| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.121515189C>A | CA378327092 | FGFR2 | c.1218G>T (p.Lys406Asn) c.1215G>T (p.Lys405Asn) c.45G>T (p.Lys15Asn) n.563G>T c.870G>T (p.Lys290Asn) c.404-11248G>T (n.404-11248G>T) n.3562G>T c.948G>T (p.Lys316Asn) c.1221G>T (p.Lys407Asn) c.951G>T (p.Lys317Asn) c.873G>T (p.Lys291Asn) c.939+4790G>T (n.939+4790G>T) c.879G>T (p.Lys293Asn) c.531G>T (p.Lys177Asn) c.*262G>T (n.*262G>T) n.1665G>T c.1275G>T (p.Lys425Asn) c.1272G>T (p.Lys424Asn) c.1008G>T (p.Lys336Asn) c.930G>T (p.Lys310Asn) c.927G>T (p.Lys309Asn) c.1005G>T (p.Lys335Asn) n.1651G>T | |
| 10 | g.121515189C>G | CA378327093 | FGFR2 | c.1218G>C (p.Lys406Asn) c.1215G>C (p.Lys405Asn) c.45G>C (p.Lys15Asn) n.563G>C c.870G>C (p.Lys290Asn) c.404-11248G>C (n.404-11248G>C) n.3562G>C c.948G>C (p.Lys316Asn) c.1221G>C (p.Lys407Asn) c.951G>C (p.Lys317Asn) c.873G>C (p.Lys291Asn) c.939+4790G>C (n.939+4790G>C) c.879G>C (p.Lys293Asn) c.531G>C (p.Lys177Asn) c.*262G>C (n.*262G>C) n.1665G>C c.1275G>C (p.Lys425Asn) c.1272G>C (p.Lys424Asn) c.1008G>C (p.Lys336Asn) c.930G>C (p.Lys310Asn) c.927G>C (p.Lys309Asn) c.1005G>C (p.Lys335Asn) n.1651G>C | dbSNP |
| 10 | g.121515189C>T | CA471651558 | FGFR2 | c.1218G>A (p.Lys406=) c.1215G>A (p.Lys405=) c.45G>A (p.Lys15=) n.563G>A c.870G>A (p.Lys290=) c.404-11248G>A (n.404-11248G>A) n.3562G>A c.948G>A (p.Lys316=) c.1221G>A (p.Lys407=) c.951G>A (p.Lys317=) c.873G>A (p.Lys291=) c.939+4790G>A (n.939+4790G>A) c.879G>A (p.Lys293=) c.531G>A (p.Lys177=) c.*262G>A (n.*262G>A) n.1665G>A c.1275G>A (p.Lys425=) c.1272G>A (p.Lys424=) c.1008G>A (p.Lys336=) c.930G>A (p.Lys310=) c.927G>A (p.Lys309=) c.1005G>A (p.Lys335=) n.1651G>A | dbSNP |
| 10 | g.121515190T>A | CA378327094 | FGFR2 | c.1217A>T (p.Lys406Met) c.1214A>T (p.Lys405Met) c.44A>T (p.Lys15Met) n.562A>T c.869A>T (p.Lys290Met) c.404-11249A>T (n.404-11249A>T) n.3561A>T c.947A>T (p.Lys316Met) c.1220A>T (p.Lys407Met) c.950A>T (p.Lys317Met) c.872A>T (p.Lys291Met) c.939+4789A>T (n.939+4789A>T) c.878A>T (p.Lys293Met) c.530A>T (p.Lys177Met) c.*261A>T (n.*261A>T) n.1664A>T c.1274A>T (p.Lys425Met) c.1271A>T (p.Lys424Met) c.1007A>T (p.Lys336Met) c.929A>T (p.Lys310Met) c.926A>T (p.Lys309Met) c.1004A>T (p.Lys335Met) n.1650A>T | dbSNP |
