Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.38413642_38418900dupCA2580614557FGFR1c.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
8g.38413719_38419638dupCA2740094990FGFR1c.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
8g.38414772C>ACA2717027804FGFR1c.1977+7G>T (n.1977+7G>T)
c.1965+7G>T (n.1965+7G>T)
n.2870+7G>T
n.806G>T
n.667+7G>T
c.2157+7G>T (n.2157+7G>T)
n.2665+7G>T
c.1698+7G>T (n.1698+7G>T)
c.*1623+7G>T (n.*1623+7G>T)
c.*1944+7G>T (n.*1944+7G>T)
n.3471+7G>T
c.1704+7G>T (n.1704+7G>T)
c.1947+7G>T (n.1947+7G>T)
c.*1027+7G>T (n.*1027+7G>T)
c.1710+7G>T (n.1710+7G>T)
c.1971+7G>T (n.1971+7G>T)
c.2070+7G>T (n.2070+7G>T)
n.4256+7G>T
c.177+7G>T (n.177+7G>T)
n.523+7G>T
c.*872+7G>T (n.*872+7G>T)
c.1953+7G>T (n.1953+7G>T)
c.2076+7G>T (n.2076+7G>T)
c.1809+7G>T (n.1809+7G>T)
c.1803+7G>T (n.1803+7G>T)
c.1686+7G>T (n.1686+7G>T)
c.2064+7G>T (n.2064+7G>T)
c.1797+7G>T (n.1797+7G>T)
c.1005+7G>T (n.1005+7G>T)
n.2250+7G>T
dbSNP
8g.38414772C>GCA2717027805FGFR1c.1977+7G>C (n.1977+7G>C)
c.1965+7G>C (n.1965+7G>C)
n.2870+7G>C
n.806G>C
n.667+7G>C
c.2157+7G>C (n.2157+7G>C)
n.2665+7G>C
c.1698+7G>C (n.1698+7G>C)
c.*1623+7G>C (n.*1623+7G>C)
c.*1944+7G>C (n.*1944+7G>C)
n.3471+7G>C
c.1704+7G>C (n.1704+7G>C)
c.1947+7G>C (n.1947+7G>C)
c.*1027+7G>C (n.*1027+7G>C)
c.1710+7G>C (n.1710+7G>C)
c.1971+7G>C (n.1971+7G>C)
c.2070+7G>C (n.2070+7G>C)
n.4256+7G>C
c.177+7G>C (n.177+7G>C)
n.523+7G>C
c.*872+7G>C (n.*872+7G>C)
c.1953+7G>C (n.1953+7G>C)
c.2076+7G>C (n.2076+7G>C)
c.1809+7G>C (n.1809+7G>C)
c.1803+7G>C (n.1803+7G>C)
c.1686+7G>C (n.1686+7G>C)
c.2064+7G>C (n.2064+7G>C)
c.1797+7G>C (n.1797+7G>C)
c.1005+7G>C (n.1005+7G>C)
n.2250+7G>C
dbSNP
8g.38414772C>TCA2717027806FGFR1c.1977+7G>A (n.1977+7G>A)
c.1965+7G>A (n.1965+7G>A)
n.2870+7G>A
n.806G>A
n.667+7G>A
c.2157+7G>A (n.2157+7G>A)
n.2665+7G>A
c.1698+7G>A (n.1698+7G>A)
c.*1623+7G>A (n.*1623+7G>A)
c.*1944+7G>A (n.*1944+7G>A)
n.3471+7G>A
c.1704+7G>A (n.1704+7G>A)
c.1947+7G>A (n.1947+7G>A)
c.*1027+7G>A (n.*1027+7G>A)
c.1710+7G>A (n.1710+7G>A)
c.1971+7G>A (n.1971+7G>A)
c.2070+7G>A (n.2070+7G>A)
n.4256+7G>A
c.177+7G>A (n.177+7G>A)
n.523+7G>A
c.*872+7G>A (n.*872+7G>A)
c.1953+7G>A (n.1953+7G>A)
c.2076+7G>A (n.2076+7G>A)
c.1809+7G>A (n.1809+7G>A)
c.1803+7G>A (n.1803+7G>A)
c.1686+7G>A (n.1686+7G>A)
c.2064+7G>A (n.2064+7G>A)
c.1797+7G>A (n.1797+7G>A)
c.1005+7G>A (n.1005+7G>A)
n.2250+7G>A
dbSNP
8g.38414773A>CCA2717027807FGFR1c.1977+6T>G (n.1977+6T>G)
c.1965+6T>G (n.1965+6T>G)
n.2870+6T>G
n.805T>G
n.667+6T>G
c.2157+6T>G (n.2157+6T>G)
n.2665+6T>G
c.1698+6T>G (n.1698+6T>G)
c.*1623+6T>G (n.*1623+6T>G)
c.*1944+6T>G (n.*1944+6T>G)
n.3471+6T>G
c.1704+6T>G (n.1704+6T>G)
c.1947+6T>G (n.1947+6T>G)
c.*1027+6T>G (n.*1027+6T>G)
c.1710+6T>G (n.1710+6T>G)
c.1971+6T>G (n.1971+6T>G)
c.2070+6T>G (n.2070+6T>G)
n.4256+6T>G
c.177+6T>G (n.177+6T>G)
n.523+6T>G
c.*872+6T>G (n.*872+6T>G)
c.1953+6T>G (n.1953+6T>G)
c.2076+6T>G (n.2076+6T>G)
c.1809+6T>G (n.1809+6T>G)
c.1803+6T>G (n.1803+6T>G)
c.1686+6T>G (n.1686+6T>G)
c.2064+6T>G (n.2064+6T>G)
c.1797+6T>G (n.1797+6T>G)
c.1005+6T>G (n.1005+6T>G)
n.2250+6T>G
dbSNP
8g.38414773A>TCA2717027808FGFR1c.1977+6T>A (n.1977+6T>A)
c.1965+6T>A (n.1965+6T>A)
n.2870+6T>A
n.805T>A
n.667+6T>A
c.2157+6T>A (n.2157+6T>A)
n.2665+6T>A
c.1698+6T>A (n.1698+6T>A)
c.*1623+6T>A (n.*1623+6T>A)
c.*1944+6T>A (n.*1944+6T>A)
n.3471+6T>A
c.1704+6T>A (n.1704+6T>A)
c.1947+6T>A (n.1947+6T>A)
c.*1027+6T>A (n.*1027+6T>A)
c.1710+6T>A (n.1710+6T>A)
c.1971+6T>A (n.1971+6T>A)
c.2070+6T>A (n.2070+6T>A)
n.4256+6T>A
c.177+6T>A (n.177+6T>A)
n.523+6T>A
c.*872+6T>A (n.*872+6T>A)
c.1953+6T>A (n.1953+6T>A)
c.2076+6T>A (n.2076+6T>A)
c.1809+6T>A (n.1809+6T>A)
c.1803+6T>A (n.1803+6T>A)
c.1686+6T>A (n.1686+6T>A)
c.2064+6T>A (n.2064+6T>A)
c.1797+6T>A (n.1797+6T>A)
c.1005+6T>A (n.1005+6T>A)
n.2250+6T>A
dbSNP
8g.38414774C>GCA2717027809FGFR1c.1977+5G>C (n.1977+5G>C)
c.1965+5G>C (n.1965+5G>C)
n.2870+5G>C
n.804G>C
n.667+5G>C
c.2157+5G>C (n.2157+5G>C)
n.2665+5G>C
c.1698+5G>C (n.1698+5G>C)
c.*1623+5G>C (n.*1623+5G>C)
c.*1944+5G>C (n.*1944+5G>C)
n.3471+5G>C
c.1704+5G>C (n.1704+5G>C)
c.1947+5G>C (n.1947+5G>C)
c.*1027+5G>C (n.*1027+5G>C)
c.1710+5G>C (n.1710+5G>C)
c.1971+5G>C (n.1971+5G>C)
c.2070+5G>C (n.2070+5G>C)
n.4256+5G>C
c.177+5G>C (n.177+5G>C)
n.523+5G>C
c.*872+5G>C (n.*872+5G>C)
c.1953+5G>C (n.1953+5G>C)
c.2076+5G>C (n.2076+5G>C)
c.1809+5G>C (n.1809+5G>C)
c.1803+5G>C (n.1803+5G>C)
c.1686+5G>C (n.1686+5G>C)
c.2064+5G>C (n.2064+5G>C)
c.1797+5G>C (n.1797+5G>C)
c.1005+5G>C (n.1005+5G>C)
n.2250+5G>C
dbSNP
8g.38414774C>TCA2695209144FGFR1c.1977+5G>A (n.1977+5G>A)
c.1965+5G>A (n.1965+5G>A)
n.2870+5G>A
n.804G>A
n.667+5G>A
c.2157+5G>A (n.2157+5G>A)
n.2665+5G>A
c.1698+5G>A (n.1698+5G>A)
c.*1623+5G>A (n.*1623+5G>A)
c.*1944+5G>A (n.*1944+5G>A)
n.3471+5G>A
c.1704+5G>A (n.1704+5G>A)
c.1947+5G>A (n.1947+5G>A)
c.*1027+5G>A (n.*1027+5G>A)
c.1710+5G>A (n.1710+5G>A)
c.1971+5G>A (n.1971+5G>A)
c.2070+5G>A (n.2070+5G>A)
n.4256+5G>A
c.177+5G>A (n.177+5G>A)
n.523+5G>A
c.*872+5G>A (n.*872+5G>A)
c.1953+5G>A (n.1953+5G>A)
c.2076+5G>A (n.2076+5G>A)
c.1809+5G>A (n.1809+5G>A)
c.1803+5G>A (n.1803+5G>A)
c.1686+5G>A (n.1686+5G>A)
c.2064+5G>A (n.2064+5G>A)
c.1797+5G>A (n.1797+5G>A)
c.1005+5G>A (n.1005+5G>A)
n.2250+5G>A
dbSNP
8g.38414775T>ACA658797082FGFR1c.1977+4A>T (n.1977+4A>T)
c.1965+4A>T (n.1965+4A>T)
n.2870+4A>T
n.803A>T
n.667+4A>T
c.2157+4A>T (n.2157+4A>T)
n.2665+4A>T
c.1698+4A>T (n.1698+4A>T)
c.*1623+4A>T (n.*1623+4A>T)
c.*1944+4A>T (n.*1944+4A>T)
n.3471+4A>T
c.1704+4A>T (n.1704+4A>T)
c.1947+4A>T (n.1947+4A>T)
c.*1027+4A>T (n.*1027+4A>T)
c.1710+4A>T (n.1710+4A>T)
c.1971+4A>T (n.1971+4A>T)
c.2070+4A>T (n.2070+4A>T)
n.4256+4A>T
c.177+4A>T (n.177+4A>T)
n.523+4A>T
c.*872+4A>T (n.*872+4A>T)
c.1953+4A>T (n.1953+4A>T)
c.2076+4A>T (n.2076+4A>T)
c.1809+4A>T (n.1809+4A>T)
c.1803+4A>T (n.1803+4A>T)
c.1686+4A>T (n.1686+4A>T)
c.2064+4A>T (n.2064+4A>T)
c.1797+4A>T (n.1797+4A>T)
c.1005+4A>T (n.1005+4A>T)
n.2250+4A>T
ClinVar dbSNP
8g.38414775T>CCA2716692717FGFR1c.1977+4A>G (n.1977+4A>G)
c.1965+4A>G (n.1965+4A>G)
n.2870+4A>G
n.803A>G
n.667+4A>G
c.2157+4A>G (n.2157+4A>G)
n.2665+4A>G
c.1698+4A>G (n.1698+4A>G)
c.*1623+4A>G (n.*1623+4A>G)
c.*1944+4A>G (n.*1944+4A>G)
n.3471+4A>G
c.1704+4A>G (n.1704+4A>G)
c.1947+4A>G (n.1947+4A>G)
c.*1027+4A>G (n.*1027+4A>G)
c.1710+4A>G (n.1710+4A>G)
c.1971+4A>G (n.1971+4A>G)
c.2070+4A>G (n.2070+4A>G)
n.4256+4A>G
c.177+4A>G (n.177+4A>G)
n.523+4A>G
c.*872+4A>G (n.*872+4A>G)
c.1953+4A>G (n.1953+4A>G)
c.2076+4A>G (n.2076+4A>G)
c.1809+4A>G (n.1809+4A>G)
c.1803+4A>G (n.1803+4A>G)
c.1686+4A>G (n.1686+4A>G)
c.2064+4A>G (n.2064+4A>G)
c.1797+4A>G (n.1797+4A>G)
c.1005+4A>G (n.1005+4A>G)
n.2250+4A>G
dbSNP
8g.38414775T=CA1777534720FGFR1c.1977+4A= (n.1977+4A=)
c.1965+4A= (n.1965+4A=)
n.2870+4A=
n.803A=
n.667+4A=
c.2157+4A= (n.2157+4A=)
n.2665+4A=
c.1698+4A= (n.1698+4A=)
c.*1623+4A= (n.*1623+4A=)
c.*1944+4A= (n.*1944+4A=)
n.3471+4A=
c.1704+4A= (n.1704+4A=)
c.1947+4A= (n.1947+4A=)
c.*1027+4A= (n.*1027+4A=)
c.1710+4A= (n.1710+4A=)
c.1971+4A= (n.1971+4A=)
c.2070+4A= (n.2070+4A=)
n.4256+4A=
c.177+4A= (n.177+4A=)
n.523+4A=
c.*872+4A= (n.*872+4A=)
c.1953+4A= (n.1953+4A=)
c.2076+4A= (n.2076+4A=)
c.1809+4A= (n.1809+4A=)
c.1803+4A= (n.1803+4A=)
c.1686+4A= (n.1686+4A=)
c.2064+4A= (n.2064+4A=)
c.1797+4A= (n.1797+4A=)
c.1005+4A= (n.1005+4A=)
n.2250+4A=
8g.38414776C>ACA2717027810FGFR1c.1977+3G>T (n.1977+3G>T)
c.1965+3G>T (n.1965+3G>T)
n.2870+3G>T
n.802G>T
n.667+3G>T
c.2157+3G>T (n.2157+3G>T)
n.2665+3G>T
c.1698+3G>T (n.1698+3G>T)
c.*1623+3G>T (n.*1623+3G>T)
c.*1944+3G>T (n.*1944+3G>T)
n.3471+3G>T
c.1704+3G>T (n.1704+3G>T)
c.1947+3G>T (n.1947+3G>T)
c.*1027+3G>T (n.*1027+3G>T)
c.1710+3G>T (n.1710+3G>T)
c.1971+3G>T (n.1971+3G>T)
c.2070+3G>T (n.2070+3G>T)
n.4256+3G>T
c.177+3G>T (n.177+3G>T)
n.523+3G>T
c.*872+3G>T (n.*872+3G>T)
c.1953+3G>T (n.1953+3G>T)
c.2076+3G>T (n.2076+3G>T)
c.1809+3G>T (n.1809+3G>T)
c.1803+3G>T (n.1803+3G>T)
c.1686+3G>T (n.1686+3G>T)
c.2064+3G>T (n.2064+3G>T)
c.1797+3G>T (n.1797+3G>T)
c.1005+3G>T (n.1005+3G>T)
n.2250+3G>T
dbSNP
8g.38414776C>GCA2717027811FGFR1c.1977+3G>C (n.1977+3G>C)
c.1965+3G>C (n.1965+3G>C)
n.2870+3G>C
n.802G>C
n.667+3G>C
c.2157+3G>C (n.2157+3G>C)
n.2665+3G>C
c.1698+3G>C (n.1698+3G>C)
c.*1623+3G>C (n.*1623+3G>C)
c.*1944+3G>C (n.*1944+3G>C)
n.3471+3G>C
c.1704+3G>C (n.1704+3G>C)
c.1947+3G>C (n.1947+3G>C)
c.*1027+3G>C (n.*1027+3G>C)
c.1710+3G>C (n.1710+3G>C)
c.1971+3G>C (n.1971+3G>C)
c.2070+3G>C (n.2070+3G>C)
n.4256+3G>C
c.177+3G>C (n.177+3G>C)
n.523+3G>C
c.*872+3G>C (n.*872+3G>C)
c.1953+3G>C (n.1953+3G>C)
c.2076+3G>C (n.2076+3G>C)
c.1809+3G>C (n.1809+3G>C)
c.1803+3G>C (n.1803+3G>C)
c.1686+3G>C (n.1686+3G>C)
c.2064+3G>C (n.2064+3G>C)
c.1797+3G>C (n.1797+3G>C)
c.1005+3G>C (n.1005+3G>C)
n.2250+3G>C
dbSNP
