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.121515194T>A | CA378327101 | FGFR2 | c.1213A>T (p.Thr405Ser) c.1210A>T (p.Thr404Ser) c.40A>T (p.Thr14Ser) n.558A>T c.865A>T (p.Thr289Ser) c.404-11253A>T (n.404-11253A>T) n.3557A>T c.943A>T (p.Thr315Ser) c.1216A>T (p.Thr406Ser) c.946A>T (p.Thr316Ser) c.868A>T (p.Thr290Ser) c.939+4785A>T (n.939+4785A>T) c.874A>T (p.Thr292Ser) c.526A>T (p.Thr176Ser) c.*257A>T (n.*257A>T) n.1660A>T c.1270A>T (p.Thr424Ser) c.1267A>T (p.Thr423Ser) c.1003A>T (p.Thr335Ser) c.925A>T (p.Thr309Ser) c.922A>T (p.Thr308Ser) c.1000A>T (p.Thr334Ser) n.1646A>T | dbSNP |
| 10 | g.121515194T>C | CA378327102 | FGFR2 | c.1213A>G (p.Thr405Ala) c.1210A>G (p.Thr404Ala) c.40A>G (p.Thr14Ala) n.558A>G c.865A>G (p.Thr289Ala) c.404-11253A>G (n.404-11253A>G) n.3557A>G c.943A>G (p.Thr315Ala) c.1216A>G (p.Thr406Ala) c.946A>G (p.Thr316Ala) c.868A>G (p.Thr290Ala) c.939+4785A>G (n.939+4785A>G) c.874A>G (p.Thr292Ala) c.526A>G (p.Thr176Ala) c.*257A>G (n.*257A>G) n.1660A>G c.1270A>G (p.Thr424Ala) c.1267A>G (p.Thr423Ala) c.1003A>G (p.Thr335Ala) c.925A>G (p.Thr309Ala) c.922A>G (p.Thr308Ala) c.1000A>G (p.Thr334Ala) n.1646A>G | dbSNP |
| 10 | g.121515194T>G | CA378327103 | FGFR2 | c.1213A>C (p.Thr405Pro) c.1210A>C (p.Thr404Pro) c.40A>C (p.Thr14Pro) n.558A>C c.865A>C (p.Thr289Pro) c.404-11253A>C (n.404-11253A>C) n.3557A>C c.943A>C (p.Thr315Pro) c.1216A>C (p.Thr406Pro) c.946A>C (p.Thr316Pro) c.868A>C (p.Thr290Pro) c.939+4785A>C (n.939+4785A>C) c.874A>C (p.Thr292Pro) c.526A>C (p.Thr176Pro) c.*257A>C (n.*257A>C) n.1660A>C c.1270A>C (p.Thr424Pro) c.1267A>C (p.Thr423Pro) c.1003A>C (p.Thr335Pro) c.925A>C (p.Thr309Pro) c.922A>C (p.Thr308Pro) c.1000A>C (p.Thr334Pro) n.1646A>C | dbSNP |
| 10 | g.121515195C>A | CA471651581 | FGFR2 | c.1212G>T (p.Thr404=) c.1209G>T (p.Thr403=) c.39G>T (p.Thr13=) n.557G>T c.864G>T (p.Thr288=) c.404-11254G>T (n.404-11254G>T) n.3556G>T c.942G>T (p.Thr314=) c.1215G>T (p.Thr405=) c.945G>T (p.Thr315=) c.867G>T (p.Thr289=) c.939+4784G>T (n.939+4784G>T) c.873G>T (p.Thr291=) c.525G>T (p.Thr175=) c.*256G>T (n.*256G>T) n.1659G>T c.1269G>T (p.Thr423=) c.1266G>T (p.Thr422=) c.1002G>T (p.Thr334=) c.924G>T (p.Thr308=) c.921G>T (p.Thr307=) c.999G>T (p.Thr333=) n.1645G>T | gnomAD v4 |