| 10 | g.121515190T>C | CA378327095 | FGFR2 | c.1217A>G (p.Lys406Arg) c.1214A>G (p.Lys405Arg) c.44A>G (p.Lys15Arg) n.562A>G c.869A>G (p.Lys290Arg) c.404-11249A>G (n.404-11249A>G) n.3561A>G c.947A>G (p.Lys316Arg) c.1220A>G (p.Lys407Arg) c.950A>G (p.Lys317Arg) c.872A>G (p.Lys291Arg) c.939+4789A>G (n.939+4789A>G) c.878A>G (p.Lys293Arg) c.530A>G (p.Lys177Arg) c.*261A>G (n.*261A>G) n.1664A>G c.1274A>G (p.Lys425Arg) c.1271A>G (p.Lys424Arg) c.1007A>G (p.Lys336Arg) c.929A>G (p.Lys310Arg) c.926A>G (p.Lys309Arg) c.1004A>G (p.Lys335Arg) n.1650A>G | |
| 10 | g.121515190T>G | CA378327096 | FGFR2 | c.1217A>C (p.Lys406Thr) c.1214A>C (p.Lys405Thr) c.44A>C (p.Lys15Thr) n.562A>C c.869A>C (p.Lys290Thr) c.404-11249A>C (n.404-11249A>C) n.3561A>C c.947A>C (p.Lys316Thr) c.1220A>C (p.Lys407Thr) c.950A>C (p.Lys317Thr) c.872A>C (p.Lys291Thr) c.939+4789A>C (n.939+4789A>C) c.878A>C (p.Lys293Thr) c.530A>C (p.Lys177Thr) c.*261A>C (n.*261A>C) n.1664A>C c.1274A>C (p.Lys425Thr) c.1271A>C (p.Lys424Thr) c.1007A>C (p.Lys336Thr) c.929A>C (p.Lys310Thr) c.926A>C (p.Lys309Thr) c.1004A>C (p.Lys335Thr) n.1650A>C | |
| 10 | g.121515191T>A | CA378327097 | FGFR2 | c.1216A>T (p.Lys406Ter) c.1213A>T (p.Lys405Ter) c.43A>T (p.Lys15Ter) n.561A>T c.868A>T (p.Lys290Ter) c.404-11250A>T (n.404-11250A>T) n.3560A>T c.946A>T (p.Lys316Ter) c.1219A>T (p.Lys407Ter) c.949A>T (p.Lys317Ter) c.871A>T (p.Lys291Ter) c.939+4788A>T (n.939+4788A>T) c.877A>T (p.Lys293Ter) c.529A>T (p.Lys177Ter) c.*260A>T (n.*260A>T) n.1663A>T c.1273A>T (p.Lys425Ter) c.1270A>T (p.Lys424Ter) c.1006A>T (p.Lys336Ter) c.928A>T (p.Lys310Ter) c.925A>T (p.Lys309Ter) c.1003A>T (p.Lys335Ter) n.1649A>T | |
| 10 | g.121515191T>C | CA5720815 | FGFR2 | c.1216A>G (p.Lys406Glu) c.1213A>G (p.Lys405Glu) c.43A>G (p.Lys15Glu) n.561A>G c.868A>G (p.Lys290Glu) c.404-11250A>G (n.404-11250A>G) n.3560A>G c.946A>G (p.Lys316Glu) c.1219A>G (p.Lys407Glu) c.949A>G (p.Lys317Glu) c.871A>G (p.Lys291Glu) c.939+4788A>G (n.939+4788A>G) c.877A>G (p.Lys293Glu) c.529A>G (p.Lys177Glu) c.*260A>G (n.*260A>G) n.1663A>G c.1273A>G (p.Lys425Glu) c.1270A>G (p.Lys424Glu) c.1006A>G (p.Lys336Glu) c.928A>G (p.Lys310Glu) c.925A>G (p.Lys309Glu) c.1003A>G (p.Lys335Glu) n.1649A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.121515191T>G | CA378327098 | FGFR2 | c.1216A>C (p.Lys406Gln) c.1213A>C (p.Lys405Gln) c.43A>C (p.Lys15Gln) n.561A>C c.868A>C (p.Lys290Gln) c.404-11250A>C (n.404-11250A>C) n.3560A>C c.946A>C (p.Lys316Gln) c.1219A>C (p.Lys407Gln) c.949A>C (p.Lys317Gln) c.871A>C (p.Lys291Gln) c.939+4788A>C (n.939+4788A>C) c.877A>C (p.Lys293Gln) c.529A>C (p.Lys177Gln) c.*260A>C (n.*260A>C) n.1663A>C c.1273A>C (p.Lys425Gln) c.1270A>C (p.Lys424Gln) c.1006A>C (p.Lys336Gln) c.928A>C (p.Lys310Gln) c.925A>C (p.Lys309Gln) c.1003A>C (p.Lys335Gln) n.1649A>C | |