8g.38414776C>TCA2717027812FGFR1c.1977+3G>A (n.1977+3G>A)
c.1965+3G>A (n.1965+3G>A)
n.2870+3G>A
n.802G>A
n.667+3G>A
c.2157+3G>A (n.2157+3G>A)
n.2665+3G>A
c.1698+3G>A (n.1698+3G>A)
c.*1623+3G>A (n.*1623+3G>A)
c.*1944+3G>A (n.*1944+3G>A)
n.3471+3G>A
c.1704+3G>A (n.1704+3G>A)
c.1947+3G>A (n.1947+3G>A)
c.*1027+3G>A (n.*1027+3G>A)
c.1710+3G>A (n.1710+3G>A)
c.1971+3G>A (n.1971+3G>A)
c.2070+3G>A (n.2070+3G>A)
n.4256+3G>A
c.177+3G>A (n.177+3G>A)
n.523+3G>A
c.*872+3G>A (n.*872+3G>A)
c.1953+3G>A (n.1953+3G>A)
c.2076+3G>A (n.2076+3G>A)
c.1809+3G>A (n.1809+3G>A)
c.1803+3G>A (n.1803+3G>A)
c.1686+3G>A (n.1686+3G>A)
c.2064+3G>A (n.2064+3G>A)
c.1797+3G>A (n.1797+3G>A)
c.1005+3G>A (n.1005+3G>A)
n.2250+3G>A
dbSNP
8g.38414777A>CCA370729937FGFR1c.1977+2T>G (n.1977+2T>G)
c.1965+2T>G (n.1965+2T>G)
n.2870+2T>G
n.801T>G
n.667+2T>G
c.2157+2T>G (n.2157+2T>G)
n.2665+2T>G
c.1698+2T>G (n.1698+2T>G)
c.*1623+2T>G (n.*1623+2T>G)
c.*1944+2T>G (n.*1944+2T>G)
n.3471+2T>G
c.1704+2T>G (n.1704+2T>G)
c.1947+2T>G (n.1947+2T>G)
c.*1027+2T>G (n.*1027+2T>G)
c.1710+2T>G (n.1710+2T>G)
c.1971+2T>G (n.1971+2T>G)
c.2070+2T>G (n.2070+2T>G)
n.4256+2T>G
c.177+2T>G (n.177+2T>G)
n.523+2T>G
c.*872+2T>G (n.*872+2T>G)
c.1953+2T>G (n.1953+2T>G)
c.2076+2T>G (n.2076+2T>G)
c.1809+2T>G (n.1809+2T>G)
c.1803+2T>G (n.1803+2T>G)
c.1686+2T>G (n.1686+2T>G)
c.2064+2T>G (n.2064+2T>G)
c.1797+2T>G (n.1797+2T>G)
c.1005+2T>G (n.1005+2T>G)
n.2250+2T>G
8g.38414777A>GCA370729942FGFR1c.1977+2T>C (n.1977+2T>C)
c.1965+2T>C (n.1965+2T>C)
n.2870+2T>C
n.801T>C
n.667+2T>C
c.2157+2T>C (n.2157+2T>C)
n.2665+2T>C
c.1698+2T>C (n.1698+2T>C)
c.*1623+2T>C (n.*1623+2T>C)
c.*1944+2T>C (n.*1944+2T>C)
n.3471+2T>C
c.1704+2T>C (n.1704+2T>C)
c.1947+2T>C (n.1947+2T>C)
c.*1027+2T>C (n.*1027+2T>C)
c.1710+2T>C (n.1710+2T>C)
c.1971+2T>C (n.1971+2T>C)
c.2070+2T>C (n.2070+2T>C)
n.4256+2T>C
c.177+2T>C (n.177+2T>C)
n.523+2T>C
c.*872+2T>C (n.*872+2T>C)
c.1953+2T>C (n.1953+2T>C)
c.2076+2T>C (n.2076+2T>C)
c.1809+2T>C (n.1809+2T>C)
c.1803+2T>C (n.1803+2T>C)
c.1686+2T>C (n.1686+2T>C)
c.2064+2T>C (n.2064+2T>C)
c.1797+2T>C (n.1797+2T>C)
c.1005+2T>C (n.1005+2T>C)
n.2250+2T>C
8g.38414777A>TCA370729940FGFR1c.1977+2T>A (n.1977+2T>A)
c.1965+2T>A (n.1965+2T>A)
n.2870+2T>A
n.801T>A
n.667+2T>A
c.2157+2T>A (n.2157+2T>A)
n.2665+2T>A
c.1698+2T>A (n.1698+2T>A)
c.*1623+2T>A (n.*1623+2T>A)
c.*1944+2T>A (n.*1944+2T>A)
n.3471+2T>A
c.1704+2T>A (n.1704+2T>A)
c.1947+2T>A (n.1947+2T>A)
c.*1027+2T>A (n.*1027+2T>A)
c.1710+2T>A (n.1710+2T>A)
c.1971+2T>A (n.1971+2T>A)
c.2070+2T>A (n.2070+2T>A)
n.4256+2T>A
c.177+2T>A (n.177+2T>A)
n.523+2T>A
c.*872+2T>A (n.*872+2T>A)
c.1953+2T>A (n.1953+2T>A)
c.2076+2T>A (n.2076+2T>A)
c.1809+2T>A (n.1809+2T>A)
c.1803+2T>A (n.1803+2T>A)
c.1686+2T>A (n.1686+2T>A)
c.2064+2T>A (n.2064+2T>A)
c.1797+2T>A (n.1797+2T>A)
c.1005+2T>A (n.1005+2T>A)
n.2250+2T>A
dbSNP
8g.38414778C>ACA370729947FGFR1c.1977+1G>T (n.1977+1G>T)
c.1965+1G>T (n.1965+1G>T)
n.2870+1G>T
n.800G>T
n.667+1G>T
c.2157+1G>T (n.2157+1G>T)
n.2665+1G>T
c.1698+1G>T (n.1698+1G>T)
c.*1623+1G>T (n.*1623+1G>T)
c.*1944+1G>T (n.*1944+1G>T)
n.3471+1G>T
c.1704+1G>T (n.1704+1G>T)
c.1947+1G>T (n.1947+1G>T)
c.*1027+1G>T (n.*1027+1G>T)
c.1710+1G>T (n.1710+1G>T)
c.1971+1G>T (n.1971+1G>T)
c.2070+1G>T (n.2070+1G>T)
n.4256+1G>T
c.177+1G>T (n.177+1G>T)
n.523+1G>T
c.*872+1G>T (n.*872+1G>T)
c.1953+1G>T (n.1953+1G>T)
c.2076+1G>T (n.2076+1G>T)
c.1809+1G>T (n.1809+1G>T)
c.1803+1G>T (n.1803+1G>T)
c.1686+1G>T (n.1686+1G>T)
c.2064+1G>T (n.2064+1G>T)
c.1797+1G>T (n.1797+1G>T)
c.1005+1G>T (n.1005+1G>T)
n.2250+1G>T
ClinVar dbSNP
8g.38414778C=CA1777534722FGFR1c.1977+1G= (n.1977+1G=)
c.1965+1G= (n.1965+1G=)
n.2870+1G=
n.800G=
n.667+1G=
c.2157+1G= (n.2157+1G=)
n.2665+1G=
c.1698+1G= (n.1698+1G=)
c.*1623+1G= (n.*1623+1G=)
c.*1944+1G= (n.*1944+1G=)
n.3471+1G=
c.1704+1G= (n.1704+1G=)
c.1947+1G= (n.1947+1G=)
c.*1027+1G= (n.*1027+1G=)
c.1710+1G= (n.1710+1G=)
c.1971+1G= (n.1971+1G=)
c.2070+1G= (n.2070+1G=)
n.4256+1G=
c.177+1G= (n.177+1G=)
n.523+1G=
c.*872+1G= (n.*872+1G=)
c.1953+1G= (n.1953+1G=)
c.2076+1G= (n.2076+1G=)
c.1809+1G= (n.1809+1G=)
c.1803+1G= (n.1803+1G=)
c.1686+1G= (n.1686+1G=)
c.2064+1G= (n.2064+1G=)
c.1797+1G= (n.1797+1G=)
c.1005+1G= (n.1005+1G=)
n.2250+1G=
8g.38414778C>GCA370729949FGFR1c.1977+1G>C (n.1977+1G>C)
c.1965+1G>C (n.1965+1G>C)
n.2870+1G>C
n.800G>C
n.667+1G>C
c.2157+1G>C (n.2157+1G>C)
n.2665+1G>C
c.1698+1G>C (n.1698+1G>C)
c.*1623+1G>C (n.*1623+1G>C)
c.*1944+1G>C (n.*1944+1G>C)
n.3471+1G>C
c.1704+1G>C (n.1704+1G>C)
c.1947+1G>C (n.1947+1G>C)
c.*1027+1G>C (n.*1027+1G>C)
c.1710+1G>C (n.1710+1G>C)
c.1971+1G>C (n.1971+1G>C)
c.2070+1G>C (n.2070+1G>C)
n.4256+1G>C
c.177+1G>C (n.177+1G>C)
n.523+1G>C
c.*872+1G>C (n.*872+1G>C)
c.1953+1G>C (n.1953+1G>C)
c.2076+1G>C (n.2076+1G>C)
c.1809+1G>C (n.1809+1G>C)
c.1803+1G>C (n.1803+1G>C)
c.1686+1G>C (n.1686+1G>C)
c.2064+1G>C (n.2064+1G>C)
c.1797+1G>C (n.1797+1G>C)
c.1005+1G>C (n.1005+1G>C)
n.2250+1G>C
dbSNP
8g.38414778C>TCA10581214FGFR1c.1977+1G>A (n.1977+1G>A)
c.1965+1G>A (n.1965+1G>A)
n.2870+1G>A
n.800G>A
n.667+1G>A
c.2157+1G>A (n.2157+1G>A)
n.2665+1G>A
c.1698+1G>A (n.1698+1G>A)
c.*1623+1G>A (n.*1623+1G>A)
c.*1944+1G>A (n.*1944+1G>A)
n.3471+1G>A
c.1704+1G>A (n.1704+1G>A)
c.1947+1G>A (n.1947+1G>A)
c.*1027+1G>A (n.*1027+1G>A)
c.1710+1G>A (n.1710+1G>A)
c.1971+1G>A (n.1971+1G>A)
c.2070+1G>A (n.2070+1G>A)
n.4256+1G>A
c.177+1G>A (n.177+1G>A)
n.523+1G>A
c.*872+1G>A (n.*872+1G>A)
c.1953+1G>A (n.1953+1G>A)
c.2076+1G>A (n.2076+1G>A)
c.1809+1G>A (n.1809+1G>A)
c.1803+1G>A (n.1803+1G>A)
c.1686+1G>A (n.1686+1G>A)
c.2064+1G>A (n.2064+1G>A)
c.1797+1G>A (n.1797+1G>A)
c.1005+1G>A (n.1005+1G>A)
n.2250+1G>A
ClinVar dbSNP
8g.38414779G>ACA460395351FGFR1c.1977C>T (p.Asn659=)
c.1965C>T (p.Asn655=)
n.2870C>T
n.799C>T
n.667C>T
c.2157C>T (p.Asn719=)
n.2665C>T
c.1698C>T (p.Asn566=)
c.*1623C>T (n.*1623C>T)
c.*1944C>T (n.*1944C>T)
n.3471C>T
c.1704C>T (p.Asn568=)
c.1947C>T (p.Asn649=)
c.*1027C>T (n.*1027C>T)
c.1710C>T (p.Asn570=)
c.1971C>T (p.Asn657=)
c.2070C>T (p.Asn690=)
n.4256C>T
n.1499C>T
c.177C>T (p.Asn59=)
n.523C>T
c.*872C>T (n.*872C>T)
c.1953C>T (p.Asn651=)
c.2076C>T (p.Asn692=)
c.1809C>T (p.Asn603=)
c.1803C>T (p.Asn601=)
c.1686C>T (p.Asn562=)
c.2064C>T (p.Asn688=)
c.1797C>T (p.Asn599=)
c.1005C>T (p.Asn335=)
n.2250C>T
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
8g.38414779G>CCA370729955FGFR1c.1977C>G (p.Asn659Lys)
c.1965C>G (p.Asn655Lys)
n.2870C>G
n.799C>G
n.667C>G
c.2157C>G (p.Asn719Lys)
n.2665C>G
c.1698C>G (p.Asn566Lys)
c.*1623C>G (n.*1623C>G)
c.*1944C>G (n.*1944C>G)
n.3471C>G
c.1704C>G (p.Asn568Lys)
c.1947C>G (p.Asn649Lys)
c.*1027C>G (n.*1027C>G)
c.1710C>G (p.Asn570Lys)
c.1971C>G (p.Asn657Lys)
c.2070C>G (p.Asn690Lys)
n.4256C>G
n.1499C>G
c.177C>G (p.Asn59Lys)
n.523C>G
c.*872C>G (n.*872C>G)
c.1953C>G (p.Asn651Lys)
c.2076C>G (p.Asn692Lys)
c.1809C>G (p.Asn603Lys)
c.1803C>G (p.Asn601Lys)
c.1686C>G (p.Asn562Lys)
c.2064C>G (p.Asn688Lys)
c.1797C>G (p.Asn599Lys)
c.1005C>G (p.Asn335Lys)
n.2250C>G
dbSNP
8g.38414779G=CA1777534725FGFR1c.1977C= (p.Asn659=)
c.1965C= (p.Asn655=)
n.2870C=
n.799C=
n.667C=
c.2157C= (p.Asn719=)
n.2665C=
c.1698C= (p.Asn566=)
c.*1623C= (n.*1623C=)
c.*1944C= (n.*1944C=)
n.3471C=
c.1704C= (p.Asn568=)
c.1947C= (p.Asn649=)
c.*1027C= (n.*1027C=)
c.1710C= (p.Asn570=)
c.1971C= (p.Asn657=)
c.2070C= (p.Asn690=)
n.4256C=
n.1499C=
c.177C= (p.Asn59=)
n.523C=
c.*872C= (n.*872C=)
c.1953C= (p.Asn651=)
c.2076C= (p.Asn692=)
c.1809C= (p.Asn603=)
c.1803C= (p.Asn601=)
c.1686C= (p.Asn562=)
c.2064C= (p.Asn688=)
c.1797C= (p.Asn599=)
c.1005C= (p.Asn335=)
n.2250C=
8g.38414779G>TCA370729957FGFR1c.1977C>A (p.Asn659Lys)
c.1965C>A (p.Asn655Lys)
n.2870C>A
n.799C>A
n.667C>A
c.2157C>A (p.Asn719Lys)
n.2665C>A
c.1698C>A (p.Asn566Lys)
c.*1623C>A (n.*1623C>A)
c.*1944C>A (n.*1944C>A)
n.3471C>A
c.1704C>A (p.Asn568Lys)
c.1947C>A (p.Asn649Lys)
c.*1027C>A (n.*1027C>A)
c.1710C>A (p.Asn570Lys)
c.1971C>A (p.Asn657Lys)
c.2070C>A (p.Asn690Lys)
n.4256C>A
n.1499C>A
c.177C>A (p.Asn59Lys)
n.523C>A
c.*872C>A (n.*872C>A)
c.1953C>A (p.Asn651Lys)
c.2076C>A (p.Asn692Lys)
c.1809C>A (p.Asn603Lys)
c.1803C>A (p.Asn601Lys)
c.1686C>A (p.Asn562Lys)
c.2064C>A (p.Asn688Lys)
c.1797C>A (p.Asn599Lys)
c.1005C>A (p.Asn335Lys)
n.2250C>A
8g.38414783_38414786delCA2695209147FGFR1c.1974_1977del (p.Asn659AlafsTer5)
c.1962_1965del (p.Asn655AlafsTer5)
n.2867_2870del
n.796_799del
n.664_667del
c.2154_2157del (p.Asn719AlafsTer5)
n.2662_2665del
c.1695_1698del (p.Asn566AlafsTer5)
c.*1620_*1623del (n.*1620_*1623del)
c.*1941_*1944del (n.*1941_*1944del)
n.3468_3471del
c.1701_1704del (p.Asn568AlafsTer5)
c.1944_1947del (p.Asn649AlafsTer5)
c.*1024_*1027del (n.*1024_*1027del)
c.1707_1710del (p.Asn570AlafsTer5)
c.1968_1971del (p.Asn657AlafsTer5)
c.2067_2070del (p.Asn690AlafsTer5)
n.4253_4256del