| 10 | g.121515195C= | CA1941023701 | FGFR2 | c.1212G= (p.Thr404=) c.1209G= (p.Thr403=) c.39G= (p.Thr13=) n.557G= c.864G= (p.Thr288=) c.404-11254G= (n.404-11254G=) n.3556G= c.942G= (p.Thr314=) c.1215G= (p.Thr405=) c.945G= (p.Thr315=) c.867G= (p.Thr289=) c.939+4784G= (n.939+4784G=) c.873G= (p.Thr291=) c.525G= (p.Thr175=) c.*256G= (n.*256G=) n.1659G= c.1269G= (p.Thr423=) c.1266G= (p.Thr422=) c.1002G= (p.Thr334=) c.924G= (p.Thr308=) c.921G= (p.Thr307=) c.999G= (p.Thr333=) n.1645G= | |
| 10 | g.121515195C>G | CA471651578 | FGFR2 | c.1212G>C (p.Thr404=) c.1209G>C (p.Thr403=) c.39G>C (p.Thr13=) n.557G>C c.864G>C (p.Thr288=) c.404-11254G>C (n.404-11254G>C) n.3556G>C c.942G>C (p.Thr314=) c.1215G>C (p.Thr405=) c.945G>C (p.Thr315=) c.867G>C (p.Thr289=) c.939+4784G>C (n.939+4784G>C) c.873G>C (p.Thr291=) c.525G>C (p.Thr175=) c.*256G>C (n.*256G>C) n.1659G>C c.1269G>C (p.Thr423=) c.1266G>C (p.Thr422=) c.1002G>C (p.Thr334=) c.924G>C (p.Thr308=) c.921G>C (p.Thr307=) c.999G>C (p.Thr333=) n.1645G>C | dbSNP |
| 10 | g.121515195C>T | CA471651577 | FGFR2 | c.1212G>A (p.Thr404=) c.1209G>A (p.Thr403=) c.39G>A (p.Thr13=) n.557G>A c.864G>A (p.Thr288=) c.404-11254G>A (n.404-11254G>A) n.3556G>A c.942G>A (p.Thr314=) c.1215G>A (p.Thr405=) c.945G>A (p.Thr315=) c.867G>A (p.Thr289=) c.939+4784G>A (n.939+4784G>A) c.873G>A (p.Thr291=) c.525G>A (p.Thr175=) c.*256G>A (n.*256G>A) n.1659G>A c.1269G>A (p.Thr423=) c.1266G>A (p.Thr422=) c.1002G>A (p.Thr334=) c.924G>A (p.Thr308=) c.921G>A (p.Thr307=) c.999G>A (p.Thr333=) n.1645G>A | dbSNP gnomAD v4 |
| 10 | g.121515196G>A | CA5720818 | FGFR2 | c.1211C>T (p.Thr404Met) c.1208C>T (p.Thr403Met) c.38C>T (p.Thr13Met) n.556C>T c.863C>T (p.Thr288Met) c.404-11255C>T (n.404-11255C>T) n.3555C>T c.941C>T (p.Thr314Met) c.1214C>T (p.Thr405Met) c.944C>T (p.Thr315Met) c.866C>T (p.Thr289Met) c.939+4783C>T (n.939+4783C>T) c.872C>T (p.Thr291Met) c.524C>T (p.Thr175Met) c.*255C>T (n.*255C>T) n.1658C>T c.1268C>T (p.Thr423Met) c.1265C>T (p.Thr422Met) c.1001C>T (p.Thr334Met) c.923C>T (p.Thr308Met) c.920C>T (p.Thr307Met) c.998C>T (p.Thr333Met) n.1644C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.121515196G>C | CA378327104 | FGFR2 | c.1211C>G (p.Thr404Arg) c.1208C>G (p.Thr403Arg) c.38C>G (p.Thr13Arg) n.556C>G c.863C>G (p.Thr288Arg) c.404-11255C>G (n.404-11255C>G) n.3555C>G c.941C>G (p.Thr314Arg) c.1214C>G (p.Thr405Arg) c.944C>G (p.Thr315Arg) c.866C>G (p.Thr289Arg) c.939+4783C>G (n.939+4783C>G) c.872C>G (p.Thr291Arg) c.524C>G (p.Thr175Arg) c.*255C>G (n.*255C>G) n.1658C>G c.1268C>G (p.Thr423Arg) c.1265C>G (p.Thr422Arg) c.1001C>G (p.Thr334Arg) c.923C>G (p.Thr308Arg) c.920C>G (p.Thr307Arg) c.998C>G (p.Thr333Arg) n.1644C>G | dbSNP |
