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 |
|---|---|---|---|---|---|
| 8 | g.38413642_38418900dup | CA2580614557 | FGFR1 | c.1285-527_2455dup c.1273-527_2280+276dup n.1651_3348dup c.1465-527_2472+276dup c.1273-527_2443dup n.1973-527_3143dup c.1006-527_2176dup c.*931-527_*1938+276dup c.*1252-527_*2422dup n.2779-527_3949dup c.1012-527_2182dup c.1255-527_2425dup c.*335-527_*1505dup c.1018-527_2188dup c.1279-527_2449dup c.1378-527_2548dup n.3564-527_4734dup c.*180-527_*1350dup c.1285-527_2292+276dup c.1279-527_2286+276dup c.1261-527_2268+276dup c.1018-527_2025+276dup c.1012-527_2019+276dup c.1384-527_2391+276dup c.1378-527_2385+276dup c.1384-527_2554dup c.1117-527_2124+276dup c.1111-527_2118+276dup c.1111-527_2281dup c.994-527_2001+276dup c.1372-527_2379+276dup c.1372-527_2542dup c.1105-527_2275dup c.313-527_1320+276dup c.313-527_1483dup n.1533-527_2728dup n.1533-527_2565+276dup | |
| 8 | g.38413719_38419638dup | CA2740094990 | FGFR1 | c.1179_2378dup c.1173_2280+199dup n.913_3271dup c.1365_2472+199dup c.1173_2366dup n.1873_3066dup c.906_2099dup c.*831_*1938+199dup c.*1146_*2345dup n.2673_3872dup c.906_2105dup c.1155_2348dup c.*229_*1428dup c.912_2111dup c.1173_2372dup c.1272_2471dup n.3458_4657dup c.1179_2372dup c.*74_*1273dup c.1179_2292+199dup c.1173_2286+199dup c.1155_2268+199dup c.912_2025+199dup c.906_2019+199dup c.1278_2391+199dup c.1272_2385+199dup c.1278_2385+199dup c.1278_2477dup c.1278_2471dup c.1011_2124+199dup c.1005_2118+199dup c.1005_2204dup c.888_2001+199dup c.1272_2379+199dup c.1272_2465dup c.1179_2286+199dup c.1011_2204dup c.1005_2198dup c.213_1320+199dup c.213_1406dup n.1427_2651dup n.1427_2565+199dup | |
| 8 | g.38414257_38414317del | CA2686966080 | FGFR1 | c.2049-25_2084del c.2037-25_2072del n.2942-25_2977del n.1264_1324del n.739-25_774del c.2229-25_2264del n.2737-25_2772del c.1770-25_1805del c.*1695-25_*1730del c.*2016-25_*2051del n.3543-25_3578del c.1776-25_1811del c.2019-25_2054del c.*1099-25_*1134del c.1782-25_1817del c.2043-25_2078del c.2142-25_2177del n.4328-25_4363del c.249-25_284del c.*944-25_*979del c.2025-25_2060del c.2148-25_2183del c.1881-25_1916del c.1875-25_1910del c.1758-25_1793del c.2136-25_2171del c.1869-25_1904del c.1077-25_1112del n.2322-25_2357del | gnomAD v4 |
| 8 | g.38414265C>A | CA16605223 | FGFR1 | c.2073G>T (p.Trp691Cys) c.2061G>T (p.Trp687Cys) n.2966G>T n.1313G>T n.763G>T c.2253G>T (p.Trp751Cys) n.2761G>T c.1794G>T (p.Trp598Cys) c.*1719G>T (n.*1719G>T) c.*2040G>T (n.*2040G>T) n.3567G>T c.1800G>T (p.Trp600Cys) c.2043G>T (p.Trp681Cys) c.*1123G>T (n.*1123G>T) c.1806G>T (p.Trp602Cys) c.2067G>T (p.Trp689Cys) c.2166G>T (p.Trp722Cys) n.4352G>T c.273G>T (p.Trp91Cys) c.*968G>T (n.*968G>T) c.2049G>T (p.Trp683Cys) c.2172G>T (p.Trp724Cys) c.1905G>T (p.Trp635Cys) c.1899G>T (p.Trp633Cys) c.1782G>T (p.Trp594Cys) c.2160G>T (p.Trp720Cys) c.1893G>T (p.Trp631Cys) c.1101G>T (p.Trp367Cys) n.2346G>T | ClinVar dbSNP |
| 8 | g.38414265C= | CA1777533981 | FGFR1 | c.2073G= (p.Trp691=) c.2061G= (p.Trp687=) n.2966G= n.1313G= n.763G= c.2253G= (p.Trp751=) n.2761G= c.1794G= (p.Trp598=) c.*1719G= (n.*1719G=) c.*2040G= (n.*2040G=) n.3567G= c.1800G= (p.Trp600=) c.2043G= (p.Trp681=) c.*1123G= (n.*1123G=) c.1806G= (p.Trp602=) c.2067G= (p.Trp689=) c.2166G= (p.Trp722=) n.4352G= c.273G= (p.Trp91=) c.*968G= (n.*968G=) c.2049G= (p.Trp683=) c.2172G= (p.Trp724=) c.1905G= (p.Trp635=) c.1899G= (p.Trp633=) c.1782G= (p.Trp594=) c.2160G= (p.Trp720=) c.1893G= (p.Trp631=) c.1101G= (p.Trp367=) n.2346G= | |
| 8 | g.38414265C>G | CA370729024 | FGFR1 | c.2073G>C (p.Trp691Cys) c.2061G>C (p.Trp687Cys) n.2966G>C n.1313G>C n.763G>C c.2253G>C (p.Trp751Cys) n.2761G>C c.1794G>C (p.Trp598Cys) c.*1719G>C (n.*1719G>C) c.*2040G>C (n.*2040G>C) n.3567G>C c.1800G>C (p.Trp600Cys) c.2043G>C (p.Trp681Cys) c.*1123G>C (n.*1123G>C) c.1806G>C (p.Trp602Cys) c.2067G>C (p.Trp689Cys) c.2166G>C (p.Trp722Cys) n.4352G>C c.273G>C (p.Trp91Cys) c.*968G>C (n.*968G>C) c.2049G>C (p.Trp683Cys) c.2172G>C (p.Trp724Cys) c.1905G>C (p.Trp635Cys) c.1899G>C (p.Trp633Cys) c.1782G>C (p.Trp594Cys) c.2160G>C (p.Trp720Cys) c.1893G>C (p.Trp631Cys) c.1101G>C (p.Trp367Cys) n.2346G>C | dbSNP |