n.1496_1499del
c.174_177del (p.Asn59AlafsTer5)
n.520_523del
c.*869_*872del (n.*869_*872del)
c.1950_1953del (p.Asn651AlafsTer5)
c.2073_2076del (p.Asn692AlafsTer5)
c.1806_1809del (p.Asn603AlafsTer5)
c.1800_1803del (p.Asn601AlafsTer5)
c.1683_1686del (p.Asn562AlafsTer5)
c.2061_2064del (p.Asn688AlafsTer5)
c.1794_1797del (p.Asn599AlafsTer5)
c.1002_1005del (p.Asn335AlafsTer5)
n.2247_2250del
8g.38414780T>ACA370729961FGFR1c.1976A>T (p.Asn659Ile)
c.1964A>T (p.Asn655Ile)
n.2869A>T
n.798A>T
n.666A>T
c.2156A>T (p.Asn719Ile)
n.2664A>T
c.1697A>T (p.Asn566Ile)
c.*1622A>T (n.*1622A>T)
c.*1943A>T (n.*1943A>T)
n.3470A>T
c.1703A>T (p.Asn568Ile)
c.1946A>T (p.Asn649Ile)
c.*1026A>T (n.*1026A>T)
c.1709A>T (p.Asn570Ile)
c.1970A>T (p.Asn657Ile)
c.2069A>T (p.Asn690Ile)
n.4255A>T
n.1498A>T
c.176A>T (p.Asn59Ile)
n.522A>T
c.*871A>T (n.*871A>T)
c.1952A>T (p.Asn651Ile)
c.2075A>T (p.Asn692Ile)
c.1808A>T (p.Asn603Ile)
c.1802A>T (p.Asn601Ile)
c.1685A>T (p.Asn562Ile)
c.2063A>T (p.Asn688Ile)
c.1796A>T (p.Asn599Ile)
c.1004A>T (p.Asn335Ile)
n.2249A>T
dbSNP
8g.38414780T>CCA370729964FGFR1c.1976A>G (p.Asn659Ser)
c.1964A>G (p.Asn655Ser)
n.2869A>G
n.798A>G
n.666A>G
c.2156A>G (p.Asn719Ser)
n.2664A>G
c.1697A>G (p.Asn566Ser)
c.*1622A>G (n.*1622A>G)
c.*1943A>G (n.*1943A>G)
n.3470A>G
c.1703A>G (p.Asn568Ser)
c.1946A>G (p.Asn649Ser)
c.*1026A>G (n.*1026A>G)
c.1709A>G (p.Asn570Ser)
c.1970A>G (p.Asn657Ser)
c.2069A>G (p.Asn690Ser)
n.4255A>G
n.1498A>G
c.176A>G (p.Asn59Ser)
n.522A>G
c.*871A>G (n.*871A>G)
c.1952A>G (p.Asn651Ser)
c.2075A>G (p.Asn692Ser)
c.1808A>G (p.Asn603Ser)
c.1802A>G (p.Asn601Ser)
c.1685A>G (p.Asn562Ser)
c.2063A>G (p.Asn688Ser)
c.1796A>G (p.Asn599Ser)
c.1004A>G (p.Asn335Ser)
n.2249A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38414780T>GCA370729966FGFR1c.1976A>C (p.Asn659Thr)
c.1964A>C (p.Asn655Thr)
n.2869A>C
n.798A>C
n.666A>C
c.2156A>C (p.Asn719Thr)
n.2664A>C
c.1697A>C (p.Asn566Thr)
c.*1622A>C (n.*1622A>C)
c.*1943A>C (n.*1943A>C)
n.3470A>C
c.1703A>C (p.Asn568Thr)
c.1946A>C (p.Asn649Thr)
c.*1026A>C (n.*1026A>C)
c.1709A>C (p.Asn570Thr)
c.1970A>C (p.Asn657Thr)
c.2069A>C (p.Asn690Thr)
n.4255A>C
n.1498A>C
c.176A>C (p.Asn59Thr)
n.522A>C
c.*871A>C (n.*871A>C)
c.1952A>C (p.Asn651Thr)
c.2075A>C (p.Asn692Thr)
c.1808A>C (p.Asn603Thr)
c.1802A>C (p.Asn601Thr)
c.1685A>C (p.Asn562Thr)
c.2063A>C (p.Asn688Thr)
c.1796A>C (p.Asn599Thr)
c.1004A>C (p.Asn335Thr)
n.2249A>C
8g.38414780T=CA1777534727FGFR1c.1976A= (p.Asn659=)
c.1964A= (p.Asn655=)
n.2869A=
n.798A=
n.666A=
c.2156A= (p.Asn719=)
n.2664A=
c.1697A= (p.Asn566=)
c.*1622A= (n.*1622A=)
c.*1943A= (n.*1943A=)
n.3470A=
c.1703A= (p.Asn568=)
c.1946A= (p.Asn649=)
c.*1026A= (n.*1026A=)
c.1709A= (p.Asn570=)
c.1970A= (p.Asn657=)
c.2069A= (p.Asn690=)
n.4255A=
n.1498A=
c.176A= (p.Asn59=)
n.522A=
c.*871A= (n.*871A=)
c.1952A= (p.Asn651=)
c.2075A= (p.Asn692=)
c.1808A= (p.Asn603=)
c.1802A= (p.Asn601=)
c.1685A= (p.Asn562=)
c.2063A= (p.Asn688=)
c.1796A= (p.Asn599=)
c.1004A= (p.Asn335=)
n.2249A=
8g.38414781T>ACA370729972FGFR1c.1975A>T (p.Asn659Tyr)
c.1963A>T (p.Asn655Tyr)
n.2868A>T
n.797A>T
n.665A>T
c.2155A>T (p.Asn719Tyr)
n.2663A>T
c.1696A>T (p.Asn566Tyr)
c.*1621A>T (n.*1621A>T)
c.*1942A>T (n.*1942A>T)
n.3469A>T
c.1702A>T (p.Asn568Tyr)
c.1945A>T (p.Asn649Tyr)
c.*1025A>T (n.*1025A>T)
c.1708A>T (p.Asn570Tyr)
c.1969A>T (p.Asn657Tyr)
c.2068A>T (p.Asn690Tyr)
n.4254A>T
n.1497A>T
c.175A>T (p.Asn59Tyr)
n.521A>T
c.*870A>T (n.*870A>T)
c.1951A>T (p.Asn651Tyr)
c.2074A>T (p.Asn692Tyr)
c.1807A>T (p.Asn603Tyr)
c.1801A>T (p.Asn601Tyr)
c.1684A>T (p.Asn562Tyr)
c.2062A>T (p.Asn688Tyr)
c.1795A>T (p.Asn599Tyr)
c.1003A>T (p.Asn335Tyr)
n.2248A>T
8g.38414781T>CCA370729975FGFR1c.1975A>G (p.Asn659Asp)
c.1963A>G (p.Asn655Asp)
n.2868A>G
n.797A>G
n.665A>G
c.2155A>G (p.Asn719Asp)
n.2663A>G
c.1696A>G (p.Asn566Asp)
c.*1621A>G (n.*1621A>G)
c.*1942A>G (n.*1942A>G)
n.3469A>G
c.1702A>G (p.Asn568Asp)
c.1945A>G (p.Asn649Asp)
c.*1025A>G (n.*1025A>G)
c.1708A>G (p.Asn570Asp)
c.1969A>G (p.Asn657Asp)
c.2068A>G (p.Asn690Asp)
n.4254A>G
n.1497A>G
c.175A>G (p.Asn59Asp)
n.521A>G
c.*870A>G (n.*870A>G)
c.1951A>G (p.Asn651Asp)
c.2074A>G (p.Asn692Asp)
c.1807A>G (p.Asn603Asp)
c.1801A>G (p.Asn601Asp)
c.1684A>G (p.Asn562Asp)
c.2062A>G (p.Asn688Asp)
c.1795A>G (p.Asn599Asp)
c.1003A>G (p.Asn335Asp)
n.2248A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38414781T>GCA370729978FGFR1c.1975A>C (p.Asn659His)
c.1963A>C (p.Asn655His)
n.2868A>C
n.797A>C
n.665A>C
c.2155A>C (p.Asn719His)
n.2663A>C
c.1696A>C (p.Asn566His)
c.*1621A>C (n.*1621A>C)
c.*1942A>C (n.*1942A>C)
n.3469A>C
c.1702A>C (p.Asn568His)
c.1945A>C (p.Asn649His)
c.*1025A>C (n.*1025A>C)
c.1708A>C (p.Asn570His)
c.1969A>C (p.Asn657His)
c.2068A>C (p.Asn690His)
n.4254A>C
n.1497A>C
c.175A>C (p.Asn59His)
n.521A>C
c.*870A>C (n.*870A>C)
c.1951A>C (p.Asn651His)
c.2074A>C (p.Asn692His)
c.1807A>C (p.Asn603His)
c.1801A>C (p.Asn601His)
c.1684A>C (p.Asn562His)
c.2062A>C (p.Asn688His)
c.1795A>C (p.Asn599His)
c.1003A>C (p.Asn335His)
n.2248A>C
8g.38414781T=CA1777534729FGFR1c.1975A= (p.Asn659=)
c.1963A= (p.Asn655=)
n.2868A=
n.797A=
n.665A=
c.2155A= (p.Asn719=)
n.2663A=
c.1696A= (p.Asn566=)
c.*1621A= (n.*1621A=)
c.*1942A= (n.*1942A=)
n.3469A=
c.1702A= (p.Asn568=)
c.1945A= (p.Asn649=)
c.*1025A= (n.*1025A=)
c.1708A= (p.Asn570=)
c.1969A= (p.Asn657=)
c.2068A= (p.Asn690=)
n.4254A=
n.1497A=
c.175A= (p.Asn59=)
n.521A=
c.*870A= (n.*870A=)
c.1951A= (p.Asn651=)
c.2074A= (p.Asn692=)
c.1807A= (p.Asn603=)
c.1801A= (p.Asn601=)
c.1684A= (p.Asn562=)
c.2062A= (p.Asn688=)
c.1795A= (p.Asn599=)
c.1003A= (p.Asn335=)
n.2248A=
8g.38414782G>ACA460395799FGFR1c.1974C>T (p.Thr658=)
c.1962C>T (p.Thr654=)
n.2867C>T
n.796C>T
n.664C>T
c.2154C>T (p.Thr718=)
n.2662C>T
c.1695C>T (p.Thr565=)
c.*1620C>T (n.*1620C>T)
c.*1941C>T (n.*1941C>T)
n.3468C>T
c.1701C>T (p.Thr567=)
c.1944C>T (p.Thr648=)
c.*1024C>T (n.*1024C>T)
c.1707C>T (p.Thr569=)
c.1968C>T (p.Thr656=)
c.2067C>T (p.Thr689=)
n.4253C>T
n.1496C>T
c.174C>T (p.Thr58=)
n.520C>T
c.*869C>T (n.*869C>T)
c.1950C>T (p.Thr650=)
c.2073C>T (p.Thr691=)
c.1806C>T (p.Thr602=)
c.1800C>T (p.Thr600=)
c.1683C>T (p.Thr561=)
c.2061C>T (p.Thr687=)
c.1794C>T (p.Thr598=)
c.1002C>T (p.Thr334=)
n.2247C>T
dbSNP
8g.38414782G>CCA460395801FGFR1c.1974C>G (p.Thr658=)
c.1962C>G (p.Thr654=)
n.2867C>G
n.796C>G
n.664C>G
c.2154C>G (p.Thr718=)
n.2662C>G
c.1695C>G (p.Thr565=)
c.*1620C>G (n.*1620C>G)
c.*1941C>G (n.*1941C>G)
n.3468C>G
c.1701C>G (p.Thr567=)
c.1944C>G (p.Thr648=)
c.*1024C>G (n.*1024C>G)
c.1707C>G (p.Thr569=)
c.1968C>G (p.Thr656=)
c.2067C>G (p.Thr689=)
n.4253C>G
n.1496C>G
c.174C>G (p.Thr58=)
n.520C>G
c.*869C>G (n.*869C>G)
c.1950C>G (p.Thr650=)
c.2073C>G (p.Thr691=)
c.1806C>G (p.Thr602=)
c.1800C>G (p.Thr600=)
c.1683C>G (p.Thr561=)
c.2061C>G (p.Thr687=)
c.1794C>G (p.Thr598=)
c.1002C>G (p.Thr334=)
n.2247C>G
8g.38414782G>TCA460395800FGFR1c.1974C>A (p.Thr658=)
c.1962C>A (p.Thr654=)
n.2867C>A
n.796C>A
n.664C>A
c.2154C>A (p.Thr718=)
n.2662C>A
c.1695C>A (p.Thr565=)
c.*1620C>A (n.*1620C>A)
c.*1941C>A (n.*1941C>A)
n.3468C>A
c.1701C>A (p.Thr567=)
c.1944C>A (p.Thr648=)
c.*1024C>A (n.*1024C>A)
c.1707C>A (p.Thr569=)
c.1968C>A (p.Thr656=)
c.2067C>A (p.Thr689=)
n.4253C>A
n.1496C>A
c.174C>A (p.Thr58=)
n.520C>A
c.*869C>A (n.*869C>A)
c.1950C>A (p.Thr650=)
c.2073C>A (p.Thr691=)
c.1806C>A (p.Thr602=)
c.1800C>A (p.Thr600=)
c.1683C>A (p.Thr561=)
c.2061C>A (p.Thr687=)
c.1794C>A (p.Thr598=)
c.1002C>A (p.Thr334=)
n.2247C>A
dbSNP
8g.38414783G>ACA370729986FGFR1c.1973C>T (p.Thr658Ile)
c.1961C>T (p.Thr654Ile)
n.2866C>T
n.795C>T
n.663C>T
c.2153C>T (p.Thr718Ile)
n.2661C>T
c.1694C>T (p.Thr565Ile)
c.*1619C>T (n.*1619C>T)
c.*1940C>T (n.*1940C>T)
n.3467C>T
c.1700C>T (p.Thr567Ile)
c.1943C>T (p.Thr648Ile)
c.*1023C>T (n.*1023C>T)
c.1706C>T (p.Thr569Ile)
c.1967C>T (p.Thr656Ile)
c.2066C>T (p.Thr689Ile)
n.4252C>T
n.1495C>T
c.173C>T (p.Thr58Ile)
n.519C>T
c.*868C>T (n.*868C>T)
c.1949C>T (p.Thr650Ile)
c.2072C>T (p.Thr691Ile)
c.1805C>T (p.Thr602Ile)
c.1799C>T (p.Thr600Ile)
c.1682C>T (p.Thr561Ile)
c.2060C>T (p.Thr687Ile)
c.1793C>T (p.Thr598Ile)
c.1001C>T (p.Thr334Ile)
n.2246C>T
dbSNP
8g.38414783G>CCA370729983FGFR1c.1973C>G (p.Thr658Ser)
c.1961C>G (p.Thr654Ser)
n.2866C>G
n.795C>G
n.663C>G
c.2153C>G (p.Thr718Ser)
n.2661C>G
c.1694C>G (p.Thr565Ser)
c.*1619C>G (n.*1619C>G)
c.*1940C>G (n.*1940C>G)
n.3467C>G
c.1700C>G (p.Thr567Ser)
c.1943C>G (p.Thr648Ser)
c.*1023C>G (n.*1023C>G)
c.1706C>G (p.Thr569Ser)
c.1967C>G (p.Thr656Ser)
c.2066C>G (p.Thr689Ser)
n.4252C>G
n.1495C>G
c.173C>G (p.Thr58Ser)
n.519C>G
c.*868C>G (n.*868C>G)
c.1949C>G (p.Thr650Ser)
c.2072C>G (p.Thr691Ser)
c.1805C>G (p.Thr602Ser)
c.1799C>G (p.Thr600Ser)
c.1682C>G (p.Thr561Ser)
c.2060C>G (p.Thr687Ser)
c.1793C>G (p.Thr598Ser)
c.1001C>G (p.Thr334Ser)
n.2246C>G
dbSNP gnomAD v4
8g.38414783G>TCA370729984FGFR1c.1973C>A (p.Thr658Asn)