| 10 | g.121515191T= | CA1941023698 | FGFR2 | c.1216A= (p.Lys406=) c.1213A= (p.Lys405=) c.43A= (p.Lys15=) n.561A= c.868A= (p.Lys290=) c.404-11250A= (n.404-11250A=) n.3560A= c.946A= (p.Lys316=) c.1219A= (p.Lys407=) c.949A= (p.Lys317=) c.871A= (p.Lys291=) c.939+4788A= (n.939+4788A=) c.877A= (p.Lys293=) c.529A= (p.Lys177=) c.*260A= (n.*260A=) n.1663A= c.1273A= (p.Lys425=) c.1270A= (p.Lys424=) c.1006A= (p.Lys336=) c.928A= (p.Lys310=) c.925A= (p.Lys309=) c.1003A= (p.Lys335=) n.1649A= | |
| 10 | g.121515192G>A | CA5720816 | FGFR2 | c.1215C>T (p.Thr405=) c.1212C>T (p.Thr404=) c.42C>T (p.Thr14=) n.560C>T c.867C>T (p.Thr289=) c.404-11251C>T (n.404-11251C>T) n.3559C>T c.945C>T (p.Thr315=) c.1218C>T (p.Thr406=) c.948C>T (p.Thr316=) c.870C>T (p.Thr290=) c.939+4787C>T (n.939+4787C>T) c.876C>T (p.Thr292=) c.528C>T (p.Thr176=) c.*259C>T (n.*259C>T) n.1662C>T c.1272C>T (p.Thr424=) c.1269C>T (p.Thr423=) c.1005C>T (p.Thr335=) c.927C>T (p.Thr309=) c.924C>T (p.Thr308=) c.1002C>T (p.Thr334=) n.1648C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.121515192G>C | CA5720817 | FGFR2 | c.1215C>G (p.Thr405=) c.1212C>G (p.Thr404=) c.42C>G (p.Thr14=) n.560C>G c.867C>G (p.Thr289=) c.404-11251C>G (n.404-11251C>G) n.3559C>G c.945C>G (p.Thr315=) c.1218C>G (p.Thr406=) c.948C>G (p.Thr316=) c.870C>G (p.Thr290=) c.939+4787C>G (n.939+4787C>G) c.876C>G (p.Thr292=) c.528C>G (p.Thr176=) c.*259C>G (n.*259C>G) n.1662C>G c.1272C>G (p.Thr424=) c.1269C>G (p.Thr423=) c.1005C>G (p.Thr335=) c.927C>G (p.Thr309=) c.924C>G (p.Thr308=) c.1002C>G (p.Thr334=) n.1648C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.121515192G= | CA1941023699 | FGFR2 | c.1215C= (p.Thr405=) c.1212C= (p.Thr404=) c.42C= (p.Thr14=) n.560C= c.867C= (p.Thr289=) c.404-11251C= (n.404-11251C=) n.3559C= c.945C= (p.Thr315=) c.1218C= (p.Thr406=) c.948C= (p.Thr316=) c.870C= (p.Thr290=) c.939+4787C= (n.939+4787C=) c.876C= (p.Thr292=) c.528C= (p.Thr176=) c.*259C= (n.*259C=) n.1662C= c.1272C= (p.Thr424=) c.1269C= (p.Thr423=) c.1005C= (p.Thr335=) c.927C= (p.Thr309=) c.924C= (p.Thr308=) c.1002C= (p.Thr334=) n.1648C= | |
| 10 | g.121515192G>T | CA471651569 | FGFR2 | c.1215C>A (p.Thr405=) c.1212C>A (p.Thr404=) c.42C>A (p.Thr14=) n.560C>A c.867C>A (p.Thr289=) c.404-11251C>A (n.404-11251C>A) n.3559C>A c.945C>A (p.Thr315=) c.1218C>A (p.Thr406=) c.948C>A (p.Thr316=) c.870C>A (p.Thr290=) c.939+4787C>A (n.939+4787C>A) c.876C>A (p.Thr292=) c.528C>A (p.Thr176=) c.*259C>A (n.*259C>A) n.1662C>A c.1272C>A (p.Thr424=) c.1269C>A (p.Thr423=) c.1005C>A (p.Thr335=) c.927C>A (p.Thr309=) c.924C>A (p.Thr308=) c.1002C>A (p.Thr334=) n.1648C>A | dbSNP |