| 8 | g.38414265C>T | CA370729026 | FGFR1 | c.2073G>A (p.Trp691Ter) c.2061G>A (p.Trp687Ter) n.2966G>A n.1313G>A n.763G>A c.2253G>A (p.Trp751Ter) n.2761G>A c.1794G>A (p.Trp598Ter) c.*1719G>A (n.*1719G>A) c.*2040G>A (n.*2040G>A) n.3567G>A c.1800G>A (p.Trp600Ter) c.2043G>A (p.Trp681Ter) c.*1123G>A (n.*1123G>A) c.1806G>A (p.Trp602Ter) c.2067G>A (p.Trp689Ter) c.2166G>A (p.Trp722Ter) n.4352G>A c.273G>A (p.Trp91Ter) c.*968G>A (n.*968G>A) c.2049G>A (p.Trp683Ter) c.2172G>A (p.Trp724Ter) c.1905G>A (p.Trp635Ter) c.1899G>A (p.Trp633Ter) c.1782G>A (p.Trp594Ter) c.2160G>A (p.Trp720Ter) c.1893G>A (p.Trp631Ter) c.1101G>A (p.Trp367Ter) n.2346G>A | dbSNP |
| 8 | g.38414266C>A | CA370729033 | FGFR1 | c.2072G>T (p.Trp691Leu) c.2060G>T (p.Trp687Leu) n.2965G>T n.1312G>T n.762G>T c.2252G>T (p.Trp751Leu) n.2760G>T c.1793G>T (p.Trp598Leu) c.*1718G>T (n.*1718G>T) c.*2039G>T (n.*2039G>T) n.3566G>T c.1799G>T (p.Trp600Leu) c.2042G>T (p.Trp681Leu) c.*1122G>T (n.*1122G>T) c.1805G>T (p.Trp602Leu) c.2066G>T (p.Trp689Leu) c.2165G>T (p.Trp722Leu) n.4351G>T c.272G>T (p.Trp91Leu) c.*967G>T (n.*967G>T) c.2048G>T (p.Trp683Leu) c.2171G>T (p.Trp724Leu) c.1904G>T (p.Trp635Leu) c.1898G>T (p.Trp633Leu) c.1781G>T (p.Trp594Leu) c.2159G>T (p.Trp720Leu) c.1892G>T (p.Trp631Leu) c.1100G>T (p.Trp367Leu) n.2345G>T | dbSNP |
| 8 | g.38414266C>G | CA370729035 | FGFR1 | c.2072G>C (p.Trp691Ser) c.2060G>C (p.Trp687Ser) n.2965G>C n.1312G>C n.762G>C c.2252G>C (p.Trp751Ser) n.2760G>C c.1793G>C (p.Trp598Ser) c.*1718G>C (n.*1718G>C) c.*2039G>C (n.*2039G>C) n.3566G>C c.1799G>C (p.Trp600Ser) c.2042G>C (p.Trp681Ser) c.*1122G>C (n.*1122G>C) c.1805G>C (p.Trp602Ser) c.2066G>C (p.Trp689Ser) c.2165G>C (p.Trp722Ser) n.4351G>C c.272G>C (p.Trp91Ser) c.*967G>C (n.*967G>C) c.2048G>C (p.Trp683Ser) c.2171G>C (p.Trp724Ser) c.1904G>C (p.Trp635Ser) c.1898G>C (p.Trp633Ser) c.1781G>C (p.Trp594Ser) c.2159G>C (p.Trp720Ser) c.1892G>C (p.Trp631Ser) c.1100G>C (p.Trp367Ser) n.2345G>C | |
| 8 | g.38414266C>T | CA370729030 | FGFR1 | c.2072G>A (p.Trp691Ter) c.2060G>A (p.Trp687Ter) n.2965G>A n.1312G>A n.762G>A c.2252G>A (p.Trp751Ter) n.2760G>A c.1793G>A (p.Trp598Ter) c.*1718G>A (n.*1718G>A) c.*2039G>A (n.*2039G>A) n.3566G>A c.1799G>A (p.Trp600Ter) c.2042G>A (p.Trp681Ter) c.*1122G>A (n.*1122G>A) c.1805G>A (p.Trp602Ter) c.2066G>A (p.Trp689Ter) c.2165G>A (p.Trp722Ter) n.4351G>A c.272G>A (p.Trp91Ter) c.*967G>A (n.*967G>A) c.2048G>A (p.Trp683Ter) c.2171G>A (p.Trp724Ter) c.1904G>A (p.Trp635Ter) c.1898G>A (p.Trp633Ter) c.1781G>A (p.Trp594Ter) c.2159G>A (p.Trp720Ter) c.1892G>A (p.Trp631Ter) c.1100G>A (p.Trp367Ter) n.2345G>A | dbSNP |
| 8 | g.38414267A>C | CA370729040 | FGFR1 | c.2071T>G (p.Trp691Gly) c.2059T>G (p.Trp687Gly) n.2964T>G n.1311T>G n.761T>G c.2251T>G (p.Trp751Gly) n.2759T>G c.1792T>G (p.Trp598Gly) c.*1717T>G (n.*1717T>G) c.*2038T>G (n.*2038T>G) n.3565T>G c.1798T>G (p.Trp600Gly) c.2041T>G (p.Trp681Gly) c.*1121T>G (n.*1121T>G) c.1804T>G (p.Trp602Gly) c.2065T>G (p.Trp689Gly) c.2164T>G (p.Trp722Gly) n.4350T>G c.271T>G (p.Trp91Gly) c.*966T>G (n.*966T>G) c.2047T>G (p.Trp683Gly) c.2170T>G (p.Trp724Gly) c.1903T>G (p.Trp635Gly) c.1897T>G (p.Trp633Gly) c.1780T>G (p.Trp594Gly) c.2158T>G (p.Trp720Gly) c.1891T>G (p.Trp631Gly) c.1099T>G (p.Trp367Gly) n.2344T>G | dbSNP |
| 8 | g.38414267A>G | CA370729042 | FGFR1 | c.2071T>C (p.Trp691Arg) c.2059T>C (p.Trp687Arg) n.2964T>C n.1311T>C n.761T>C c.2251T>C (p.Trp751Arg) n.2759T>C c.1792T>C (p.Trp598Arg) c.*1717T>C (n.*1717T>C) c.*2038T>C (n.*2038T>C) n.3565T>C c.1798T>C (p.Trp600Arg) c.2041T>C (p.Trp681Arg) c.*1121T>C (n.*1121T>C) c.1804T>C (p.Trp602Arg) c.2065T>C (p.Trp689Arg) c.2164T>C (p.Trp722Arg) n.4350T>C c.271T>C (p.Trp91Arg) c.*966T>C (n.*966T>C) c.2047T>C (p.Trp683Arg) c.2170T>C (p.Trp724Arg) c.1903T>C (p.Trp635Arg) c.1897T>C (p.Trp633Arg) c.1780T>C (p.Trp594Arg) c.2158T>C (p.Trp720Arg) c.1891T>C (p.Trp631Arg) c.1099T>C (p.Trp367Arg) n.2344T>C | dbSNP |
