p.Leu283Arg) c.939+4765T>G (n.939+4765T>G) c.854T>G (p.Leu285Arg) c.506T>G (p.Leu169Arg) c.*237T>G (n.*237T>G) n.1640T>G c.1250T>G (p.Leu417Arg) c.1247T>G (p.Leu416Arg) c.983T>G (p.Leu328Arg) c.905T>G (p.Leu302Arg) c.902T>G (p.Leu301Arg) c.980T>G (p.Leu327Arg) n.1626T>G |