c.1961C>A (p.Thr654Asn)
n.2866C>A
n.795C>A
n.663C>A
c.2153C>A (p.Thr718Asn)
n.2661C>A
c.1694C>A (p.Thr565Asn)
c.*1619C>A (n.*1619C>A)
c.*1940C>A (n.*1940C>A)
n.3467C>A
c.1700C>A (p.Thr567Asn)
c.1943C>A (p.Thr648Asn)
c.*1023C>A (n.*1023C>A)
c.1706C>A (p.Thr569Asn)
c.1967C>A (p.Thr656Asn)
c.2066C>A (p.Thr689Asn)
n.4252C>A
n.1495C>A
c.173C>A (p.Thr58Asn)
n.519C>A
c.*868C>A (n.*868C>A)
c.1949C>A (p.Thr650Asn)
c.2072C>A (p.Thr691Asn)
c.1805C>A (p.Thr602Asn)
c.1799C>A (p.Thr600Asn)
c.1682C>A (p.Thr561Asn)
c.2060C>A (p.Thr687Asn)
c.1793C>A (p.Thr598Asn)
c.1001C>A (p.Thr334Asn)
n.2246C>A
8g.38414784T>ACA370729991FGFR1c.1972A>T (p.Thr658Ser)
c.1960A>T (p.Thr654Ser)
n.2865A>T
n.794A>T
n.662A>T
c.2152A>T (p.Thr718Ser)
n.2660A>T
c.1693A>T (p.Thr565Ser)
c.*1618A>T (n.*1618A>T)
c.*1939A>T (n.*1939A>T)
n.3466A>T
c.1699A>T (p.Thr567Ser)
c.1942A>T (p.Thr648Ser)
c.*1022A>T (n.*1022A>T)
c.1705A>T (p.Thr569Ser)
c.1966A>T (p.Thr656Ser)
c.2065A>T (p.Thr689Ser)
n.4251A>T
n.1494A>T
c.172A>T (p.Thr58Ser)
n.518A>T
c.*867A>T (n.*867A>T)
c.1948A>T (p.Thr650Ser)
c.2071A>T (p.Thr691Ser)
c.1804A>T (p.Thr602Ser)
c.1798A>T (p.Thr600Ser)
c.1681A>T (p.Thr561Ser)
c.2059A>T (p.Thr687Ser)
c.1792A>T (p.Thr598Ser)
c.1000A>T (p.Thr334Ser)
n.2245A>T
dbSNP
8g.38414784T>CCA370729993FGFR1c.1972A>G (p.Thr658Ala)
c.1960A>G (p.Thr654Ala)
n.2865A>G
n.794A>G
n.662A>G
c.2152A>G (p.Thr718Ala)
n.2660A>G
c.1693A>G (p.Thr565Ala)
c.*1618A>G (n.*1618A>G)
c.*1939A>G (n.*1939A>G)
n.3466A>G
c.1699A>G (p.Thr567Ala)
c.1942A>G (p.Thr648Ala)
c.*1022A>G (n.*1022A>G)
c.1705A>G (p.Thr569Ala)
c.1966A>G (p.Thr656Ala)
c.2065A>G (p.Thr689Ala)
n.4251A>G
n.1494A>G
c.172A>G (p.Thr58Ala)
n.518A>G
c.*867A>G (n.*867A>G)
c.1948A>G (p.Thr650Ala)
c.2071A>G (p.Thr691Ala)
c.1804A>G (p.Thr602Ala)
c.1798A>G (p.Thr600Ala)
c.1681A>G (p.Thr561Ala)
c.2059A>G (p.Thr687Ala)
c.1792A>G (p.Thr598Ala)
c.1000A>G (p.Thr334Ala)
n.2245A>G
dbSNP
8g.38414784T>GCA370729995FGFR1c.1972A>C (p.Thr658Pro)
c.1960A>C (p.Thr654Pro)
n.2865A>C
n.794A>C
n.662A>C
c.2152A>C (p.Thr718Pro)
n.2660A>C
c.1693A>C (p.Thr565Pro)
c.*1618A>C (n.*1618A>C)
c.*1939A>C (n.*1939A>C)
n.3466A>C
c.1699A>C (p.Thr567Pro)
c.1942A>C (p.Thr648Pro)
c.*1022A>C (n.*1022A>C)
c.1705A>C (p.Thr569Pro)
c.1966A>C (p.Thr656Pro)
c.2065A>C (p.Thr689Pro)
n.4251A>C
n.1494A>C
c.172A>C (p.Thr58Pro)
n.518A>C
c.*867A>C (n.*867A>C)
c.1948A>C (p.Thr650Pro)
c.2071A>C (p.Thr691Pro)
c.1804A>C (p.Thr602Pro)
c.1798A>C (p.Thr600Pro)
c.1681A>C (p.Thr561Pro)
c.2059A>C (p.Thr687Pro)
c.1792A>C (p.Thr598Pro)
c.1000A>C (p.Thr334Pro)
n.2245A>C
dbSNP
8g.38414784_38414786delinsTTGCA1777534730FGFR1c.1970_1972delinsCAA (p.Thr657=)
c.1958_1960delinsCAA (p.Thr653=)
n.2863_2865delinsCAA
n.792_794delinsCAA
n.660_662delinsCAA
c.2150_2152delinsCAA (p.Thr717=)
n.2658_2660delinsCAA
c.1691_1693delinsCAA (p.Thr564=)
c.*1616_*1618delinsCAA (n.*1616_*1618delinsCAA)
c.*1937_*1939delinsCAA (n.*1937_*1939delinsCAA)
n.3464_3466delinsCAA
c.1697_1699delinsCAA (p.Thr566=)
c.1940_1942delinsCAA (p.Thr647=)
c.*1020_*1022delinsCAA (n.*1020_*1022delinsCAA)
c.1703_1705delinsCAA (p.Thr568=)
c.1964_1966delinsCAA (p.Thr655=)
c.2063_2065delinsCAA (p.Thr688=)
n.4249_4251delinsCAA
n.1492_1494delinsCAA
c.170_172delinsCAA (p.Thr57=)
n.516_518delinsCAA
c.*865_*867delinsCAA (n.*865_*867delinsCAA)
c.1946_1948delinsCAA (p.Thr649=)
c.2069_2071delinsCAA (p.Thr690=)
c.1802_1804delinsCAA (p.Thr601=)
c.1796_1798delinsCAA (p.Thr599=)
c.1679_1681delinsCAA (p.Thr560=)
c.2057_2059delinsCAA (p.Thr686=)
c.1790_1792delinsCAA (p.Thr597=)
c.998_1000delinsCAA (p.Thr333=)
n.2243_2245delinsCAA
8g.38414785T>ACA460395802FGFR1c.1971A>T (p.Thr657=)
c.1959A>T (p.Thr653=)
n.2864A>T
n.793A>T
n.661A>T
c.2151A>T (p.Thr717=)
n.2659A>T
c.1692A>T (p.Thr564=)
c.*1617A>T (n.*1617A>T)
c.*1938A>T (n.*1938A>T)
n.3465A>T
c.1698A>T (p.Thr566=)
c.1941A>T (p.Thr647=)
c.*1021A>T (n.*1021A>T)
c.1704A>T (p.Thr568=)
c.1965A>T (p.Thr655=)
c.2064A>T (p.Thr688=)
n.4250A>T
n.1493A>T
c.171A>T (p.Thr57=)
n.517A>T
c.*866A>T (n.*866A>T)
c.1947A>T (p.Thr649=)
c.2070A>T (p.Thr690=)
c.1803A>T (p.Thr601=)
c.1797A>T (p.Thr599=)
c.1680A>T (p.Thr560=)
c.2058A>T (p.Thr686=)
c.1791A>T (p.Thr597=)
c.999A>T (p.Thr333=)
n.2244A>T
dbSNP
8g.38414785T>CCA460395803FGFR1c.1971A>G (p.Thr657=)
c.1959A>G (p.Thr653=)
n.2864A>G
n.793A>G
n.661A>G
c.2151A>G (p.Thr717=)
n.2659A>G
c.1692A>G (p.Thr564=)
c.*1617A>G (n.*1617A>G)
c.*1938A>G (n.*1938A>G)
n.3465A>G
c.1698A>G (p.Thr566=)
c.1941A>G (p.Thr647=)
c.*1021A>G (n.*1021A>G)
c.1704A>G (p.Thr568=)
c.1965A>G (p.Thr655=)
c.2064A>G (p.Thr688=)
n.4250A>G
n.1493A>G
c.171A>G (p.Thr57=)
n.517A>G
c.*866A>G (n.*866A>G)
c.1947A>G (p.Thr649=)
c.2070A>G (p.Thr690=)
c.1803A>G (p.Thr601=)
c.1797A>G (p.Thr599=)
c.1680A>G (p.Thr560=)
c.2058A>G (p.Thr686=)
c.1791A>G (p.Thr597=)
c.999A>G (p.Thr333=)
n.2244A>G
8g.38414785T>GCA460395804FGFR1c.1971A>C (p.Thr657=)
c.1959A>C (p.Thr653=)
n.2864A>C
n.793A>C
n.661A>C
c.2151A>C (p.Thr717=)
n.2659A>C
c.1692A>C (p.Thr564=)
c.*1617A>C (n.*1617A>C)
c.*1938A>C (n.*1938A>C)
n.3465A>C
c.1698A>C (p.Thr566=)
c.1941A>C (p.Thr647=)
c.*1021A>C (n.*1021A>C)
c.1704A>C (p.Thr568=)
c.1965A>C (p.Thr655=)
c.2064A>C (p.Thr688=)
n.4250A>C
n.1493A>C
c.171A>C (p.Thr57=)
n.517A>C
c.*866A>C (n.*866A>C)
c.1947A>C (p.Thr649=)
c.2070A>C (p.Thr690=)
c.1803A>C (p.Thr601=)
c.1797A>C (p.Thr599=)
c.1680A>C (p.Thr560=)
c.2058A>C (p.Thr686=)
c.1791A>C (p.Thr597=)
c.999A>C (p.Thr333=)
n.2244A>C
8g.38414786_38414787delCA913184926FGFR1c.1970_1971del (p.Thr657AsnfsTer17)
c.1958_1959del (p.Thr653AsnfsTer17)
n.2863_2864del
n.792_793del
n.660_661del
c.2150_2151del (p.Thr717AsnfsTer17)
n.2658_2659del
c.1691_1692del (p.Thr564AsnfsTer17)
c.*1616_*1617del (n.*1616_*1617del)
c.*1937_*1938del (n.*1937_*1938del)
n.3464_3465del
c.1697_1698del (p.Thr566AsnfsTer17)
c.1940_1941del (p.Thr647AsnfsTer17)
c.*1020_*1021del (n.*1020_*1021del)
c.1703_1704del (p.Thr568AsnfsTer17)
c.1964_1965del (p.Thr655AsnfsTer17)
c.2063_2064del (p.Thr688AsnfsTer17)
n.4249_4250del
n.1492_1493del
c.170_171del (p.Thr57AsnfsTer17)
n.516_517del
c.*865_*866del (n.*865_*866del)
c.1946_1947del (p.Thr649AsnfsTer17)
c.2069_2070del (p.Thr690AsnfsTer17)
c.1802_1803del (p.Thr601AsnfsTer17)
c.1796_1797del (p.Thr599AsnfsTer17)
c.1679_1680del (p.Thr560AsnfsTer17)
c.2057_2058del (p.Thr686AsnfsTer17)
c.1790_1791del (p.Thr597AsnfsTer17)
c.998_999del (p.Thr333AsnfsTer17)
n.2243_2244del
ClinVar dbSNP
8g.38414786G>ACA370729998FGFR1c.1970C>T (p.Thr657Ile)
c.1958C>T (p.Thr653Ile)
n.2863C>T
n.792C>T
n.660C>T
c.2150C>T (p.Thr717Ile)
n.2658C>T
c.1691C>T (p.Thr564Ile)
c.*1616C>T (n.*1616C>T)
c.*1937C>T (n.*1937C>T)
n.3464C>T
c.1697C>T (p.Thr566Ile)
c.1940C>T (p.Thr647Ile)
c.*1020C>T (n.*1020C>T)
c.1703C>T (p.Thr568Ile)
c.1964C>T (p.Thr655Ile)
c.2063C>T (p.Thr688Ile)
n.4249C>T
n.1492C>T
c.170C>T (p.Thr57Ile)
n.516C>T
c.*865C>T (n.*865C>T)
c.1946C>T (p.Thr649Ile)
c.2069C>T (p.Thr690Ile)
c.1802C>T (p.Thr601Ile)
c.1796C>T (p.Thr599Ile)
c.1679C>T (p.Thr560Ile)
c.2057C>T (p.Thr686Ile)
c.1790C>T (p.Thr597Ile)
c.998C>T (p.Thr333Ile)
n.2243C>T
dbSNP
8g.38414786G>CCA370729999FGFR1c.1970C>G (p.Thr657Arg)
c.1958C>G (p.Thr653Arg)
n.2863C>G
n.792C>G
n.660C>G
c.2150C>G (p.Thr717Arg)
n.2658C>G
c.1691C>G (p.Thr564Arg)
c.*1616C>G (n.*1616C>G)
c.*1937C>G (n.*1937C>G)
n.3464C>G
c.1697C>G (p.Thr566Arg)
c.1940C>G (p.Thr647Arg)
c.*1020C>G (n.*1020C>G)
c.1703C>G (p.Thr568Arg)
c.1964C>G (p.Thr655Arg)
c.2063C>G (p.Thr688Arg)
n.4249C>G
n.1492C>G
c.170C>G (p.Thr57Arg)
n.516C>G
c.*865C>G (n.*865C>G)
c.1946C>G (p.Thr649Arg)
c.2069C>G (p.Thr690Arg)
c.1802C>G (p.Thr601Arg)
c.1796C>G (p.Thr599Arg)
c.1679C>G (p.Thr560Arg)
c.2057C>G (p.Thr686Arg)
c.1790C>G (p.Thr597Arg)
c.998C>G (p.Thr333Arg)
n.2243C>G
dbSNP
8g.38414786G>TCA370730003FGFR1c.1970C>A (p.Thr657Lys)
c.1958C>A (p.Thr653Lys)
n.2863C>A
n.792C>A
n.660C>A
c.2150C>A (p.Thr717Lys)
n.2658C>A
c.1691C>A (p.Thr564Lys)
c.*1616C>A (n.*1616C>A)
c.*1937C>A (n.*1937C>A)
n.3464C>A
c.1697C>A (p.Thr566Lys)
c.1940C>A (p.Thr647Lys)
c.*1020C>A (n.*1020C>A)
c.1703C>A (p.Thr568Lys)
c.1964C>A (p.Thr655Lys)
c.2063C>A (p.Thr688Lys)
n.4249C>A
n.1492C>A
c.170C>A (p.Thr57Lys)
n.516C>A
c.*865C>A (n.*865C>A)
c.1946C>A (p.Thr649Lys)
c.2069C>A (p.Thr690Lys)
c.1802C>A (p.Thr601Lys)
c.1796C>A (p.Thr599Lys)
c.1679C>A (p.Thr560Lys)
c.2057C>A (p.Thr686Lys)
c.1790C>A (p.Thr597Lys)
c.998C>A (p.Thr333Lys)
n.2243C>A
dbSNP
8g.38414787T>ACA370730007FGFR1c.1969A>T (p.Thr657Ser)
c.1957A>T (p.Thr653Ser)
n.2862A>T
n.791A>T
n.659A>T
c.2149A>T (p.Thr717Ser)
n.2657A>T
c.1690A>T (p.Thr564Ser)
c.*1615A>T (n.*1615A>T)
c.*1936A>T (n.*1936A>T)
n.3463A>T
c.1696A>T (p.Thr566Ser)
c.1939A>T (p.Thr647Ser)
c.*1019A>T (n.*1019A>T)
c.1702A>T (p.Thr568Ser)
c.1963A>T (p.Thr655Ser)
c.2062A>T (p.Thr688Ser)