| 8 | g.38414267A>T | CA370729046 | FGFR1 | c.2071T>A (p.Trp691Arg) c.2059T>A (p.Trp687Arg) n.2964T>A n.1311T>A n.761T>A c.2251T>A (p.Trp751Arg) n.2759T>A c.1792T>A (p.Trp598Arg) c.*1717T>A (n.*1717T>A) c.*2038T>A (n.*2038T>A) n.3565T>A c.1798T>A (p.Trp600Arg) c.2041T>A (p.Trp681Arg) c.*1121T>A (n.*1121T>A) c.1804T>A (p.Trp602Arg) c.2065T>A (p.Trp689Arg) c.2164T>A (p.Trp722Arg) n.4350T>A c.271T>A (p.Trp91Arg) c.*966T>A (n.*966T>A) c.2047T>A (p.Trp683Arg) c.2170T>A (p.Trp724Arg) c.1903T>A (p.Trp635Arg) c.1897T>A (p.Trp633Arg) c.1780T>A (p.Trp594Arg) c.2158T>A (p.Trp720Arg) c.1891T>A (p.Trp631Arg) c.1099T>A (p.Trp367Arg) n.2344T>A | dbSNP |
| 8 | g.38414268C>A | CA175138325 | FGFR1 | c.2070G>T (p.Leu690=) c.2058G>T (p.Leu686=) n.2963G>T n.1310G>T n.760G>T c.2250G>T (p.Leu750=) n.2758G>T c.1791G>T (p.Leu597=) c.*1716G>T (n.*1716G>T) c.*2037G>T (n.*2037G>T) n.3564G>T c.1797G>T (p.Leu599=) c.2040G>T (p.Leu680=) c.*1120G>T (n.*1120G>T) c.1803G>T (p.Leu601=) c.2064G>T (p.Leu688=) c.2163G>T (p.Leu721=) n.4349G>T c.270G>T (p.Leu90=) c.*965G>T (n.*965G>T) c.2046G>T (p.Leu682=) c.2169G>T (p.Leu723=) c.1902G>T (p.Leu634=) c.1896G>T (p.Leu632=) c.1779G>T (p.Leu593=) c.2157G>T (p.Leu719=) c.1890G>T (p.Leu630=) c.1098G>T (p.Leu366=) n.2343G>T | dbSNP gnomAD v4 |
| 8 | g.38414268C= | CA1777533986 | FGFR1 | c.2070G= (p.Leu690=) c.2058G= (p.Leu686=) n.2963G= n.1310G= n.760G= c.2250G= (p.Leu750=) n.2758G= c.1791G= (p.Leu597=) c.*1716G= (n.*1716G=) c.*2037G= (n.*2037G=) n.3564G= c.1797G= (p.Leu599=) c.2040G= (p.Leu680=) c.*1120G= (n.*1120G=) c.1803G= (p.Leu601=) c.2064G= (p.Leu688=) c.2163G= (p.Leu721=) n.4349G= c.270G= (p.Leu90=) c.*965G= (n.*965G=) c.2046G= (p.Leu682=) c.2169G= (p.Leu723=) c.1902G= (p.Leu634=) c.1896G= (p.Leu632=) c.1779G= (p.Leu593=) c.2157G= (p.Leu719=) c.1890G= (p.Leu630=) c.1098G= (p.Leu366=) n.2343G= | |
| 8 | g.38414268C>G | CA460394874 | FGFR1 | c.2070G>C (p.Leu690=) c.2058G>C (p.Leu686=) n.2963G>C n.1310G>C n.760G>C c.2250G>C (p.Leu750=) n.2758G>C c.1791G>C (p.Leu597=) c.*1716G>C (n.*1716G>C) c.*2037G>C (n.*2037G>C) n.3564G>C c.1797G>C (p.Leu599=) c.2040G>C (p.Leu680=) c.*1120G>C (n.*1120G>C) c.1803G>C (p.Leu601=) c.2064G>C (p.Leu688=) c.2163G>C (p.Leu721=) n.4349G>C c.270G>C (p.Leu90=) c.*965G>C (n.*965G>C) c.2046G>C (p.Leu682=) c.2169G>C (p.Leu723=) c.1902G>C (p.Leu634=) c.1896G>C (p.Leu632=) c.1779G>C (p.Leu593=) c.2157G>C (p.Leu719=) c.1890G>C (p.Leu630=) c.1098G>C (p.Leu366=) n.2343G>C | dbSNP |
| 8 | g.38414268C>T | CA460394876 | FGFR1 | c.2070G>A (p.Leu690=) c.2058G>A (p.Leu686=) n.2963G>A n.1310G>A n.760G>A c.2250G>A (p.Leu750=) n.2758G>A c.1791G>A (p.Leu597=) c.*1716G>A (n.*1716G>A) c.*2037G>A (n.*2037G>A) n.3564G>A c.1797G>A (p.Leu599=) c.2040G>A (p.Leu680=) c.*1120G>A (n.*1120G>A) c.1803G>A (p.Leu601=) c.2064G>A (p.Leu688=) c.2163G>A (p.Leu721=) n.4349G>A c.270G>A (p.Leu90=) c.*965G>A (n.*965G>A) c.2046G>A (p.Leu682=) c.2169G>A (p.Leu723=) c.1902G>A (p.Leu634=) c.1896G>A (p.Leu632=) c.1779G>A (p.Leu593=) c.2157G>A (p.Leu719=) c.1890G>A (p.Leu630=) c.1098G>A (p.Leu366=) n.2343G>A | dbSNP |
| 8 | g.38414269A>C | CA370729050 | FGFR1 | c.2069T>G (p.Leu690Arg) c.2057T>G (p.Leu686Arg) n.2962T>G n.1309T>G n.759T>G c.2249T>G (p.Leu750Arg) n.2757T>G c.1790T>G (p.Leu597Arg) c.*1715T>G (n.*1715T>G) c.*2036T>G (n.*2036T>G) n.3563T>G c.1796T>G (p.Leu599Arg) c.2039T>G (p.Leu680Arg) c.*1119T>G (n.*1119T>G) c.1802T>G (p.Leu601Arg) c.2063T>G (p.Leu688Arg) c.2162T>G (p.Leu721Arg) n.4348T>G c.269T>G (p.Leu90Arg) c.*964T>G (n.*964T>G) c.2045T>G (p.Leu682Arg) c.2168T>G (p.Leu723Arg) c.1901T>G (p.Leu634Arg) c.1895T>G (p.Leu632Arg) c.1778T>G (p.Leu593Arg) c.2156T>G (p.Leu719Arg) c.1889T>G (p.Leu630Arg) c.1097T>G (p.Leu366Arg) n.2342T>G | |