| 10 | g.121515196G= | CA1941023702 | FGFR2 | c.1211C= (p.Thr404=) c.1208C= (p.Thr403=) c.38C= (p.Thr13=) n.556C= c.863C= (p.Thr288=) c.404-11255C= (n.404-11255C=) n.3555C= c.941C= (p.Thr314=) c.1214C= (p.Thr405=) c.944C= (p.Thr315=) c.866C= (p.Thr289=) c.939+4783C= (n.939+4783C=) c.872C= (p.Thr291=) c.524C= (p.Thr175=) c.*255C= (n.*255C=) n.1658C= c.1268C= (p.Thr423=) c.1265C= (p.Thr422=) c.1001C= (p.Thr334=) c.923C= (p.Thr308=) c.920C= (p.Thr307=) c.998C= (p.Thr333=) n.1644C= | |
| 10 | g.121515196G>T | CA5720819 | FGFR2 | c.1211C>A (p.Thr404Lys) c.1208C>A (p.Thr403Lys) c.38C>A (p.Thr13Lys) n.556C>A c.863C>A (p.Thr288Lys) c.404-11255C>A (n.404-11255C>A) n.3555C>A c.941C>A (p.Thr314Lys) c.1214C>A (p.Thr405Lys) c.944C>A (p.Thr315Lys) c.866C>A (p.Thr289Lys) c.939+4783C>A (n.939+4783C>A) c.872C>A (p.Thr291Lys) c.524C>A (p.Thr175Lys) c.*255C>A (n.*255C>A) n.1658C>A c.1268C>A (p.Thr423Lys) c.1265C>A (p.Thr422Lys) c.1001C>A (p.Thr334Lys) c.923C>A (p.Thr308Lys) c.920C>A (p.Thr307Lys) c.998C>A (p.Thr333Lys) n.1644C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.121515197T>A | CA378327107 | FGFR2 | c.1210A>T (p.Thr404Ser) c.1207A>T (p.Thr403Ser) c.37A>T (p.Thr13Ser) n.555A>T c.862A>T (p.Thr288Ser) c.404-11256A>T (n.404-11256A>T) n.3554A>T c.940A>T (p.Thr314Ser) c.1213A>T (p.Thr405Ser) c.943A>T (p.Thr315Ser) c.865A>T (p.Thr289Ser) c.939+4782A>T (n.939+4782A>T) c.871A>T (p.Thr291Ser) c.523A>T (p.Thr175Ser) c.*254A>T (n.*254A>T) n.1657A>T c.1267A>T (p.Thr423Ser) c.1264A>T (p.Thr422Ser) c.1000A>T (p.Thr334Ser) c.922A>T (p.Thr308Ser) c.919A>T (p.Thr307Ser) c.997A>T (p.Thr333Ser) n.1643A>T | dbSNP |
| 10 | g.121515197T>C | CA378327105 | FGFR2 | c.1210A>G (p.Thr404Ala) c.1207A>G (p.Thr403Ala) c.37A>G (p.Thr13Ala) n.555A>G c.862A>G (p.Thr288Ala) c.404-11256A>G (n.404-11256A>G) n.3554A>G c.940A>G (p.Thr314Ala) c.1213A>G (p.Thr405Ala) c.943A>G (p.Thr315Ala) c.865A>G (p.Thr289Ala) c.939+4782A>G (n.939+4782A>G) c.871A>G (p.Thr291Ala) c.523A>G (p.Thr175Ala) c.*254A>G (n.*254A>G) n.1657A>G c.1267A>G (p.Thr423Ala) c.1264A>G (p.Thr422Ala) c.1000A>G (p.Thr334Ala) c.922A>G (p.Thr308Ala) c.919A>G (p.Thr307Ala) c.997A>G (p.Thr333Ala) n.1643A>G | ClinVar dbSNP gnomAD v4 |