n.4248A>T
n.1491A>T
c.169A>T (p.Thr57Ser)
n.515A>T
c.*864A>T (n.*864A>T)
c.1945A>T (p.Thr649Ser)
c.2068A>T (p.Thr690Ser)
c.1801A>T (p.Thr601Ser)
c.1795A>T (p.Thr599Ser)
c.1678A>T (p.Thr560Ser)
c.2056A>T (p.Thr686Ser)
c.1789A>T (p.Thr597Ser)
c.997A>T (p.Thr333Ser)
n.2242A>T
dbSNP
8g.38414787T>CCA370730010FGFR1c.1969A>G (p.Thr657Ala)
c.1957A>G (p.Thr653Ala)
n.2862A>G
n.791A>G
n.659A>G
c.2149A>G (p.Thr717Ala)
n.2657A>G
c.1690A>G (p.Thr564Ala)
c.*1615A>G (n.*1615A>G)
c.*1936A>G (n.*1936A>G)
n.3463A>G
c.1696A>G (p.Thr566Ala)
c.1939A>G (p.Thr647Ala)
c.*1019A>G (n.*1019A>G)
c.1702A>G (p.Thr568Ala)
c.1963A>G (p.Thr655Ala)
c.2062A>G (p.Thr688Ala)
n.4248A>G
n.1491A>G
c.169A>G (p.Thr57Ala)
n.515A>G
c.*864A>G (n.*864A>G)
c.1945A>G (p.Thr649Ala)
c.2068A>G (p.Thr690Ala)
c.1801A>G (p.Thr601Ala)
c.1795A>G (p.Thr599Ala)
c.1678A>G (p.Thr560Ala)
c.2056A>G (p.Thr686Ala)
c.1789A>G (p.Thr597Ala)
c.997A>G (p.Thr333Ala)
n.2242A>G
gnomAD v4
8g.38414787T>GCA370730012FGFR1c.1969A>C (p.Thr657Pro)
c.1957A>C (p.Thr653Pro)
n.2862A>C
n.791A>C
n.659A>C
c.2149A>C (p.Thr717Pro)
n.2657A>C
c.1690A>C (p.Thr564Pro)
c.*1615A>C (n.*1615A>C)
c.*1936A>C (n.*1936A>C)
n.3463A>C
c.1696A>C (p.Thr566Pro)
c.1939A>C (p.Thr647Pro)
c.*1019A>C (n.*1019A>C)
c.1702A>C (p.Thr568Pro)
c.1963A>C (p.Thr655Pro)
c.2062A>C (p.Thr688Pro)
n.4248A>C
n.1491A>C
c.169A>C (p.Thr57Pro)
n.515A>C
c.*864A>C (n.*864A>C)
c.1945A>C (p.Thr649Pro)
c.2068A>C (p.Thr690Pro)
c.1801A>C (p.Thr601Pro)
c.1795A>C (p.Thr599Pro)
c.1678A>C (p.Thr560Pro)
c.2056A>C (p.Thr686Pro)
c.1789A>C (p.Thr597Pro)
c.997A>C (p.Thr333Pro)
n.2242A>C
8g.38414787dupCA2580078242FGFR1c.1969dup (p.Thr657AsnfsTer18)
c.1957dup (p.Thr653AsnfsTer18)
n.2862dup
n.791dup
n.659dup
c.2149dup (p.Thr717AsnfsTer18)
n.2657dup
c.1690dup (p.Thr564AsnfsTer18)
c.*1615dup (n.*1615dup)
c.*1936dup (n.*1936dup)
n.3463dup
c.1696dup (p.Thr566AsnfsTer18)
c.1939dup (p.Thr647AsnfsTer18)
c.*1019dup (n.*1019dup)
c.1702dup (p.Thr568AsnfsTer18)
c.1963dup (p.Thr655AsnfsTer18)
c.2062dup (p.Thr688AsnfsTer18)
n.4248dup
n.1491dup
c.169dup (p.Thr57AsnfsTer18)
n.515dup
c.*864dup (n.*864dup)
c.1945dup (p.Thr649AsnfsTer18)
c.2068dup (p.Thr690AsnfsTer18)
c.1801dup (p.Thr601AsnfsTer18)
c.1795dup (p.Thr599AsnfsTer18)
c.1678dup (p.Thr560AsnfsTer18)
c.2056dup (p.Thr686AsnfsTer18)
c.1789dup (p.Thr597AsnfsTer18)
c.997dup (p.Thr333AsnfsTer18)
n.2242dup
ClinVar
8g.38414788C>ACA370730017FGFR1c.1968G>T (p.Lys656Asn)
c.1956G>T (p.Lys652Asn)
n.2861G>T
n.790G>T
n.658G>T
c.2148G>T (p.Lys716Asn)
n.2656G>T
c.1689G>T (p.Lys563Asn)
c.*1614G>T (n.*1614G>T)
c.*1935G>T (n.*1935G>T)
n.3462G>T
c.1695G>T (p.Lys565Asn)
c.1938G>T (p.Lys646Asn)
c.*1018G>T (n.*1018G>T)
c.1701G>T (p.Lys567Asn)
c.1962G>T (p.Lys654Asn)
c.2061G>T (p.Lys687Asn)
n.4247G>T
n.1490G>T
c.168G>T (p.Lys56Asn)
n.514G>T
c.*863G>T (n.*863G>T)
c.1944G>T (p.Lys648Asn)
c.2067G>T (p.Lys689Asn)
c.1800G>T (p.Lys600Asn)
c.1794G>T (p.Lys598Asn)
c.1677G>T (p.Lys559Asn)
c.2055G>T (p.Lys685Asn)
c.1788G>T (p.Lys596Asn)
c.996G>T (p.Lys332Asn)
n.2241G>T
8g.38414788C=CA1777534734FGFR1c.1968G= (p.Lys656=)
c.1956G= (p.Lys652=)
n.2861G=
n.790G=
n.658G=
c.2148G= (p.Lys716=)
n.2656G=
c.1689G= (p.Lys563=)
c.*1614G= (n.*1614G=)
c.*1935G= (n.*1935G=)
n.3462G=
c.1695G= (p.Lys565=)
c.1938G= (p.Lys646=)
c.*1018G= (n.*1018G=)
c.1701G= (p.Lys567=)
c.1962G= (p.Lys654=)
c.2061G= (p.Lys687=)
n.4247G=
n.1490G=
c.168G= (p.Lys56=)
n.514G=
c.*863G= (n.*863G=)
c.1944G= (p.Lys648=)
c.2067G= (p.Lys689=)
c.1800G= (p.Lys600=)
c.1794G= (p.Lys598=)
c.1677G= (p.Lys559=)
c.2055G= (p.Lys685=)
c.1788G= (p.Lys596=)
c.996G= (p.Lys332=)
n.2241G=
8g.38414788C>GCA16602863FGFR1c.1968G>C (p.Lys656Asn)
c.1956G>C (p.Lys652Asn)
n.2861G>C
n.790G>C
n.658G>C
c.2148G>C (p.Lys716Asn)
n.2656G>C
c.1689G>C (p.Lys563Asn)
c.*1614G>C (n.*1614G>C)
c.*1935G>C (n.*1935G>C)
n.3462G>C
c.1695G>C (p.Lys565Asn)
c.1938G>C (p.Lys646Asn)
c.*1018G>C (n.*1018G>C)
c.1701G>C (p.Lys567Asn)
c.1962G>C (p.Lys654Asn)
c.2061G>C (p.Lys687Asn)
n.4247G>C
n.1490G>C
c.168G>C (p.Lys56Asn)
n.514G>C
c.*863G>C (n.*863G>C)
c.1944G>C (p.Lys648Asn)
c.2067G>C (p.Lys689Asn)
c.1800G>C (p.Lys600Asn)
c.1794G>C (p.Lys598Asn)
c.1677G>C (p.Lys559Asn)
c.2055G>C (p.Lys685Asn)
c.1788G>C (p.Lys596Asn)
c.996G>C (p.Lys332Asn)
n.2241G>C
ClinVar dbSNP
8g.38414788C>TCA460395805FGFR1c.1968G>A (p.Lys656=)
c.1956G>A (p.Lys652=)
n.2861G>A
n.790G>A
n.658G>A
c.2148G>A (p.Lys716=)
n.2656G>A
c.1689G>A (p.Lys563=)
c.*1614G>A (n.*1614G>A)
c.*1935G>A (n.*1935G>A)
n.3462G>A
c.1695G>A (p.Lys565=)
c.1938G>A (p.Lys646=)
c.*1018G>A (n.*1018G>A)
c.1701G>A (p.Lys567=)
c.1962G>A (p.Lys654=)
c.2061G>A (p.Lys687=)
n.4247G>A
n.1490G>A
c.168G>A (p.Lys56=)
n.514G>A
c.*863G>A (n.*863G>A)
c.1944G>A (p.Lys648=)
c.2067G>A (p.Lys689=)
c.1800G>A (p.Lys600=)
c.1794G>A (p.Lys598=)
c.1677G>A (p.Lys559=)
c.2055G>A (p.Lys685=)
c.1788G>A (p.Lys596=)
c.996G>A (p.Lys332=)
n.2241G>A
dbSNP gnomAD v2
8g.38414789T>ACA370730027FGFR1c.1967A>T (p.Lys656Met)
c.1955A>T (p.Lys652Met)
n.2860A>T
n.789A>T
n.657A>T
c.2147A>T (p.Lys716Met)
n.2655A>T
c.1688A>T (p.Lys563Met)
c.*1613A>T (n.*1613A>T)
c.*1934A>T (n.*1934A>T)
n.3461A>T
c.1694A>T (p.Lys565Met)
c.1937A>T (p.Lys646Met)
c.*1017A>T (n.*1017A>T)
c.1700A>T (p.Lys567Met)
c.1961A>T (p.Lys654Met)
c.2060A>T (p.Lys687Met)
n.4246A>T
n.1489A>T
c.167A>T (p.Lys56Met)
n.513A>T
c.*862A>T (n.*862A>T)
c.1943A>T (p.Lys648Met)
c.2066A>T (p.Lys689Met)
c.1799A>T (p.Lys600Met)
c.1793A>T (p.Lys598Met)
c.1676A>T (p.Lys559Met)
c.2054A>T (p.Lys685Met)
c.1787A>T (p.Lys596Met)
c.995A>T (p.Lys332Met)
n.2240A>T
dbSNP COSMIC
8g.38414789T>CCA370730029FGFR1c.1967A>G (p.Lys656Arg)
c.1955A>G (p.Lys652Arg)
n.2860A>G
n.789A>G
n.657A>G
c.2147A>G (p.Lys716Arg)
n.2655A>G
c.1688A>G (p.Lys563Arg)
c.*1613A>G (n.*1613A>G)
c.*1934A>G (n.*1934A>G)
n.3461A>G
c.1694A>G (p.Lys565Arg)
c.1937A>G (p.Lys646Arg)
c.*1017A>G (n.*1017A>G)
c.1700A>G (p.Lys567Arg)
c.1961A>G (p.Lys654Arg)
c.2060A>G (p.Lys687Arg)
n.4246A>G
n.1489A>G
c.167A>G (p.Lys56Arg)
n.513A>G
c.*862A>G (n.*862A>G)
c.1943A>G (p.Lys648Arg)
c.2066A>G (p.Lys689Arg)
c.1799A>G (p.Lys600Arg)
c.1793A>G (p.Lys598Arg)
c.1676A>G (p.Lys559Arg)
c.2054A>G (p.Lys685Arg)
c.1787A>G (p.Lys596Arg)
c.995A>G (p.Lys332Arg)
n.2240A>G
gnomAD v4
8g.38414789T>GCA370730025FGFR1c.1967A>C (p.Lys656Thr)
c.1955A>C (p.Lys652Thr)
n.2860A>C
n.789A>C
n.657A>C
c.2147A>C (p.Lys716Thr)
n.2655A>C
c.1688A>C (p.Lys563Thr)
c.*1613A>C (n.*1613A>C)
c.*1934A>C (n.*1934A>C)
n.3461A>C
c.1694A>C (p.Lys565Thr)
c.1937A>C (p.Lys646Thr)
c.*1017A>C (n.*1017A>C)
c.1700A>C (p.Lys567Thr)
c.1961A>C (p.Lys654Thr)
c.2060A>C (p.Lys687Thr)
n.4246A>C
n.1489A>C
c.167A>C (p.Lys56Thr)
n.513A>C
c.*862A>C (n.*862A>C)
c.1943A>C (p.Lys648Thr)
c.2066A>C (p.Lys689Thr)
c.1799A>C (p.Lys600Thr)
c.1793A>C (p.Lys598Thr)
c.1676A>C (p.Lys559Thr)
c.2054A>C (p.Lys685Thr)
c.1787A>C (p.Lys596Thr)
c.995A>C (p.Lys332Thr)
n.2240A>C
8g.38414793delCA2558591289FGFR1c.1967del (p.Lys656ArgfsTer9)
c.1955del (p.Lys652ArgfsTer9)
n.2860del
n.789del
n.657del
c.2147del (p.Lys716ArgfsTer9)
n.2655del
c.1688del (p.Lys563ArgfsTer9)
c.*1613del (n.*1613del)
c.*1934del (n.*1934del)
n.3461del
c.1694del (p.Lys565ArgfsTer9)
c.1937del (p.Lys646ArgfsTer9)
c.*1017del (n.*1017del)
c.1700del (p.Lys567ArgfsTer9)
c.1961del (p.Lys654ArgfsTer9)
c.2060del (p.Lys687ArgfsTer9)
n.4246del
n.1489del
c.167del (p.Lys56ArgfsTer9)
n.513del
c.*862del (n.*862del)
c.1943del (p.Lys648ArgfsTer9)
c.2066del (p.Lys689ArgfsTer9)
c.1799del (p.Lys600ArgfsTer9)
c.1793del (p.Lys598ArgfsTer9)
c.1676del (p.Lys559ArgfsTer9)
c.2054del (p.Lys685ArgfsTer9)
c.1787del (p.Lys596ArgfsTer9)
c.995del (p.Lys332ArgfsTer9)
n.2240del
8g.38414790T>ACA370730033FGFR1c.1966A>T (p.Lys656Ter)
c.1954A>T (p.Lys652Ter)
n.2859A>T
n.788A>T
n.656A>T
c.2146A>T (p.Lys716Ter)
n.2654A>T
c.1687A>T (p.Lys563Ter)
c.*1612A>T (n.*1612A>T)
c.*1933A>T (n.*1933A>T)
n.3460A>T
c.1693A>T (p.Lys565Ter)
c.1936A>T (p.Lys646Ter)
c.*1016A>T (n.*1016A>T)
c.1699A>T (p.Lys567Ter)
c.1960A>T (p.Lys654Ter)
c.2059A>T (p.Lys687Ter)
n.4245A>T
n.1488A>T
c.166A>T (p.Lys56Ter)
n.512A>T
c.*861A>T (n.*861A>T)
c.1942A>T (p.Lys648Ter)
c.2065A>T (p.Lys689Ter)
c.1798A>T (p.Lys600Ter)
c.1792A>T (p.Lys598Ter)
c.1675A>T (p.Lys559Ter)
c.2053A>T (p.Lys685Ter)
c.1786A>T (p.Lys596Ter)
c.994A>T (p.Lys332Ter)
n.2239A>T
COSMIC COSMIC COSMIC COSMIC COSMIC
8g.38414790T>CCA358862FGFR1c.1966A>G (p.Lys656Glu)
c.1954A>G (p.Lys652Glu)
n.2859A>G
n.788A>G
n.656A>G
c.2146A>G (p.Lys716Glu)
n.2654A>G
c.1687A>G (p.Lys563Glu)
c.*1612A>G (n.*1612A>G)
c.*1933A>G (n.*1933A>G)
n.3460A>G
c.1693A>G (p.Lys565Glu)
c.1936A>G (p.Lys646Glu)
c.*1016A>G (n.*1016A>G)
c.1699A>G (p.Lys567Glu)
c.1960A>G (p.Lys654Glu)
c.2059A>G (p.Lys687Glu)
n.4245A>G
n.1488A>G
c.166A>G (p.Lys56Glu)
n.512A>G
c.*861A>G (n.*861A>G)