| 8 | g.38414269A>G | CA370729052 | FGFR1 | c.2069T>C (p.Leu690Pro) c.2057T>C (p.Leu686Pro) n.2962T>C n.1309T>C n.759T>C c.2249T>C (p.Leu750Pro) n.2757T>C c.1790T>C (p.Leu597Pro) c.*1715T>C (n.*1715T>C) c.*2036T>C (n.*2036T>C) n.3563T>C c.1796T>C (p.Leu599Pro) c.2039T>C (p.Leu680Pro) c.*1119T>C (n.*1119T>C) c.1802T>C (p.Leu601Pro) c.2063T>C (p.Leu688Pro) c.2162T>C (p.Leu721Pro) n.4348T>C c.269T>C (p.Leu90Pro) c.*964T>C (n.*964T>C) c.2045T>C (p.Leu682Pro) c.2168T>C (p.Leu723Pro) c.1901T>C (p.Leu634Pro) c.1895T>C (p.Leu632Pro) c.1778T>C (p.Leu593Pro) c.2156T>C (p.Leu719Pro) c.1889T>C (p.Leu630Pro) c.1097T>C (p.Leu366Pro) n.2342T>C | dbSNP |
| 8 | g.38414269A>T | CA370729056 | FGFR1 | c.2069T>A (p.Leu690Gln) c.2057T>A (p.Leu686Gln) n.2962T>A n.1309T>A n.759T>A c.2249T>A (p.Leu750Gln) n.2757T>A c.1790T>A (p.Leu597Gln) c.*1715T>A (n.*1715T>A) c.*2036T>A (n.*2036T>A) n.3563T>A c.1796T>A (p.Leu599Gln) c.2039T>A (p.Leu680Gln) c.*1119T>A (n.*1119T>A) c.1802T>A (p.Leu601Gln) c.2063T>A (p.Leu688Gln) c.2162T>A (p.Leu721Gln) n.4348T>A c.269T>A (p.Leu90Gln) c.*964T>A (n.*964T>A) c.2045T>A (p.Leu682Gln) c.2168T>A (p.Leu723Gln) c.1901T>A (p.Leu634Gln) c.1895T>A (p.Leu632Gln) c.1778T>A (p.Leu593Gln) c.2156T>A (p.Leu719Gln) c.1889T>A (p.Leu630Gln) c.1097T>A (p.Leu366Gln) n.2342T>A | dbSNP |
| 8 | g.38414270G>A | CA460394883 | FGFR1 | c.2068C>T (p.Leu690=) c.2056C>T (p.Leu686=) n.2961C>T n.1308C>T n.758C>T c.2248C>T (p.Leu750=) n.2756C>T c.1789C>T (p.Leu597=) c.*1714C>T (n.*1714C>T) c.*2035C>T (n.*2035C>T) n.3562C>T c.1795C>T (p.Leu599=) c.2038C>T (p.Leu680=) c.*1118C>T (n.*1118C>T) c.1801C>T (p.Leu601=) c.2062C>T (p.Leu688=) c.2161C>T (p.Leu721=) n.4347C>T c.268C>T (p.Leu90=) c.*963C>T (n.*963C>T) c.2044C>T (p.Leu682=) c.2167C>T (p.Leu723=) c.1900C>T (p.Leu634=) c.1894C>T (p.Leu632=) c.1777C>T (p.Leu593=) c.2155C>T (p.Leu719=) c.1888C>T (p.Leu630=) c.1096C>T (p.Leu366=) n.2341C>T | dbSNP |
| 8 | g.38414270G>C | CA370729059 | FGFR1 | c.2068C>G (p.Leu690Val) c.2056C>G (p.Leu686Val) n.2961C>G n.1308C>G n.758C>G c.2248C>G (p.Leu750Val) n.2756C>G c.1789C>G (p.Leu597Val) c.*1714C>G (n.*1714C>G) c.*2035C>G (n.*2035C>G) n.3562C>G c.1795C>G (p.Leu599Val) c.2038C>G (p.Leu680Val) c.*1118C>G (n.*1118C>G) c.1801C>G (p.Leu601Val) c.2062C>G (p.Leu688Val) c.2161C>G (p.Leu721Val) n.4347C>G c.268C>G (p.Leu90Val) c.*963C>G (n.*963C>G) c.2044C>G (p.Leu682Val) c.2167C>G (p.Leu723Val) c.1900C>G (p.Leu634Val) c.1894C>G (p.Leu632Val) c.1777C>G (p.Leu593Val) c.2155C>G (p.Leu719Val) c.1888C>G (p.Leu630Val) c.1096C>G (p.Leu366Val) n.2341C>G | dbSNP |
| 8 | g.38414270G>T | CA370729062 | FGFR1 | c.2068C>A (p.Leu690Met) c.2056C>A (p.Leu686Met) n.2961C>A n.1308C>A n.758C>A c.2248C>A (p.Leu750Met) n.2756C>A c.1789C>A (p.Leu597Met) c.*1714C>A (n.*1714C>A) c.*2035C>A (n.*2035C>A) n.3562C>A c.1795C>A (p.Leu599Met) c.2038C>A (p.Leu680Met) c.*1118C>A (n.*1118C>A) c.1801C>A (p.Leu601Met) c.2062C>A (p.Leu688Met) c.2161C>A (p.Leu721Met) n.4347C>A c.268C>A (p.Leu90Met) c.*963C>A (n.*963C>A) c.2044C>A (p.Leu682Met) c.2167C>A (p.Leu723Met) c.1900C>A (p.Leu634Met) c.1894C>A (p.Leu632Met) c.1777C>A (p.Leu593Met) c.2155C>A (p.Leu719Met) c.1888C>A (p.Leu630Met) c.1096C>A (p.Leu366Met) n.2341C>A | |
| 8 | g.38414271G>A | CA4718182 | FGFR1 | c.2067C>T (p.Leu689=) c.2055C>T (p.Leu685=) n.2960C>T n.1307C>T n.757C>T c.2247C>T (p.Leu749=) n.2755C>T c.1788C>T (p.Leu596=) c.*1713C>T (n.*1713C>T) c.*2034C>T (n.*2034C>T) n.3561C>T c.1794C>T (p.Leu598=) c.2037C>T (p.Leu679=) c.*1117C>T (n.*1117C>T) c.1800C>T (p.Leu600=) c.2061C>T (p.Leu687=) c.2160C>T (p.Leu720=) n.4346C>T c.267C>T (p.Leu89=) c.*962C>T (n.*962C>T) c.2043C>T (p.Leu681=) c.2166C>T (p.Leu722=) c.1899C>T (p.Leu633=) c.1893C>T (p.Leu631=) c.1776C>T (p.Leu592=) c.2154C>T (p.Leu718=) c.1887C>T (p.Leu629=) c.1095C>T (p.Leu365=) n.2340C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.38414271G>C | CA460394886 | FGFR1 | c.2067C>G (p.Leu689=) c.2055C>G (p.Leu685=) n.2960C>G n.1307C>G n.757C>G c.2247C>G (p.Leu749=) n.2755C>G c.1788C>G (p.Leu596=) c.*1713C>G (n.*1713C>G) c.*2034C>G (n.*2034C>G) n.3561C>G c.1794C>G (p.Leu598=) c.2037C>G (p.Leu679=) c.*1117C>G (n.*1117C>G) c.1800C>G (p.Leu600=) c.2061C>G (p.Leu687=) c.2160C>G (p.Leu720=) n.4346C>G c.267C>G (p.Leu89=) c.*962C>G (n.*962C>G) c.2043C>G (p.Leu681=) c.2166C>G (p.Leu722=) c.1899C>G (p.Leu633=) c.1893C>G (p.Leu631=) c.1776C>G (p.Leu592=) c.2154C>G (p.Leu718=) c.1887C>G (p.Leu629=) c.1095C>G (p.Leu365=) n.2340C>G | dbSNP |