| 10 | g.121515197T>G | CA378327106 | FGFR2 | c.1210A>C (p.Thr404Pro) c.1207A>C (p.Thr403Pro) c.37A>C (p.Thr13Pro) n.555A>C c.862A>C (p.Thr288Pro) c.404-11256A>C (n.404-11256A>C) n.3554A>C c.940A>C (p.Thr314Pro) c.1213A>C (p.Thr405Pro) c.943A>C (p.Thr315Pro) c.865A>C (p.Thr289Pro) c.939+4782A>C (n.939+4782A>C) c.871A>C (p.Thr291Pro) c.523A>C (p.Thr175Pro) c.*254A>C (n.*254A>C) n.1657A>C c.1267A>C (p.Thr423Pro) c.1264A>C (p.Thr422Pro) c.1000A>C (p.Thr334Pro) c.922A>C (p.Thr308Pro) c.919A>C (p.Thr307Pro) c.997A>C (p.Thr333Pro) n.1643A>C | dbSNP gnomAD v4 |
| 10 | g.121515198G>A | CA471651591 | FGFR2 | c.1209C>T (p.Asn403=) c.1206C>T (p.Asn402=) c.36C>T (p.Asn12=) n.554C>T c.861C>T (p.Asn287=) c.404-11257C>T (n.404-11257C>T) n.3553C>T c.939C>T (p.Asn313=) c.1212C>T (p.Asn404=) c.942C>T (p.Asn314=) c.864C>T (p.Asn288=) c.939+4781C>T (n.939+4781C>T) c.870C>T (p.Asn290=) c.522C>T (p.Asn174=) c.*253C>T (n.*253C>T) n.1656C>T c.1266C>T (p.Asn422=) c.1263C>T (p.Asn421=) c.999C>T (p.Asn333=) c.921C>T (p.Asn307=) c.918C>T (p.Asn306=) c.996C>T (p.Asn332=) n.1642C>T | dbSNP |
| 10 | g.121515198G>C | CA378327108 | FGFR2 | c.1209C>G (p.Asn403Lys) c.1206C>G (p.Asn402Lys) c.36C>G (p.Asn12Lys) n.554C>G c.861C>G (p.Asn287Lys) c.404-11257C>G (n.404-11257C>G) n.3553C>G c.939C>G (p.Asn313Lys) c.1212C>G (p.Asn404Lys) c.942C>G (p.Asn314Lys) c.864C>G (p.Asn288Lys) c.939+4781C>G (n.939+4781C>G) c.870C>G (p.Asn290Lys) c.522C>G (p.Asn174Lys) c.*253C>G (n.*253C>G) n.1656C>G c.1266C>G (p.Asn422Lys) c.1263C>G (p.Asn421Lys) c.999C>G (p.Asn333Lys) c.921C>G (p.Asn307Lys) c.918C>G (p.Asn306Lys) c.996C>G (p.Asn332Lys) n.1642C>G | dbSNP |
| 10 | g.121515198G>T | CA378327109 | FGFR2 | c.1209C>A (p.Asn403Lys) c.1206C>A (p.Asn402Lys) c.36C>A (p.Asn12Lys) n.554C>A c.861C>A (p.Asn287Lys) c.404-11257C>A (n.404-11257C>A) n.3553C>A c.939C>A (p.Asn313Lys) c.1212C>A (p.Asn404Lys) c.942C>A (p.Asn314Lys) c.864C>A (p.Asn288Lys) c.939+4781C>A (n.939+4781C>A) c.870C>A (p.Asn290Lys) c.522C>A (p.Asn174Lys) c.*253C>A (n.*253C>A) n.1656C>A c.1266C>A (p.Asn422Lys) c.1263C>A (p.Asn421Lys) c.999C>A (p.Asn333Lys) c.921C>A (p.Asn307Lys) c.918C>A (p.Asn306Lys) c.996C>A (p.Asn332Lys) n.1642C>A | |