c.1942A>G (p.Lys648Glu)
c.2065A>G (p.Lys689Glu)
c.1798A>G (p.Lys600Glu)
c.1792A>G (p.Lys598Glu)
c.1675A>G (p.Lys559Glu)
c.2053A>G (p.Lys685Glu)
c.1786A>G (p.Lys596Glu)
c.994A>G (p.Lys332Glu)
n.2239A>G
ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC
8g.38414790T>GCA370730039FGFR1c.1966A>C (p.Lys656Gln)
c.1954A>C (p.Lys652Gln)
n.2859A>C
n.788A>C
n.656A>C
c.2146A>C (p.Lys716Gln)
n.2654A>C
c.1687A>C (p.Lys563Gln)
c.*1612A>C (n.*1612A>C)
c.*1933A>C (n.*1933A>C)
n.3460A>C
c.1693A>C (p.Lys565Gln)
c.1936A>C (p.Lys646Gln)
c.*1016A>C (n.*1016A>C)
c.1699A>C (p.Lys567Gln)
c.1960A>C (p.Lys654Gln)
c.2059A>C (p.Lys687Gln)
n.4245A>C
n.1488A>C
c.166A>C (p.Lys56Gln)
n.512A>C
c.*861A>C (n.*861A>C)
c.1942A>C (p.Lys648Gln)
c.2065A>C (p.Lys689Gln)
c.1798A>C (p.Lys600Gln)
c.1792A>C (p.Lys598Gln)
c.1675A>C (p.Lys559Gln)
c.2053A>C (p.Lys685Gln)
c.1786A>C (p.Lys596Gln)
c.994A>C (p.Lys332Gln)
n.2239A>C
8g.38414790T=CA1777534738FGFR1c.1966A= (p.Lys656=)
c.1954A= (p.Lys652=)
n.2859A=
n.788A=
n.656A=
c.2146A= (p.Lys716=)
n.2654A=
c.1687A= (p.Lys563=)
c.*1612A= (n.*1612A=)
c.*1933A= (n.*1933A=)
n.3460A=
c.1693A= (p.Lys565=)
c.1936A= (p.Lys646=)
c.*1016A= (n.*1016A=)
c.1699A= (p.Lys567=)
c.1960A= (p.Lys654=)
c.2059A= (p.Lys687=)
n.4245A=
n.1488A=
c.166A= (p.Lys56=)
n.512A=
c.*861A= (n.*861A=)
c.1942A= (p.Lys648=)
c.2065A= (p.Lys689=)
c.1798A= (p.Lys600=)
c.1792A= (p.Lys598=)
c.1675A= (p.Lys559=)
c.2053A= (p.Lys685=)
c.1786A= (p.Lys596=)
c.994A= (p.Lys332=)
n.2239A=
8g.38414791T>ACA370730043FGFR1c.1965A>T (p.Lys655Asn)
c.1953A>T (p.Lys651Asn)
n.2858A>T
n.787A>T
n.655A>T
c.2145A>T (p.Lys715Asn)
n.2653A>T
c.1686A>T (p.Lys562Asn)
c.*1611A>T (n.*1611A>T)
c.*1932A>T (n.*1932A>T)
n.3459A>T
c.1692A>T (p.Lys564Asn)
c.1935A>T (p.Lys645Asn)
c.*1015A>T (n.*1015A>T)
c.1698A>T (p.Lys566Asn)
c.1959A>T (p.Lys653Asn)
c.2058A>T (p.Lys686Asn)
n.4244A>T
n.1487A>T
c.165A>T (p.Lys55Asn)
n.511A>T
c.*860A>T (n.*860A>T)
c.1941A>T (p.Lys647Asn)
c.2064A>T (p.Lys688Asn)
c.1797A>T (p.Lys599Asn)
c.1791A>T (p.Lys597Asn)
c.1674A>T (p.Lys558Asn)
c.2052A>T (p.Lys684Asn)
c.1785A>T (p.Lys595Asn)
c.993A>T (p.Lys331Asn)
n.2238A>T
dbSNP
8g.38414791T>CCA460395806FGFR1c.1965A>G (p.Lys655=)
c.1953A>G (p.Lys651=)
n.2858A>G
n.787A>G
n.655A>G
c.2145A>G (p.Lys715=)
n.2653A>G
c.1686A>G (p.Lys562=)
c.*1611A>G (n.*1611A>G)
c.*1932A>G (n.*1932A>G)
n.3459A>G
c.1692A>G (p.Lys564=)
c.1935A>G (p.Lys645=)
c.*1015A>G (n.*1015A>G)
c.1698A>G (p.Lys566=)
c.1959A>G (p.Lys653=)
c.2058A>G (p.Lys686=)
n.4244A>G
n.1487A>G
c.165A>G (p.Lys55=)
n.511A>G
c.*860A>G (n.*860A>G)
c.1941A>G (p.Lys647=)
c.2064A>G (p.Lys688=)
c.1797A>G (p.Lys599=)
c.1791A>G (p.Lys597=)
c.1674A>G (p.Lys558=)
c.2052A>G (p.Lys684=)
c.1785A>G (p.Lys595=)
c.993A>G (p.Lys331=)
n.2238A>G
gnomAD v4
8g.38414791T>GCA370730044FGFR1c.1965A>C (p.Lys655Asn)
c.1953A>C (p.Lys651Asn)
n.2858A>C
n.787A>C
n.655A>C
c.2145A>C (p.Lys715Asn)
n.2653A>C
c.1686A>C (p.Lys562Asn)
c.*1611A>C (n.*1611A>C)
c.*1932A>C (n.*1932A>C)
n.3459A>C
c.1692A>C (p.Lys564Asn)
c.1935A>C (p.Lys645Asn)
c.*1015A>C (n.*1015A>C)
c.1698A>C (p.Lys566Asn)
c.1959A>C (p.Lys653Asn)
c.2058A>C (p.Lys686Asn)
n.4244A>C
n.1487A>C
c.165A>C (p.Lys55Asn)
n.511A>C
c.*860A>C (n.*860A>C)
c.1941A>C (p.Lys647Asn)
c.2064A>C (p.Lys688Asn)
c.1797A>C (p.Lys599Asn)
c.1791A>C (p.Lys597Asn)
c.1674A>C (p.Lys558Asn)
c.2052A>C (p.Lys684Asn)
c.1785A>C (p.Lys595Asn)
c.993A>C (p.Lys331Asn)
n.2238A>C
8g.38414792T>ACA370730048FGFR1c.1964A>T (p.Lys655Ile)
c.1952A>T (p.Lys651Ile)
n.2857A>T
n.786A>T
n.654A>T
c.2144A>T (p.Lys715Ile)
n.2652A>T
c.1685A>T (p.Lys562Ile)
c.*1610A>T (n.*1610A>T)
c.*1931A>T (n.*1931A>T)
n.3458A>T
c.1691A>T (p.Lys564Ile)
c.1934A>T (p.Lys645Ile)
c.*1014A>T (n.*1014A>T)
c.1697A>T (p.Lys566Ile)
c.1958A>T (p.Lys653Ile)
c.2057A>T (p.Lys686Ile)
n.4243A>T
n.1486A>T
c.164A>T (p.Lys55Ile)
n.510A>T
c.*859A>T (n.*859A>T)
c.1940A>T (p.Lys647Ile)
c.2063A>T (p.Lys688Ile)
c.1796A>T (p.Lys599Ile)
c.1790A>T (p.Lys597Ile)
c.1673A>T (p.Lys558Ile)
c.2051A>T (p.Lys684Ile)
c.1784A>T (p.Lys595Ile)
c.992A>T (p.Lys331Ile)
n.2237A>T
dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC
8g.38414792T>CCA370730051FGFR1c.1964A>G (p.Lys655Arg)
c.1952A>G (p.Lys651Arg)
n.2857A>G
n.786A>G
n.654A>G
c.2144A>G (p.Lys715Arg)
n.2652A>G
c.1685A>G (p.Lys562Arg)
c.*1610A>G (n.*1610A>G)
c.*1931A>G (n.*1931A>G)
n.3458A>G
c.1691A>G (p.Lys564Arg)
c.1934A>G (p.Lys645Arg)
c.*1014A>G (n.*1014A>G)
c.1697A>G (p.Lys566Arg)
c.1958A>G (p.Lys653Arg)
c.2057A>G (p.Lys686Arg)
n.4243A>G
n.1486A>G
c.164A>G (p.Lys55Arg)
n.510A>G
c.*859A>G (n.*859A>G)
c.1940A>G (p.Lys647Arg)
c.2063A>G (p.Lys688Arg)
c.1796A>G (p.Lys599Arg)
c.1790A>G (p.Lys597Arg)
c.1673A>G (p.Lys558Arg)
c.2051A>G (p.Lys684Arg)
c.1784A>G (p.Lys595Arg)
c.992A>G (p.Lys331Arg)
n.2237A>G
8g.38414792T>GCA370730054FGFR1c.1964A>C (p.Lys655Thr)
c.1952A>C (p.Lys651Thr)
n.2857A>C
n.786A>C
n.654A>C
c.2144A>C (p.Lys715Thr)
n.2652A>C
c.1685A>C (p.Lys562Thr)
c.*1610A>C (n.*1610A>C)
c.*1931A>C (n.*1931A>C)
n.3458A>C
c.1691A>C (p.Lys564Thr)
c.1934A>C (p.Lys645Thr)
c.*1014A>C (n.*1014A>C)
c.1697A>C (p.Lys566Thr)
c.1958A>C (p.Lys653Thr)
c.2057A>C (p.Lys686Thr)
n.4243A>C
n.1486A>C
c.164A>C (p.Lys55Thr)
n.510A>C
c.*859A>C (n.*859A>C)
c.1940A>C (p.Lys647Thr)
c.2063A>C (p.Lys688Thr)
c.1796A>C (p.Lys599Thr)
c.1790A>C (p.Lys597Thr)
c.1673A>C (p.Lys558Thr)
c.2051A>C (p.Lys684Thr)
c.1784A>C (p.Lys595Thr)
c.992A>C (p.Lys331Thr)
n.2237A>C
8g.38414793T>ACA370730056FGFR1c.1963A>T (p.Lys655Ter)
c.1951A>T (p.Lys651Ter)
n.2856A>T
n.785A>T
n.653A>T
c.2143A>T (p.Lys715Ter)
n.2651A>T
c.1684A>T (p.Lys562Ter)
c.*1609A>T (n.*1609A>T)
c.*1930A>T (n.*1930A>T)
n.3457A>T
c.1690A>T (p.Lys564Ter)
c.1933A>T (p.Lys645Ter)
c.*1013A>T (n.*1013A>T)
c.1696A>T (p.Lys566Ter)
c.1957A>T (p.Lys653Ter)
c.2056A>T (p.Lys686Ter)
n.4242A>T
n.1485A>T
c.163A>T (p.Lys55Ter)
n.509A>T
c.*858A>T (n.*858A>T)
c.1939A>T (p.Lys647Ter)
c.2062A>T (p.Lys688Ter)
c.1795A>T (p.Lys599Ter)
c.1789A>T (p.Lys597Ter)
c.1672A>T (p.Lys558Ter)
c.2050A>T (p.Lys684Ter)
c.1783A>T (p.Lys595Ter)
c.991A>T (p.Lys331Ter)
n.2236A>T
dbSNP
8g.38414793T>CCA370730060FGFR1c.1963A>G (p.Lys655Glu)
c.1951A>G (p.Lys651Glu)
n.2856A>G
n.785A>G
n.653A>G
c.2143A>G (p.Lys715Glu)
n.2651A>G
c.1684A>G (p.Lys562Glu)
c.*1609A>G (n.*1609A>G)
c.*1930A>G (n.*1930A>G)
n.3457A>G
c.1690A>G (p.Lys564Glu)
c.1933A>G (p.Lys645Glu)
c.*1013A>G (n.*1013A>G)
c.1696A>G (p.Lys566Glu)
c.1957A>G (p.Lys653Glu)
c.2056A>G (p.Lys686Glu)
n.4242A>G
n.1485A>G
c.163A>G (p.Lys55Glu)
n.509A>G
c.*858A>G (n.*858A>G)
c.1939A>G (p.Lys647Glu)
c.2062A>G (p.Lys688Glu)
c.1795A>G (p.Lys599Glu)
c.1789A>G (p.Lys597Glu)
c.1672A>G (p.Lys558Glu)
c.2050A>G (p.Lys684Glu)
c.1783A>G (p.Lys595Glu)
c.991A>G (p.Lys331Glu)
n.2236A>G
gnomAD v4
8g.38414793T>GCA370730063FGFR1c.1963A>C (p.Lys655Gln)
c.1951A>C (p.Lys651Gln)
n.2856A>C
n.785A>C
n.653A>C
c.2143A>C (p.Lys715Gln)
n.2651A>C
c.1684A>C (p.Lys562Gln)
c.*1609A>C (n.*1609A>C)
c.*1930A>C (n.*1930A>C)
n.3457A>C
c.1690A>C (p.Lys564Gln)
c.1933A>C (p.Lys645Gln)
c.*1013A>C (n.*1013A>C)
c.1696A>C (p.Lys566Gln)
c.1957A>C (p.Lys653Gln)
c.2056A>C (p.Lys686Gln)
n.4242A>C
n.1485A>C
c.163A>C (p.Lys55Gln)
n.509A>C
c.*858A>C (n.*858A>C)
c.1939A>C (p.Lys647Gln)
c.2062A>C (p.Lys688Gln)
c.1795A>C (p.Lys599Gln)
c.1789A>C (p.Lys597Gln)
c.1672A>C (p.Lys558Gln)
c.2050A>C (p.Lys684Gln)
c.1783A>C (p.Lys595Gln)
c.991A>C (p.Lys331Gln)
n.2236A>C
8g.38414794A=CA1777534742FGFR1c.1962T= (p.Tyr654=)
c.1950T= (p.Tyr650=)
n.2855T=
n.784T=
n.652T=
c.2142T= (p.Tyr714=)
n.2650T=
c.1683T= (p.Tyr561=)
c.*1608T= (n.*1608T=)
c.*1929T= (n.*1929T=)
n.3456T=
c.1689T= (p.Tyr563=)
c.1932T= (p.Tyr644=)
c.*1012T= (n.*1012T=)
c.1695T= (p.Tyr565=)
c.1956T= (p.Tyr652=)
c.2055T= (p.Tyr685=)
n.4241T=
n.1484T=
c.162T= (p.Tyr54=)
n.508T=
c.*857T= (n.*857T=)
c.1938T= (p.Tyr646=)
c.2061T= (p.Tyr687=)
c.1794T= (p.Tyr598=)
c.1788T= (p.Tyr596=)
c.1671T= (p.Tyr557=)
c.2049T= (p.Tyr683=)
c.1782T= (p.Tyr594=)
c.990T= (p.Tyr330=)
n.2235T=
8g.38414794A>CCA370730066FGFR1c.1962T>G (p.Tyr654Ter)
c.1950T>G (p.Tyr650Ter)
n.2855T>G
n.784T>G
n.652T>G
c.2142T>G (p.Tyr714Ter)
n.2650T>G
c.1683T>G (p.Tyr561Ter)
c.*1608T>G (n.*1608T>G)
c.*1929T>G (n.*1929T>G)
n.3456T>G
c.1689T>G (p.Tyr563Ter)
c.1932T>G (p.Tyr644Ter)
c.*1012T>G (n.*1012T>G)
c.1695T>G (p.Tyr565Ter)
c.1956T>G (p.Tyr652Ter)
c.2055T>G (p.Tyr685Ter)
n.4241T>G
n.1484T>G
c.162T>G (p.Tyr54Ter)
n.508T>G
c.*857T>G (n.*857T>G)
c.1938T>G (p.Tyr646Ter)
c.2061T>G (p.Tyr687Ter)
c.1794T>G (p.Tyr598Ter)
c.1788T>G (p.Tyr596Ter)
c.1671T>G (p.Tyr557Ter)
c.2049T>G (p.Tyr683Ter)
c.1782T>G (p.Tyr594Ter)
c.990T>G (p.Tyr330Ter)
n.2235T>G
8g.38414794A>GCA460395807FGFR1c.1962T>C (p.Tyr654=)
c.1950T>C (p.Tyr650=)
n.2855T>C
n.784T>C
n.652T>C
c.2142T>C (p.Tyr714=)
n.2650T>C
c.1683T>C (p.Tyr561=)