| 10 | g.121515193G>A | CA214305327 | FGFR2 | c.1214C>T (p.Thr405Ile) c.1211C>T (p.Thr404Ile) c.41C>T (p.Thr14Ile) n.559C>T c.866C>T (p.Thr289Ile) c.404-11252C>T (n.404-11252C>T) n.3558C>T c.944C>T (p.Thr315Ile) c.1217C>T (p.Thr406Ile) c.947C>T (p.Thr316Ile) c.869C>T (p.Thr290Ile) c.939+4786C>T (n.939+4786C>T) c.875C>T (p.Thr292Ile) c.527C>T (p.Thr176Ile) c.*258C>T (n.*258C>T) n.1661C>T c.1271C>T (p.Thr424Ile) c.1268C>T (p.Thr423Ile) c.1004C>T (p.Thr335Ile) c.926C>T (p.Thr309Ile) c.923C>T (p.Thr308Ile) c.1001C>T (p.Thr334Ile) n.1647C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.121515193G>C | CA378327100 | FGFR2 | c.1214C>G (p.Thr405Ser) c.1211C>G (p.Thr404Ser) c.41C>G (p.Thr14Ser) n.559C>G c.866C>G (p.Thr289Ser) c.404-11252C>G (n.404-11252C>G) n.3558C>G c.944C>G (p.Thr315Ser) c.1217C>G (p.Thr406Ser) c.947C>G (p.Thr316Ser) c.869C>G (p.Thr290Ser) c.939+4786C>G (n.939+4786C>G) c.875C>G (p.Thr292Ser) c.527C>G (p.Thr176Ser) c.*258C>G (n.*258C>G) n.1661C>G c.1271C>G (p.Thr424Ser) c.1268C>G (p.Thr423Ser) c.1004C>G (p.Thr335Ser) c.926C>G (p.Thr309Ser) c.923C>G (p.Thr308Ser) c.1001C>G (p.Thr334Ser) n.1647C>G | dbSNP gnomAD v4 |
| 10 | g.121515193G= | CA1941023700 | FGFR2 | c.1214C= (p.Thr405=) c.1211C= (p.Thr404=) c.41C= (p.Thr14=) n.559C= c.866C= (p.Thr289=) c.404-11252C= (n.404-11252C=) n.3558C= c.944C= (p.Thr315=) c.1217C= (p.Thr406=) c.947C= (p.Thr316=) c.869C= (p.Thr290=) c.939+4786C= (n.939+4786C=) c.875C= (p.Thr292=) c.527C= (p.Thr176=) c.*258C= (n.*258C=) n.1661C= c.1271C= (p.Thr424=) c.1268C= (p.Thr423=) c.1004C= (p.Thr335=) c.926C= (p.Thr309=) c.923C= (p.Thr308=) c.1001C= (p.Thr334=) n.1647C= | |
| 10 | g.121515193G>T | CA378327099 | FGFR2 | c.1214C>A (p.Thr405Asn) c.1211C>A (p.Thr404Asn) c.41C>A (p.Thr14Asn) n.559C>A c.866C>A (p.Thr289Asn) c.404-11252C>A (n.404-11252C>A) n.3558C>A c.944C>A (p.Thr315Asn) c.1217C>A (p.Thr406Asn) c.947C>A (p.Thr316Asn) c.869C>A (p.Thr290Asn) c.939+4786C>A (n.939+4786C>A) c.875C>A (p.Thr292Asn) c.527C>A (p.Thr176Asn) c.*258C>A (n.*258C>A) n.1661C>A c.1271C>A (p.Thr424Asn) c.1268C>A (p.Thr423Asn) c.1004C>A (p.Thr335Asn) c.926C>A (p.Thr309Asn) c.923C>A (p.Thr308Asn) c.1001C>A (p.Thr334Asn) n.1647C>A | dbSNP |
| 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 | 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 |