| 8 | g.38414271G= | CA1777533990 | FGFR1 | c.2067C= (p.Leu689=) c.2055C= (p.Leu685=) n.2960C= n.1307C= n.757C= c.2247C= (p.Leu749=) n.2755C= c.1788C= (p.Leu596=) c.*1713C= (n.*1713C=) c.*2034C= (n.*2034C=) n.3561C= c.1794C= (p.Leu598=) c.2037C= (p.Leu679=) c.*1117C= (n.*1117C=) c.1800C= (p.Leu600=) c.2061C= (p.Leu687=) c.2160C= (p.Leu720=) n.4346C= c.267C= (p.Leu89=) c.*962C= (n.*962C=) c.2043C= (p.Leu681=) c.2166C= (p.Leu722=) c.1899C= (p.Leu633=) c.1893C= (p.Leu631=) c.1776C= (p.Leu592=) c.2154C= (p.Leu718=) c.1887C= (p.Leu629=) c.1095C= (p.Leu365=) n.2340C= | |
| 8 | g.38414271G>T | CA460394889 | FGFR1 | c.2067C>A (p.Leu689=) c.2055C>A (p.Leu685=) n.2960C>A n.1307C>A n.757C>A c.2247C>A (p.Leu749=) n.2755C>A c.1788C>A (p.Leu596=) c.*1713C>A (n.*1713C>A) c.*2034C>A (n.*2034C>A) n.3561C>A c.1794C>A (p.Leu598=) c.2037C>A (p.Leu679=) c.*1117C>A (n.*1117C>A) c.1800C>A (p.Leu600=) c.2061C>A (p.Leu687=) c.2160C>A (p.Leu720=) n.4346C>A c.267C>A (p.Leu89=) c.*962C>A (n.*962C>A) c.2043C>A (p.Leu681=) c.2166C>A (p.Leu722=) c.1899C>A (p.Leu633=) c.1893C>A (p.Leu631=) c.1776C>A (p.Leu592=) c.2154C>A (p.Leu718=) c.1887C>A (p.Leu629=) c.1095C>A (p.Leu365=) n.2340C>A | |
| 8 | g.38414272A>C | CA370729068 | FGFR1 | c.2066T>G (p.Leu689Arg) c.2054T>G (p.Leu685Arg) n.2959T>G n.1306T>G n.756T>G c.2246T>G (p.Leu749Arg) n.2754T>G c.1787T>G (p.Leu596Arg) c.*1712T>G (n.*1712T>G) c.*2033T>G (n.*2033T>G) n.3560T>G c.1793T>G (p.Leu598Arg) c.2036T>G (p.Leu679Arg) c.*1116T>G (n.*1116T>G) c.1799T>G (p.Leu600Arg) c.2060T>G (p.Leu687Arg) c.2159T>G (p.Leu720Arg) n.4345T>G c.266T>G (p.Leu89Arg) c.*961T>G (n.*961T>G) c.2042T>G (p.Leu681Arg) c.2165T>G (p.Leu722Arg) c.1898T>G (p.Leu633Arg) c.1892T>G (p.Leu631Arg) c.1775T>G (p.Leu592Arg) c.2153T>G (p.Leu718Arg) c.1886T>G (p.Leu629Arg) c.1094T>G (p.Leu365Arg) n.2339T>G | |
| 8 | g.38414272A>G | CA370729071 | FGFR1 | c.2066T>C (p.Leu689Pro) c.2054T>C (p.Leu685Pro) n.2959T>C n.1306T>C n.756T>C c.2246T>C (p.Leu749Pro) n.2754T>C c.1787T>C (p.Leu596Pro) c.*1712T>C (n.*1712T>C) c.*2033T>C (n.*2033T>C) n.3560T>C c.1793T>C (p.Leu598Pro) c.2036T>C (p.Leu679Pro) c.*1116T>C (n.*1116T>C) c.1799T>C (p.Leu600Pro) c.2060T>C (p.Leu687Pro) c.2159T>C (p.Leu720Pro) n.4345T>C c.266T>C (p.Leu89Pro) c.*961T>C (n.*961T>C) c.2042T>C (p.Leu681Pro) c.2165T>C (p.Leu722Pro) c.1898T>C (p.Leu633Pro) c.1892T>C (p.Leu631Pro) c.1775T>C (p.Leu592Pro) c.2153T>C (p.Leu718Pro) c.1886T>C (p.Leu629Pro) c.1094T>C (p.Leu365Pro) n.2339T>C | dbSNP |
| 8 | g.38414272A>T | CA370729074 | FGFR1 | c.2066T>A (p.Leu689His) c.2054T>A (p.Leu685His) n.2959T>A n.1306T>A n.756T>A c.2246T>A (p.Leu749His) n.2754T>A c.1787T>A (p.Leu596His) c.*1712T>A (n.*1712T>A) c.*2033T>A (n.*2033T>A) n.3560T>A c.1793T>A (p.Leu598His) c.2036T>A (p.Leu679His) c.*1116T>A (n.*1116T>A) c.1799T>A (p.Leu600His) c.2060T>A (p.Leu687His) c.2159T>A (p.Leu720His) n.4345T>A c.266T>A (p.Leu89His) c.*961T>A (n.*961T>A) c.2042T>A (p.Leu681His) c.2165T>A (p.Leu722His) c.1898T>A (p.Leu633His) c.1892T>A (p.Leu631His) c.1775T>A (p.Leu592His) c.2153T>A (p.Leu718His) c.1886T>A (p.Leu629His) c.1094T>A (p.Leu365His) n.2339T>A | dbSNP |
| 8 | g.38414273G>A | CA370729081 | FGFR1 | c.2065C>T (p.Leu689Phe) c.2053C>T (p.Leu685Phe) n.2958C>T n.1305C>T n.755C>T c.2245C>T (p.Leu749Phe) n.2753C>T c.1786C>T (p.Leu596Phe) c.*1711C>T (n.*1711C>T) c.*2032C>T (n.*2032C>T) n.3559C>T c.1792C>T (p.Leu598Phe) c.2035C>T (p.Leu679Phe) c.*1115C>T (n.*1115C>T) c.1798C>T (p.Leu600Phe) c.2059C>T (p.Leu687Phe) c.2158C>T (p.Leu720Phe) n.4344C>T c.265C>T (p.Leu89Phe) c.*960C>T (n.*960C>T) c.2041C>T (p.Leu681Phe) c.2164C>T (p.Leu722Phe) c.1897C>T (p.Leu633Phe) c.1891C>T (p.Leu631Phe) c.1774C>T (p.Leu592Phe) c.2152C>T (p.Leu718Phe) c.1885C>T (p.Leu629Phe) c.1093C>T (p.Leu365Phe) n.2338C>T | dbSNP |