c.*1608T>C (n.*1608T>C)
c.*1929T>C (n.*1929T>C)
n.3456T>C
c.1689T>C (p.Tyr563=)
c.1932T>C (p.Tyr644=)
c.*1012T>C (n.*1012T>C)
c.1695T>C (p.Tyr565=)
c.1956T>C (p.Tyr652=)
c.2055T>C (p.Tyr685=)
n.4241T>C
n.1484T>C
c.162T>C (p.Tyr54=)
n.508T>C
c.*857T>C (n.*857T>C)
c.1938T>C (p.Tyr646=)
c.2061T>C (p.Tyr687=)
c.1794T>C (p.Tyr598=)
c.1788T>C (p.Tyr596=)
c.1671T>C (p.Tyr557=)
c.2049T>C (p.Tyr683=)
c.1782T>C (p.Tyr594=)
c.990T>C (p.Tyr330=)
n.2235T>C
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
8g.38414794A>TCA370730069FGFR1c.1962T>A (p.Tyr654Ter)
c.1950T>A (p.Tyr650Ter)
n.2855T>A
n.784T>A
n.652T>A
c.2142T>A (p.Tyr714Ter)
n.2650T>A
c.1683T>A (p.Tyr561Ter)
c.*1608T>A (n.*1608T>A)
c.*1929T>A (n.*1929T>A)
n.3456T>A
c.1689T>A (p.Tyr563Ter)
c.1932T>A (p.Tyr644Ter)
c.*1012T>A (n.*1012T>A)
c.1695T>A (p.Tyr565Ter)
c.1956T>A (p.Tyr652Ter)
c.2055T>A (p.Tyr685Ter)
n.4241T>A
n.1484T>A
c.162T>A (p.Tyr54Ter)
n.508T>A
c.*857T>A (n.*857T>A)
c.1938T>A (p.Tyr646Ter)
c.2061T>A (p.Tyr687Ter)
c.1794T>A (p.Tyr598Ter)
c.1788T>A (p.Tyr596Ter)
c.1671T>A (p.Tyr557Ter)
c.2049T>A (p.Tyr683Ter)
c.1782T>A (p.Tyr594Ter)
c.990T>A (p.Tyr330Ter)
n.2235T>A
dbSNP COSMIC COSMIC COSMIC COSMIC
8g.38414794dupCA2580614539FGFR1c.1962dup (p.Lys655Ter)
c.1950dup (p.Lys651Ter)
n.2855dup
n.784dup
n.652dup
c.2142dup (p.Lys715Ter)
n.2650dup
c.1683dup (p.Lys562Ter)
c.*1608dup (n.*1608dup)
c.*1929dup (n.*1929dup)
n.3456dup
c.1689dup (p.Lys564Ter)
c.1932dup (p.Lys645Ter)
c.*1012dup (n.*1012dup)
c.1695dup (p.Lys566Ter)
c.1956dup (p.Lys653Ter)
c.2055dup (p.Lys686Ter)
n.4241dup
n.1484dup
c.162dup (p.Lys55Ter)
n.508dup
c.*857dup (n.*857dup)
c.1938dup (p.Lys647Ter)
c.2061dup (p.Lys688Ter)
c.1794dup (p.Lys599Ter)
c.1788dup (p.Lys597Ter)
c.1671dup (p.Lys558Ter)
c.2049dup (p.Lys684Ter)
c.1782dup (p.Lys595Ter)
c.990dup (p.Lys331Ter)
n.2235dup
ClinVar
8g.38414795T>ACA370730077FGFR1c.1961A>T (p.Tyr654Phe)
c.1949A>T (p.Tyr650Phe)
n.2854A>T
n.783A>T
n.651A>T
c.2141A>T (p.Tyr714Phe)
n.2649A>T
c.1682A>T (p.Tyr561Phe)
c.*1607A>T (n.*1607A>T)
c.*1928A>T (n.*1928A>T)
n.3455A>T
c.1688A>T (p.Tyr563Phe)
c.1931A>T (p.Tyr644Phe)
c.*1011A>T (n.*1011A>T)
c.1694A>T (p.Tyr565Phe)
c.1955A>T (p.Tyr652Phe)
c.2054A>T (p.Tyr685Phe)
n.4240A>T
n.1483A>T
c.161A>T (p.Tyr54Phe)
n.507A>T
c.*856A>T (n.*856A>T)
c.1937A>T (p.Tyr646Phe)
c.2060A>T (p.Tyr687Phe)
c.1793A>T (p.Tyr598Phe)
c.1787A>T (p.Tyr596Phe)
c.1670A>T (p.Tyr557Phe)
c.2048A>T (p.Tyr683Phe)
c.1781A>T (p.Tyr594Phe)
c.989A>T (p.Tyr330Phe)
n.2234A>T
8g.38414795T>CCA370730074FGFR1c.1961A>G (p.Tyr654Cys)
c.1949A>G (p.Tyr650Cys)
n.2854A>G
n.783A>G
n.651A>G
c.2141A>G (p.Tyr714Cys)
n.2649A>G
c.1682A>G (p.Tyr561Cys)
c.*1607A>G (n.*1607A>G)
c.*1928A>G (n.*1928A>G)
n.3455A>G
c.1688A>G (p.Tyr563Cys)
c.1931A>G (p.Tyr644Cys)
c.*1011A>G (n.*1011A>G)
c.1694A>G (p.Tyr565Cys)
c.1955A>G (p.Tyr652Cys)
c.2054A>G (p.Tyr685Cys)
n.4240A>G
n.1483A>G
c.161A>G (p.Tyr54Cys)
n.507A>G
c.*856A>G (n.*856A>G)
c.1937A>G (p.Tyr646Cys)
c.2060A>G (p.Tyr687Cys)
c.1793A>G (p.Tyr598Cys)
c.1787A>G (p.Tyr596Cys)
c.1670A>G (p.Tyr557Cys)
c.2048A>G (p.Tyr683Cys)
c.1781A>G (p.Tyr594Cys)
c.989A>G (p.Tyr330Cys)
n.2234A>G
dbSNP
8g.38414795T>GCA370730072FGFR1c.1961A>C (p.Tyr654Ser)
c.1949A>C (p.Tyr650Ser)
n.2854A>C
n.783A>C
n.651A>C
c.2141A>C (p.Tyr714Ser)
n.2649A>C
c.1682A>C (p.Tyr561Ser)
c.*1607A>C (n.*1607A>C)
c.*1928A>C (n.*1928A>C)
n.3455A>C
c.1688A>C (p.Tyr563Ser)
c.1931A>C (p.Tyr644Ser)
c.*1011A>C (n.*1011A>C)
c.1694A>C (p.Tyr565Ser)
c.1955A>C (p.Tyr652Ser)
c.2054A>C (p.Tyr685Ser)
n.4240A>C
n.1483A>C
c.161A>C (p.Tyr54Ser)
n.507A>C
c.*856A>C (n.*856A>C)
c.1937A>C (p.Tyr646Ser)
c.2060A>C (p.Tyr687Ser)
c.1793A>C (p.Tyr598Ser)
c.1787A>C (p.Tyr596Ser)
c.1670A>C (p.Tyr557Ser)
c.2048A>C (p.Tyr683Ser)
c.1781A>C (p.Tyr594Ser)
c.989A>C (p.Tyr330Ser)
n.2234A>C
8g.38414795dupCA2695209148FGFR1c.1961dup (p.Tyr654Ter)
c.1949dup (p.Tyr650Ter)
n.2854dup
n.783dup
n.651dup
c.2141dup (p.Tyr714Ter)
n.2649dup
c.1682dup (p.Tyr561Ter)
c.*1607dup (n.*1607dup)
c.*1928dup (n.*1928dup)
n.3455dup
c.1688dup (p.Tyr563Ter)
c.1931dup (p.Tyr644Ter)
c.*1011dup (n.*1011dup)
c.1694dup (p.Tyr565Ter)
c.1955dup (p.Tyr652Ter)
c.2054dup (p.Tyr685Ter)
n.4240dup
n.1483dup
c.161dup (p.Tyr54Ter)
n.507dup
c.*856dup (n.*856dup)
c.1937dup (p.Tyr646Ter)
c.2060dup (p.Tyr687Ter)
c.1793dup (p.Tyr598Ter)
c.1787dup (p.Tyr596Ter)
c.1670dup (p.Tyr557Ter)
c.2048dup (p.Tyr683Ter)
c.1781dup (p.Tyr594Ter)
c.989dup (p.Tyr330Ter)
n.2234dup
8g.38414796A>CCA370730081FGFR1c.1960T>G (p.Tyr654Asp)
c.1948T>G (p.Tyr650Asp)
n.2853T>G
n.782T>G
n.650T>G
c.2140T>G (p.Tyr714Asp)
n.2648T>G
c.1681T>G (p.Tyr561Asp)
c.*1606T>G (n.*1606T>G)
c.*1927T>G (n.*1927T>G)
n.3454T>G
c.1687T>G (p.Tyr563Asp)
c.1930T>G (p.Tyr644Asp)
c.*1010T>G (n.*1010T>G)
c.1693T>G (p.Tyr565Asp)
c.1954T>G (p.Tyr652Asp)
c.2053T>G (p.Tyr685Asp)
n.4239T>G
n.1482T>G
c.160T>G (p.Tyr54Asp)
n.506T>G
c.*855T>G (n.*855T>G)
c.1936T>G (p.Tyr646Asp)
c.2059T>G (p.Tyr687Asp)
c.1792T>G (p.Tyr598Asp)
c.1786T>G (p.Tyr596Asp)
c.1669T>G (p.Tyr557Asp)
c.2047T>G (p.Tyr683Asp)
c.1780T>G (p.Tyr594Asp)
c.988T>G (p.Tyr330Asp)
n.2233T>G
8g.38414796A>GCA370730083FGFR1c.1960T>C (p.Tyr654His)
c.1948T>C (p.Tyr650His)
n.2853T>C
n.782T>C
n.650T>C
c.2140T>C (p.Tyr714His)
n.2648T>C
c.1681T>C (p.Tyr561His)
c.*1606T>C (n.*1606T>C)
c.*1927T>C (n.*1927T>C)
n.3454T>C
c.1687T>C (p.Tyr563His)
c.1930T>C (p.Tyr644His)
c.*1010T>C (n.*1010T>C)
c.1693T>C (p.Tyr565His)
c.1954T>C (p.Tyr652His)
c.2053T>C (p.Tyr685His)
n.4239T>C
n.1482T>C
c.160T>C (p.Tyr54His)
n.506T>C
c.*855T>C (n.*855T>C)
c.1936T>C (p.Tyr646His)
c.2059T>C (p.Tyr687His)
c.1792T>C (p.Tyr598His)
c.1786T>C (p.Tyr596His)
c.1669T>C (p.Tyr557His)
c.2047T>C (p.Tyr683His)
c.1780T>C (p.Tyr594His)
c.988T>C (p.Tyr330His)
n.2233T>C
dbSNP
8g.38414796A>TCA370730085FGFR1c.1960T>A (p.Tyr654Asn)
c.1948T>A (p.Tyr650Asn)
n.2853T>A
n.782T>A
n.650T>A
c.2140T>A (p.Tyr714Asn)
n.2648T>A
c.1681T>A (p.Tyr561Asn)
c.*1606T>A (n.*1606T>A)
c.*1927T>A (n.*1927T>A)
n.3454T>A
c.1687T>A (p.Tyr563Asn)
c.1930T>A (p.Tyr644Asn)
c.*1010T>A (n.*1010T>A)
c.1693T>A (p.Tyr565Asn)
c.1954T>A (p.Tyr652Asn)
c.2053T>A (p.Tyr685Asn)
n.4239T>A
n.1482T>A
c.160T>A (p.Tyr54Asn)
n.506T>A
c.*855T>A (n.*855T>A)
c.1936T>A (p.Tyr646Asn)
c.2059T>A (p.Tyr687Asn)
c.1792T>A (p.Tyr598Asn)
c.1786T>A (p.Tyr596Asn)
c.1669T>A (p.Tyr557Asn)
c.2047T>A (p.Tyr683Asn)
c.1780T>A (p.Tyr594Asn)
c.988T>A (p.Tyr330Asn)
n.2233T>A
dbSNP
8g.38414797G>ACA460395808FGFR1c.1959C>T (p.Tyr653=)
c.1947C>T (p.Tyr649=)
n.2852C>T
n.781C>T
n.649C>T
c.2139C>T (p.Tyr713=)
n.2647C>T
c.1680C>T (p.Tyr560=)
c.*1605C>T (n.*1605C>T)
c.*1926C>T (n.*1926C>T)
n.3453C>T
c.1686C>T (p.Tyr562=)
c.1929C>T (p.Tyr643=)
c.*1009C>T (n.*1009C>T)
c.1692C>T (p.Tyr564=)
c.1953C>T (p.Tyr651=)
c.2052C>T (p.Tyr684=)
n.4238C>T
n.1481C>T
c.159C>T (p.Tyr53=)
n.505C>T
c.*854C>T (n.*854C>T)
c.1935C>T (p.Tyr645=)
c.2058C>T (p.Tyr686=)
c.1791C>T (p.Tyr597=)
c.1785C>T (p.Tyr595=)
c.1668C>T (p.Tyr556=)
c.2046C>T (p.Tyr682=)
c.1779C>T (p.Tyr593=)
c.987C>T (p.Tyr329=)
n.2232C>T
dbSNP gnomAD v4
8g.38414797G>CCA370730090FGFR1c.1959C>G (p.Tyr653Ter)
c.1947C>G (p.Tyr649Ter)
n.2852C>G
n.781C>G
n.649C>G
c.2139C>G (p.Tyr713Ter)
n.2647C>G
c.1680C>G (p.Tyr560Ter)
c.*1605C>G (n.*1605C>G)
c.*1926C>G (n.*1926C>G)
n.3453C>G
c.1686C>G (p.Tyr562Ter)
c.1929C>G (p.Tyr643Ter)
c.*1009C>G (n.*1009C>G)
c.1692C>G (p.Tyr564Ter)
c.1953C>G (p.Tyr651Ter)
c.2052C>G (p.Tyr684Ter)
n.4238C>G
n.1481C>G
c.159C>G (p.Tyr53Ter)
n.505C>G
c.*854C>G (n.*854C>G)
c.1935C>G (p.Tyr645Ter)
c.2058C>G (p.Tyr686Ter)
c.1791C>G (p.Tyr597Ter)
c.1785C>G (p.Tyr595Ter)
c.1668C>G (p.Tyr556Ter)
c.2046C>G (p.Tyr682Ter)
c.1779C>G (p.Tyr593Ter)
c.987C>G (p.Tyr329Ter)
n.2232C>G
dbSNP
8g.38414797G=CA1777534744FGFR1c.1959C= (p.Tyr653=)
c.1947C= (p.Tyr649=)
n.2852C=
n.781C=
n.649C=
c.2139C= (p.Tyr713=)
n.2647C=
c.1680C= (p.Tyr560=)
c.*1605C= (n.*1605C=)
c.*1926C= (n.*1926C=)
n.3453C=
c.1686C= (p.Tyr562=)
c.1929C= (p.Tyr643=)
c.*1009C= (n.*1009C=)
c.1692C= (p.Tyr564=)
c.1953C= (p.Tyr651=)
c.2052C= (p.Tyr684=)
n.4238C=
n.1481C=
c.159C= (p.Tyr53=)
n.505C=
c.*854C= (n.*854C=)
c.1935C= (p.Tyr645=)
c.2058C= (p.Tyr686=)
c.1791C= (p.Tyr597=)
c.1785C= (p.Tyr595=)
c.1668C= (p.Tyr556=)
c.2046C= (p.Tyr682=)
c.1779C= (p.Tyr593=)
c.987C= (p.Tyr329=)
n.2232C=
8g.38414797G>TCA370730092FGFR1c.1959C>A (p.Tyr653Ter)
c.1947C>A (p.Tyr649Ter)
n.2852C>A
n.781C>A
n.649C>A
c.2139C>A (p.Tyr713Ter)
n.2647C>A
c.1680C>A (p.Tyr560Ter)
c.*1605C>A (n.*1605C>A)
c.*1926C>A (n.*1926C>A)
n.3453C>A
c.1686C>A (p.Tyr562Ter)
c.1929C>A (p.Tyr643Ter)
c.*1009C>A (n.*1009C>A)
c.1692C>A (p.Tyr564Ter)
c.1953C>A (p.Tyr651Ter)
c.2052C>A (p.Tyr684Ter)
n.4238C>A
n.1481C>A
c.159C>A (p.Tyr53Ter)
n.505C>A
c.*854C>A (n.*854C>A)
c.1935C>A (p.Tyr645Ter)