| 10 | g.121515199T>A | CA378327110 | FGFR2 | c.1208A>T (p.Asn403Ile) c.1205A>T (p.Asn402Ile) c.35A>T (p.Asn12Ile) n.553A>T c.860A>T (p.Asn287Ile) c.404-11258A>T (n.404-11258A>T) n.3552A>T c.938A>T (p.Asn313Ile) c.1211A>T (p.Asn404Ile) c.941A>T (p.Asn314Ile) c.863A>T (p.Asn288Ile) c.939+4780A>T (n.939+4780A>T) c.869A>T (p.Asn290Ile) c.521A>T (p.Asn174Ile) c.*252A>T (n.*252A>T) n.1655A>T c.1265A>T (p.Asn422Ile) c.1262A>T (p.Asn421Ile) c.998A>T (p.Asn333Ile) c.920A>T (p.Asn307Ile) c.917A>T (p.Asn306Ile) c.995A>T (p.Asn332Ile) n.1641A>T | dbSNP |
| 10 | g.121515199T>C | CA5720820 | FGFR2 | c.1208A>G (p.Asn403Ser) c.1205A>G (p.Asn402Ser) c.35A>G (p.Asn12Ser) n.553A>G c.860A>G (p.Asn287Ser) c.404-11258A>G (n.404-11258A>G) n.3552A>G c.938A>G (p.Asn313Ser) c.1211A>G (p.Asn404Ser) c.941A>G (p.Asn314Ser) c.863A>G (p.Asn288Ser) c.939+4780A>G (n.939+4780A>G) c.869A>G (p.Asn290Ser) c.521A>G (p.Asn174Ser) c.*252A>G (n.*252A>G) n.1655A>G c.1265A>G (p.Asn422Ser) c.1262A>G (p.Asn421Ser) c.998A>G (p.Asn333Ser) c.920A>G (p.Asn307Ser) c.917A>G (p.Asn306Ser) c.995A>G (p.Asn332Ser) n.1641A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.121515199T>G | CA378327111 | FGFR2 | c.1208A>C (p.Asn403Thr) c.1205A>C (p.Asn402Thr) c.35A>C (p.Asn12Thr) n.553A>C c.860A>C (p.Asn287Thr) c.404-11258A>C (n.404-11258A>C) n.3552A>C c.938A>C (p.Asn313Thr) c.1211A>C (p.Asn404Thr) c.941A>C (p.Asn314Thr) c.863A>C (p.Asn288Thr) c.939+4780A>C (n.939+4780A>C) c.869A>C (p.Asn290Thr) c.521A>C (p.Asn174Thr) c.*252A>C (n.*252A>C) n.1655A>C c.1265A>C (p.Asn422Thr) c.1262A>C (p.Asn421Thr) c.998A>C (p.Asn333Thr) c.920A>C (p.Asn307Thr) c.917A>C (p.Asn306Thr) c.995A>C (p.Asn332Thr) n.1641A>C | dbSNP |
| 10 | g.121515199T= | CA1941023703 | FGFR2 | c.1208A= (p.Asn403=) c.1205A= (p.Asn402=) c.35A= (p.Asn12=) n.553A= c.860A= (p.Asn287=) c.404-11258A= (n.404-11258A=) n.3552A= c.938A= (p.Asn313=) c.1211A= (p.Asn404=) c.941A= (p.Asn314=) c.863A= (p.Asn288=) c.939+4780A= (n.939+4780A=) c.869A= (p.Asn290=) c.521A= (p.Asn174=) c.*252A= (n.*252A=) n.1655A= c.1265A= (p.Asn422=) c.1262A= (p.Asn421=) c.998A= (p.Asn333=) c.920A= (p.Asn307=) c.917A= (p.Asn306=) c.995A= (p.Asn332=) n.1641A= | |
| 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 |