| 8 | g.38414273G>C | CA370729084 | FGFR1 | c.2065C>G (p.Leu689Val) c.2053C>G (p.Leu685Val) n.2958C>G n.1305C>G n.755C>G c.2245C>G (p.Leu749Val) n.2753C>G c.1786C>G (p.Leu596Val) c.*1711C>G (n.*1711C>G) c.*2032C>G (n.*2032C>G) n.3559C>G c.1792C>G (p.Leu598Val) c.2035C>G (p.Leu679Val) c.*1115C>G (n.*1115C>G) c.1798C>G (p.Leu600Val) c.2059C>G (p.Leu687Val) c.2158C>G (p.Leu720Val) n.4344C>G c.265C>G (p.Leu89Val) c.*960C>G (n.*960C>G) c.2041C>G (p.Leu681Val) c.2164C>G (p.Leu722Val) c.1897C>G (p.Leu633Val) c.1891C>G (p.Leu631Val) c.1774C>G (p.Leu592Val) c.2152C>G (p.Leu718Val) c.1885C>G (p.Leu629Val) c.1093C>G (p.Leu365Val) n.2338C>G | dbSNP |
| 8 | g.38414273G>T | CA370729078 | FGFR1 | c.2065C>A (p.Leu689Ile) c.2053C>A (p.Leu685Ile) n.2958C>A n.1305C>A n.755C>A c.2245C>A (p.Leu749Ile) n.2753C>A c.1786C>A (p.Leu596Ile) c.*1711C>A (n.*1711C>A) c.*2032C>A (n.*2032C>A) n.3559C>A c.1792C>A (p.Leu598Ile) c.2035C>A (p.Leu679Ile) c.*1115C>A (n.*1115C>A) c.1798C>A (p.Leu600Ile) c.2059C>A (p.Leu687Ile) c.2158C>A (p.Leu720Ile) n.4344C>A c.265C>A (p.Leu89Ile) c.*960C>A (n.*960C>A) c.2041C>A (p.Leu681Ile) c.2164C>A (p.Leu722Ile) c.1897C>A (p.Leu633Ile) c.1891C>A (p.Leu631Ile) c.1774C>A (p.Leu592Ile) c.2152C>A (p.Leu718Ile) c.1885C>A (p.Leu629Ile) c.1093C>A (p.Leu365Ile) n.2338C>A | |
| 8 | g.38414274C>A | CA460394905 | FGFR1 | c.2064G>T (p.Val688=) c.2052G>T (p.Val684=) n.2957G>T n.1304G>T n.754G>T c.2244G>T (p.Val748=) n.2752G>T c.1785G>T (p.Val595=) c.*1710G>T (n.*1710G>T) c.*2031G>T (n.*2031G>T) n.3558G>T c.1791G>T (p.Val597=) c.2034G>T (p.Val678=) c.*1114G>T (n.*1114G>T) c.1797G>T (p.Val599=) c.2058G>T (p.Val686=) c.2157G>T (p.Val719=) n.4343G>T c.264G>T (p.Val88=) c.*959G>T (n.*959G>T) c.2040G>T (p.Val680=) c.2163G>T (p.Val721=) c.1896G>T (p.Val632=) c.1890G>T (p.Val630=) c.1773G>T (p.Val591=) c.2151G>T (p.Val717=) c.1884G>T (p.Val628=) c.1092G>T (p.Val364=) n.2337G>T | |
| 8 | g.38414274C= | CA1777533996 | FGFR1 | c.2064G= (p.Val688=) c.2052G= (p.Val684=) n.2957G= n.1304G= n.754G= c.2244G= (p.Val748=) n.2752G= c.1785G= (p.Val595=) c.*1710G= (n.*1710G=) c.*2031G= (n.*2031G=) n.3558G= c.1791G= (p.Val597=) c.2034G= (p.Val678=) c.*1114G= (n.*1114G=) c.1797G= (p.Val599=) c.2058G= (p.Val686=) c.2157G= (p.Val719=) n.4343G= c.264G= (p.Val88=) c.*959G= (n.*959G=) c.2040G= (p.Val680=) c.2163G= (p.Val721=) c.1896G= (p.Val632=) c.1890G= (p.Val630=) c.1773G= (p.Val591=) c.2151G= (p.Val717=) c.1884G= (p.Val628=) c.1092G= (p.Val364=) n.2337G= | |
| 8 | g.38414274C>G | CA460394907 | FGFR1 | c.2064G>C (p.Val688=) c.2052G>C (p.Val684=) n.2957G>C n.1304G>C n.754G>C c.2244G>C (p.Val748=) n.2752G>C c.1785G>C (p.Val595=) c.*1710G>C (n.*1710G>C) c.*2031G>C (n.*2031G>C) n.3558G>C c.1791G>C (p.Val597=) c.2034G>C (p.Val678=) c.*1114G>C (n.*1114G>C) c.1797G>C (p.Val599=) c.2058G>C (p.Val686=) c.2157G>C (p.Val719=) n.4343G>C c.264G>C (p.Val88=) c.*959G>C (n.*959G>C) c.2040G>C (p.Val680=) c.2163G>C (p.Val721=) c.1896G>C (p.Val632=) c.1890G>C (p.Val630=) c.1773G>C (p.Val591=) c.2151G>C (p.Val717=) c.1884G>C (p.Val628=) c.1092G>C (p.Val364=) n.2337G>C | |
| 8 | g.38414274C>T | CA460394908 | FGFR1 | c.2064G>A (p.Val688=) c.2052G>A (p.Val684=) n.2957G>A n.1304G>A n.754G>A c.2244G>A (p.Val748=) n.2752G>A c.1785G>A (p.Val595=) c.*1710G>A (n.*1710G>A) c.*2031G>A (n.*2031G>A) n.3558G>A c.1791G>A (p.Val597=) c.2034G>A (p.Val678=) c.*1114G>A (n.*1114G>A) c.1797G>A (p.Val599=) c.2058G>A (p.Val686=) c.2157G>A (p.Val719=) n.4343G>A c.264G>A (p.Val88=) c.*959G>A (n.*959G>A) c.2040G>A (p.Val680=) c.2163G>A (p.Val721=) c.1896G>A (p.Val632=) c.1890G>A (p.Val630=) c.1773G>A (p.Val591=) c.2151G>A (p.Val717=) c.1884G>A (p.Val628=) c.1092G>A (p.Val364=) n.2337G>A | dbSNP |
| 8 | g.38414275A>C | CA370729089 | FGFR1 | c.2063T>G (p.Val688Gly) c.2051T>G (p.Val684Gly) n.2956T>G n.1303T>G n.753T>G c.2243T>G (p.Val748Gly) n.2751T>G c.1784T>G (p.Val595Gly) c.*1709T>G (n.*1709T>G) c.*2030T>G (n.*2030T>G) n.3557T>G c.1790T>G (p.Val597Gly) c.2033T>G (p.Val678Gly) c.*1113T>G (n.*1113T>G) c.1796T>G (p.Val599Gly) c.2057T>G (p.Val686Gly) c.2156T>G (p.Val719Gly) n.4342T>G c.263T>G (p.Val88Gly) c.*958T>G (n.*958T>G) c.2039T>G (p.Val680Gly) c.2162T>G (p.Val721Gly) c.1895T>G (p.Val632Gly) c.1889T>G (p.Val630Gly) c.1772T>G (p.Val591Gly) c.2150T>G (p.Val717Gly) c.1883T>G (p.Val628Gly) c.1091T>G (p.Val364Gly) n.2336T>G | |
| 8 | g.38414275A>G | CA370729092 | FGFR1 | c.2063T>C (p.Val688Ala) c.2051T>C (p.Val684Ala) n.2956T>C n.1303T>C n.753T>C c.2243T>C (p.Val748Ala) n.2751T>C c.1784T>C (p.Val595Ala) c.*1709T>C (n.*1709T>C) c.*2030T>C (n.*2030T>C) n.3557T>C c.1790T>C (p.Val597Ala) c.2033T>C (p.Val678Ala) c.*1113T>C (n.*1113T>C) c.1796T>C (p.Val599Ala) c.2057T>C (p.Val686Ala) c.2156T>C (p.Val719Ala) n.4342T>C c.263T>C (p.Val88Ala) c.*958T>C (n.*958T>C) c.2039T>C (p.Val680Ala) c.2162T>C (p.Val721Ala) c.1895T>C (p.Val632Ala) c.1889T>C (p.Val630Ala) c.1772T>C (p.Val591Ala) c.2150T>C (p.Val717Ala) c.1883T>C (p.Val628Ala) c.1091T>C (p.Val364Ala) n.2336T>C | |
| 8 | g.38414275A>T | CA370729095 | FGFR1 | c.2063T>A (p.Val688Glu) c.2051T>A (p.Val684Glu) n.2956T>A n.1303T>A n.753T>A c.2243T>A (p.Val748Glu) n.2751T>A c.1784T>A (p.Val595Glu) c.*1709T>A (n.*1709T>A) c.*2030T>A (n.*2030T>A) n.3557T>A c.1790T>A (p.Val597Glu) c.2033T>A (p.Val678Glu) c.*1113T>A (n.*1113T>A) c.1796T>A (p.Val599Glu) c.2057T>A (p.Val686Glu) c.2156T>A (p.Val719Glu) n.4342T>A c.263T>A (p.Val88Glu) c.*958T>A (n.*958T>A) c.2039T>A (p.Val680Glu) c.2162T>A (p.Val721Glu) c.1895T>A (p.Val632Glu) c.1889T>A (p.Val630Glu) c.1772T>A (p.Val591Glu) c.2150T>A (p.Val717Glu) c.1883T>A (p.Val628Glu) c.1091T>A (p.Val364Glu) n.2336T>A | dbSNP |
| 8 | g.38414276C>A | CA370729098 | FGFR1 | c.2062G>T (p.Val688Leu) c.2050G>T (p.Val684Leu) n.2955G>T n.1302G>T n.752G>T c.2242G>T (p.Val748Leu) n.2750G>T c.1783G>T (p.Val595Leu) c.*1708G>T (n.*1708G>T) c.*2029G>T (n.*2029G>T) n.3556G>T c.1789G>T (p.Val597Leu) c.2032G>T (p.Val678Leu) c.*1112G>T (n.*1112G>T) c.1795G>T (p.Val599Leu) c.2056G>T (p.Val686Leu) c.2155G>T (p.Val719Leu) n.4341G>T c.262G>T (p.Val88Leu) c.*957G>T (n.*957G>T) c.2038G>T (p.Val680Leu) c.2161G>T (p.Val721Leu) c.1894G>T (p.Val632Leu) c.1888G>T (p.Val630Leu) c.1771G>T (p.Val591Leu) c.2149G>T (p.Val717Leu) c.1882G>T (p.Val628Leu) c.1090G>T (p.Val364Leu) n.2335G>T | ClinVar |
| 8 | g.38414276C= | CA1777534000 | FGFR1 | c.2062G= (p.Val688=) c.2050G= (p.Val684=) n.2955G= n.1302G= n.752G= c.2242G= (p.Val748=) n.2750G= c.1783G= (p.Val595=) c.*1708G= (n.*1708G=) c.*2029G= (n.*2029G=) n.3556G= c.1789G= (p.Val597=) c.2032G= (p.Val678=) c.*1112G= (n.*1112G=) c.1795G= (p.Val599=) c.2056G= (p.Val686=) c.2155G= (p.Val719=) n.4341G= c.262G= (p.Val88=) c.*957G= (n.*957G=) c.2038G= (p.Val680=) c.2161G= (p.Val721=) c.1894G= (p.Val632=) c.1888G= (p.Val630=) c.1771G= (p.Val591=) c.2149G= (p.Val717=) c.1882G= (p.Val628=) c.1090G= (p.Val364=) n.2335G= | |
| 8 | g.38414276C>G | CA16042715 | FGFR1 | c.2062G>C (p.Val688Leu) c.2050G>C (p.Val684Leu) n.2955G>C n.1302G>C n.752G>C c.2242G>C (p.Val748Leu) n.2750G>C c.1783G>C (p.Val595Leu) c.*1708G>C (n.*1708G>C) c.*2029G>C (n.*2029G>C) n.3556G>C c.1789G>C (p.Val597Leu) c.2032G>C (p.Val678Leu) c.*1112G>C (n.*1112G>C) c.1795G>C (p.Val599Leu) c.2056G>C (p.Val686Leu) c.2155G>C (p.Val719Leu) n.4341G>C c.262G>C (p.Val88Leu) c.*957G>C (n.*957G>C) c.2038G>C (p.Val680Leu) c.2161G>C (p.Val721Leu) c.1894G>C (p.Val632Leu) c.1888G>C (p.Val630Leu) c.1771G>C (p.Val591Leu) c.2149G>C (p.Val717Leu) c.1882G>C (p.Val628Leu) c.1090G>C (p.Val364Leu) n.2335G>C | ClinVar dbSNP |
| 8 | g.38414276C>T | CA370729103 | FGFR1 | c.2062G>A (p.Val688Met) c.2050G>A (p.Val684Met) n.2955G>A n.1302G>A n.752G>A c.2242G>A (p.Val748Met) n.2750G>A c.1783G>A (p.Val595Met) c.*1708G>A (n.*1708G>A) c.*2029G>A (n.*2029G>A) n.3556G>A c.1789G>A (p.Val597Met) c.2032G>A (p.Val678Met) c.*1112G>A (n.*1112G>A) c.1795G>A (p.Val599Met) c.2056G>A (p.Val686Met) c.2155G>A (p.Val719Met) n.4341G>A c.262G>A (p.Val88Met) c.*957G>A (n.*957G>A) c.2038G>A (p.Val680Met) c.2161G>A (p.Val721Met) c.1894G>A (p.Val632Met) c.1888G>A (p.Val630Met) c.1771G>A (p.Val591Met) c.2149G>A (p.Val717Met) c.1882G>A (p.Val628Met) c.1090G>A (p.Val364Met) n.2335G>A | |
| 8 | g.38414277C>A | CA460394918 | FGFR1 | c.2061G>T (p.Gly687=) c.2049G>T (p.Gly683=) n.2954G>T n.1301G>T n.751G>T c.2241G>T (p.Gly747=) n.2749G>T c.1782G>T (p.Gly594=) c.*1707G>T (n.*1707G>T) c.*2028G>T (n.*2028G>T) n.3555G>T c.1788G>T (p.Gly596=) c.2031G>T (p.Gly677=) c.*1111G>T (n.*1111G>T) c.1794G>T (p.Gly598=) c.2055G>T (p.Gly685=) c.2154G>T (p.Gly718=) n.4340G>T c.261G>T (p.Gly87=) c.*956G>T (n.*956G>T) c.2037G>T (p.Gly679=) c.2160G>T (p.Gly720=) c.1893G>T (p.Gly631=) c.1887G>T (p.Gly629=) c.1770G>T (p.Gly590=) c.2148G>T (p.Gly716=) c.1881G>T (p.Gly627=) c.1089G>T (p.Gly363=) n.2334G>T | dbSNP |
| 8 | g.38414277C= | CA1777534006 | FGFR1 | c.2061G= (p.Gly687=) c.2049G= (p.Gly683=) n.2954G= n.1301G= n.751G= c.2241G= (p.Gly747=) n.2749G= c.1782G= (p.Gly594=) c.*1707G= (n.*1707G=) c.*2028G= (n.*2028G=) n.3555G= c.1788G= (p.Gly596=) c.2031G= (p.Gly677=) c.*1111G= (n.*1111G=) c.1794G= (p.Gly598=) c.2055G= (p.Gly685=) c.2154G= (p.Gly718=) n.4340G= c.261G= (p.Gly87=) c.*956G= (n.*956G=) c.2037G= (p.Gly679=) c.2160G= (p.Gly720=) c.1893G= (p.Gly631=) c.1887G= (p.Gly629=) c.1770G= (p.Gly590=) c.2148G= (p.Gly716=) c.1881G= (p.Gly627=) c.1089G= (p.Gly363=) n.2334G= | |
| 8 | g.38414277C>G | CA460394920 | FGFR1 | c.2061G>C (p.Gly687=) c.2049G>C (p.Gly683=) n.2954G>C n.1301G>C n.751G>C c.2241G>C (p.Gly747=) n.2749G>C c.1782G>C (p.Gly594=) c.*1707G>C (n.*1707G>C) c.*2028G>C (n.*2028G>C) n.3555G>C c.1788G>C (p.Gly596=) c.2031G>C (p.Gly677=) c.*1111G>C (n.*1111G>C) c.1794G>C (p.Gly598=) c.2055G>C (p.Gly685=) c.2154G>C (p.Gly718=) n.4340G>C c.261G>C (p.Gly87=) c.*956G>C (n.*956G>C) c.2037G>C (p.Gly679=) c.2160G>C (p.Gly720=) c.1893G>C (p.Gly631=) c.1887G>C (p.Gly629=) c.1770G>C (p.Gly590=) c.2148G>C (p.Gly716=) c.1881G>C (p.Gly627=) c.1089G>C (p.Gly363=) n.2334G>C | ClinVar dbSNP |
| 8 | g.38414277C>T | CA460394922 | FGFR1 | c.2061G>A (p.Gly687=) c.2049G>A (p.Gly683=) n.2954G>A n.1301G>A n.751G>A c.2241G>A (p.Gly747=) n.2749G>A c.1782G>A (p.Gly594=) c.*1707G>A (n.*1707G>A) c.*2028G>A (n.*2028G>A) n.3555G>A c.1788G>A (p.Gly596=) c.2031G>A (p.Gly677=) c.*1111G>A (n.*1111G>A) c.1794G>A (p.Gly598=) c.2055G>A (p.Gly685=) c.2154G>A (p.Gly718=) n.4340G>A c.261G>A (p.Gly87=) c.*956G>A (n.*956G>A) c.2037G>A (p.Gly679=) c.2160G>A (p.Gly720=) c.1893G>A (p.Gly631=) c.1887G>A (p.Gly629=) c.1770G>A (p.Gly590=) c.2148G>A (p.Gly716=) c.1881G>A (p.Gly627=) c.1089G>A (p.Gly363=) n.2334G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.38414278C>A | CA370729107 | FGFR1 | c.2060G>T (p.Gly687Val) c.2048G>T (p.Gly683Val) n.2953G>T n.1300G>T n.750G>T c.2240G>T (p.Gly747Val) n.2748G>T c.1781G>T (p.Gly594Val) c.*1706G>T (n.*1706G>T) c.*2027G>T (n.*2027G>T) n.3554G>T c.1787G>T (p.Gly596Val) c.2030G>T (p.Gly677Val) c.*1110G>T (n.*1110G>T) c.1793G>T (p.Gly598Val) c.2054G>T (p.Gly685Val) c.2153G>T (p.Gly718Val) n.4339G>T c.260G>T (p.Gly87Val) c.*955G>T (n.*955G>T) c.2036G>T (p.Gly679Val) c.2159G>T (p.Gly720Val) c.1892G>T (p.Gly631Val) c.1886G>T (p.Gly629Val) c.1769G>T (p.Gly590Val) c.2147G>T (p.Gly716Val) c.1880G>T (p.Gly627Val) c.1088G>T (p.Gly363Val) n.2333G>T | dbSNP |
| 8 | g.38414278C>G | CA370729114 | FGFR1 | c.2060G>C (p.Gly687Ala) c.2048G>C (p.Gly683Ala) n.2953G>C n.1300G>C n.750G>C c.2240G>C (p.Gly747Ala) n.2748G>C c.1781G>C (p.Gly594Ala) c.*1706G>C (n.*1706G>C) c.*2027G>C (n.*2027G>C) n.3554G>C c.1787G>C (p.Gly596Ala) c.2030G>C (p.Gly677Ala) c.*1110G>C (n.*1110G>C) c.1793G>C (p.Gly598Ala) c.2054G>C (p.Gly685Ala) c.2153G>C (p.Gly718Ala) n.4339G>C c.260G>C (p.Gly87Ala) c.*955G>C (n.*955G>C) c.2036G>C (p.Gly679Ala) c.2159G>C (p.Gly720Ala) c.1892G>C (p.Gly631Ala) c.1886G>C (p.Gly629Ala) c.1769G>C (p.Gly590Ala) c.2147G>C (p.Gly716Ala) c.1880G>C (p.Gly627Ala) c.1088G>C (p.Gly363Ala) n.2333G>C | dbSNP |