c.2058C>A (p.Tyr686Ter)
c.1791C>A (p.Tyr597Ter)
c.1785C>A (p.Tyr595Ter)
c.1668C>A (p.Tyr556Ter)
c.2046C>A (p.Tyr682Ter)
c.1779C>A (p.Tyr593Ter)
c.987C>A (p.Tyr329Ter)
n.2232C>A
dbSNP
8g.38414798T>ACA370730096FGFR1c.1958A>T (p.Tyr653Phe)
c.1946A>T (p.Tyr649Phe)
n.2851A>T
n.780A>T
n.648A>T
c.2138A>T (p.Tyr713Phe)
n.2646A>T
c.1679A>T (p.Tyr560Phe)
c.*1604A>T (n.*1604A>T)
c.*1925A>T (n.*1925A>T)
n.3452A>T
c.1685A>T (p.Tyr562Phe)
c.1928A>T (p.Tyr643Phe)
c.*1008A>T (n.*1008A>T)
c.1691A>T (p.Tyr564Phe)
c.1952A>T (p.Tyr651Phe)
c.2051A>T (p.Tyr684Phe)
n.4237A>T
n.1480A>T
c.158A>T (p.Tyr53Phe)
n.504A>T
c.*853A>T (n.*853A>T)
c.1934A>T (p.Tyr645Phe)
c.2057A>T (p.Tyr686Phe)
c.1790A>T (p.Tyr597Phe)
c.1784A>T (p.Tyr595Phe)
c.1667A>T (p.Tyr556Phe)
c.2045A>T (p.Tyr682Phe)
c.1778A>T (p.Tyr593Phe)
c.986A>T (p.Tyr329Phe)
n.2231A>T
dbSNP
8g.38414798T>CCA4718229FGFR1c.1958A>G (p.Tyr653Cys)
c.1946A>G (p.Tyr649Cys)
n.2851A>G
n.780A>G
n.648A>G
c.2138A>G (p.Tyr713Cys)
n.2646A>G
c.1679A>G (p.Tyr560Cys)
c.*1604A>G (n.*1604A>G)
c.*1925A>G (n.*1925A>G)
n.3452A>G
c.1685A>G (p.Tyr562Cys)
c.1928A>G (p.Tyr643Cys)
c.*1008A>G (n.*1008A>G)
c.1691A>G (p.Tyr564Cys)
c.1952A>G (p.Tyr651Cys)
c.2051A>G (p.Tyr684Cys)
n.4237A>G
n.1480A>G
c.158A>G (p.Tyr53Cys)
n.504A>G
c.*853A>G (n.*853A>G)
c.1934A>G (p.Tyr645Cys)
c.2057A>G (p.Tyr686Cys)
c.1790A>G (p.Tyr597Cys)
c.1784A>G (p.Tyr595Cys)
c.1667A>G (p.Tyr556Cys)
c.2045A>G (p.Tyr682Cys)
c.1778A>G (p.Tyr593Cys)
c.986A>G (p.Tyr329Cys)
n.2231A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38414798T>GCA370730101FGFR1c.1958A>C (p.Tyr653Ser)
c.1946A>C (p.Tyr649Ser)
n.2851A>C
n.780A>C
n.648A>C
c.2138A>C (p.Tyr713Ser)
n.2646A>C
c.1679A>C (p.Tyr560Ser)
c.*1604A>C (n.*1604A>C)
c.*1925A>C (n.*1925A>C)
n.3452A>C
c.1685A>C (p.Tyr562Ser)
c.1928A>C (p.Tyr643Ser)
c.*1008A>C (n.*1008A>C)
c.1691A>C (p.Tyr564Ser)
c.1952A>C (p.Tyr651Ser)
c.2051A>C (p.Tyr684Ser)
n.4237A>C
n.1480A>C
c.158A>C (p.Tyr53Ser)
n.504A>C
c.*853A>C (n.*853A>C)
c.1934A>C (p.Tyr645Ser)
c.2057A>C (p.Tyr686Ser)
c.1790A>C (p.Tyr597Ser)
c.1784A>C (p.Tyr595Ser)
c.1667A>C (p.Tyr556Ser)
c.2045A>C (p.Tyr682Ser)
c.1778A>C (p.Tyr593Ser)
c.986A>C (p.Tyr329Ser)
n.2231A>C
8g.38414798T=CA1777534746FGFR1c.1958A= (p.Tyr653=)
c.1946A= (p.Tyr649=)
n.2851A=
n.780A=
n.648A=
c.2138A= (p.Tyr713=)
n.2646A=
c.1679A= (p.Tyr560=)
c.*1604A= (n.*1604A=)
c.*1925A= (n.*1925A=)
n.3452A=
c.1685A= (p.Tyr562=)
c.1928A= (p.Tyr643=)
c.*1008A= (n.*1008A=)
c.1691A= (p.Tyr564=)
c.1952A= (p.Tyr651=)
c.2051A= (p.Tyr684=)
n.4237A=
n.1480A=
c.158A= (p.Tyr53=)
n.504A=
c.*853A= (n.*853A=)
c.1934A= (p.Tyr645=)
c.2057A= (p.Tyr686=)
c.1790A= (p.Tyr597=)
c.1784A= (p.Tyr595=)
c.1667A= (p.Tyr556=)
c.2045A= (p.Tyr682=)
c.1778A= (p.Tyr593=)
c.986A= (p.Tyr329=)
n.2231A=
8g.38414799A>CCA370730106FGFR1c.1957T>G (p.Tyr653Asp)
c.1945T>G (p.Tyr649Asp)
n.2850T>G
n.779T>G
n.647T>G
c.2137T>G (p.Tyr713Asp)
n.2645T>G
c.1678T>G (p.Tyr560Asp)
c.*1603T>G (n.*1603T>G)
c.*1924T>G (n.*1924T>G)
n.3451T>G
c.1684T>G (p.Tyr562Asp)
c.1927T>G (p.Tyr643Asp)
c.*1007T>G (n.*1007T>G)
c.1690T>G (p.Tyr564Asp)
c.1951T>G (p.Tyr651Asp)
c.2050T>G (p.Tyr684Asp)
n.4236T>G
n.1479T>G
c.157T>G (p.Tyr53Asp)
n.503T>G
c.*852T>G (n.*852T>G)
c.1933T>G (p.Tyr645Asp)
c.2056T>G (p.Tyr686Asp)
c.1789T>G (p.Tyr597Asp)
c.1783T>G (p.Tyr595Asp)
c.1666T>G (p.Tyr556Asp)
c.2044T>G (p.Tyr682Asp)
c.1777T>G (p.Tyr593Asp)
c.985T>G (p.Tyr329Asp)
n.2230T>G
8g.38414799A>GCA370730109FGFR1c.1957T>C (p.Tyr653His)
c.1945T>C (p.Tyr649His)
n.2850T>C
n.779T>C
n.647T>C
c.2137T>C (p.Tyr713His)
n.2645T>C
c.1678T>C (p.Tyr560His)
c.*1603T>C (n.*1603T>C)
c.*1924T>C (n.*1924T>C)
n.3451T>C
c.1684T>C (p.Tyr562His)
c.1927T>C (p.Tyr643His)
c.*1007T>C (n.*1007T>C)
c.1690T>C (p.Tyr564His)
c.1951T>C (p.Tyr651His)
c.2050T>C (p.Tyr684His)
n.4236T>C
n.1479T>C
c.157T>C (p.Tyr53His)
n.503T>C
c.*852T>C (n.*852T>C)
c.1933T>C (p.Tyr645His)
c.2056T>C (p.Tyr686His)
c.1789T>C (p.Tyr597His)
c.1783T>C (p.Tyr595His)
c.1666T>C (p.Tyr556His)
c.2044T>C (p.Tyr682His)
c.1777T>C (p.Tyr593His)
c.985T>C (p.Tyr329His)
n.2230T>C
8g.38414799A>TCA370730111FGFR1c.1957T>A (p.Tyr653Asn)
c.1945T>A (p.Tyr649Asn)
n.2850T>A
n.779T>A
n.647T>A
c.2137T>A (p.Tyr713Asn)
n.2645T>A
c.1678T>A (p.Tyr560Asn)
c.*1603T>A (n.*1603T>A)
c.*1924T>A (n.*1924T>A)
n.3451T>A
c.1684T>A (p.Tyr562Asn)
c.1927T>A (p.Tyr643Asn)
c.*1007T>A (n.*1007T>A)
c.1690T>A (p.Tyr564Asn)
c.1951T>A (p.Tyr651Asn)
c.2050T>A (p.Tyr684Asn)
n.4236T>A
n.1479T>A
c.157T>A (p.Tyr53Asn)
n.503T>A
c.*852T>A (n.*852T>A)
c.1933T>A (p.Tyr645Asn)
c.2056T>A (p.Tyr686Asn)
c.1789T>A (p.Tyr597Asn)
c.1783T>A (p.Tyr595Asn)
c.1666T>A (p.Tyr556Asn)
c.2044T>A (p.Tyr682Asn)
c.1777T>A (p.Tyr593Asn)
c.985T>A (p.Tyr329Asn)
n.2230T>A
dbSNP
8g.38414800G>ACA460395809FGFR1c.1956C>T (p.Asp652=)
c.1944C>T (p.Asp648=)
n.2849C>T
n.778C>T
n.646C>T
c.2136C>T (p.Asp712=)
n.2644C>T
c.1677C>T (p.Asp559=)
c.*1602C>T (n.*1602C>T)
c.*1923C>T (n.*1923C>T)
n.3450C>T
c.1683C>T (p.Asp561=)
c.1926C>T (p.Asp642=)
c.*1006C>T (n.*1006C>T)
c.1689C>T (p.Asp563=)
c.1950C>T (p.Asp650=)
c.2049C>T (p.Asp683=)
n.4235C>T
n.1478C>T
c.156C>T (p.Asp52=)
n.502C>T
c.*851C>T (n.*851C>T)
c.1932C>T (p.Asp644=)
c.2055C>T (p.Asp685=)
c.1788C>T (p.Asp596=)
c.1782C>T (p.Asp594=)
c.1665C>T (p.Asp555=)
c.2043C>T (p.Asp681=)
c.1776C>T (p.Asp592=)
c.984C>T (p.Asp328=)
n.2229C>T
dbSNP gnomAD v4
8g.38414800G>CCA175138798FGFR1c.1956C>G (p.Asp652Glu)
c.1944C>G (p.Asp648Glu)
n.2849C>G
n.778C>G
n.646C>G
c.2136C>G (p.Asp712Glu)
n.2644C>G
c.1677C>G (p.Asp559Glu)
c.*1602C>G (n.*1602C>G)
c.*1923C>G (n.*1923C>G)
n.3450C>G
c.1683C>G (p.Asp561Glu)
c.1926C>G (p.Asp642Glu)
c.*1006C>G (n.*1006C>G)
c.1689C>G (p.Asp563Glu)
c.1950C>G (p.Asp650Glu)
c.2049C>G (p.Asp683Glu)
n.4235C>G
n.1478C>G
c.156C>G (p.Asp52Glu)
n.502C>G
c.*851C>G (n.*851C>G)
c.1932C>G (p.Asp644Glu)
c.2055C>G (p.Asp685Glu)
c.1788C>G (p.Asp596Glu)
c.1782C>G (p.Asp594Glu)
c.1665C>G (p.Asp555Glu)
c.2043C>G (p.Asp681Glu)
c.1776C>G (p.Asp592Glu)
c.984C>G (p.Asp328Glu)
n.2229C>G
dbSNP
8g.38414800G=CA1777534748FGFR1c.1956C= (p.Asp652=)
c.1944C= (p.Asp648=)
n.2849C=
n.778C=
n.646C=
c.2136C= (p.Asp712=)
n.2644C=
c.1677C= (p.Asp559=)
c.*1602C= (n.*1602C=)
c.*1923C= (n.*1923C=)
n.3450C=
c.1683C= (p.Asp561=)
c.1926C= (p.Asp642=)
c.*1006C= (n.*1006C=)
c.1689C= (p.Asp563=)
c.1950C= (p.Asp650=)
c.2049C= (p.Asp683=)
n.4235C=
n.1478C=
c.156C= (p.Asp52=)
n.502C=
c.*851C= (n.*851C=)
c.1932C= (p.Asp644=)
c.2055C= (p.Asp685=)
c.1788C= (p.Asp596=)
c.1782C= (p.Asp594=)
c.1665C= (p.Asp555=)
c.2043C= (p.Asp681=)
c.1776C= (p.Asp592=)
c.984C= (p.Asp328=)
n.2229C=
8g.38414800G>TCA370730117FGFR1c.1956C>A (p.Asp652Glu)
c.1944C>A (p.Asp648Glu)
n.2849C>A
n.778C>A
n.646C>A
c.2136C>A (p.Asp712Glu)
n.2644C>A
c.1677C>A (p.Asp559Glu)
c.*1602C>A (n.*1602C>A)
c.*1923C>A (n.*1923C>A)
n.3450C>A
c.1683C>A (p.Asp561Glu)
c.1926C>A (p.Asp642Glu)
c.*1006C>A (n.*1006C>A)
c.1689C>A (p.Asp563Glu)
c.1950C>A (p.Asp650Glu)
c.2049C>A (p.Asp683Glu)
n.4235C>A
n.1478C>A
c.156C>A (p.Asp52Glu)
n.502C>A
c.*851C>A (n.*851C>A)
c.1932C>A (p.Asp644Glu)
c.2055C>A (p.Asp685Glu)
c.1788C>A (p.Asp596Glu)
c.1782C>A (p.Asp594Glu)
c.1665C>A (p.Asp555Glu)
c.2043C>A (p.Asp681Glu)
c.1776C>A (p.Asp592Glu)
c.984C>A (p.Asp328Glu)
n.2229C>A
8g.38414801T>ACA370730123FGFR1c.1955A>T (p.Asp652Val)
c.1943A>T (p.Asp648Val)
n.2848A>T
n.777A>T
n.645A>T
c.2135A>T (p.Asp712Val)
n.2643A>T
c.1676A>T (p.Asp559Val)
c.*1601A>T (n.*1601A>T)
c.*1922A>T (n.*1922A>T)
n.3449A>T
c.1682A>T (p.Asp561Val)
c.1925A>T (p.Asp642Val)
c.*1005A>T (n.*1005A>T)
c.1688A>T (p.Asp563Val)
c.1949A>T (p.Asp650Val)
c.2048A>T (p.Asp683Val)
n.4234A>T
n.1477A>T
c.155A>T (p.Asp52Val)
n.501A>T
c.*850A>T (n.*850A>T)
c.1931A>T (p.Asp644Val)
c.2054A>T (p.Asp685Val)
c.1787A>T (p.Asp596Val)
c.1781A>T (p.Asp594Val)
c.1664A>T (p.Asp555Val)
c.2042A>T (p.Asp681Val)
c.1775A>T (p.Asp592Val)
c.983A>T (p.Asp328Val)
n.2228A>T
dbSNP
8g.38414801T>CCA370730128FGFR1c.1955A>G (p.Asp652Gly)
c.1943A>G (p.Asp648Gly)
n.2848A>G
n.777A>G
n.645A>G
c.2135A>G (p.Asp712Gly)
n.2643A>G
c.1676A>G (p.Asp559Gly)
c.*1601A>G (n.*1601A>G)
c.*1922A>G (n.*1922A>G)
n.3449A>G
c.1682A>G (p.Asp561Gly)
c.1925A>G (p.Asp642Gly)
c.*1005A>G (n.*1005A>G)
c.1688A>G (p.Asp563Gly)
c.1949A>G (p.Asp650Gly)
c.2048A>G (p.Asp683Gly)
n.4234A>G
n.1477A>G
c.155A>G (p.Asp52Gly)
n.501A>G
c.*850A>G (n.*850A>G)
c.1931A>G (p.Asp644Gly)
c.2054A>G (p.Asp685Gly)
c.1787A>G (p.Asp596Gly)
c.1781A>G (p.Asp594Gly)
c.1664A>G (p.Asp555Gly)
c.2042A>G (p.Asp681Gly)
c.1775A>G (p.Asp592Gly)
c.983A>G (p.Asp328Gly)
n.2228A>G
8g.38414801T>GCA370730126FGFR1c.1955A>C (p.Asp652Ala)
c.1943A>C (p.Asp648Ala)
n.2848A>C
n.777A>C
n.645A>C
c.2135A>C (p.Asp712Ala)
n.2643A>C
c.1676A>C (p.Asp559Ala)
c.*1601A>C (n.*1601A>C)
c.*1922A>C (n.*1922A>C)
n.3449A>C
c.1682A>C (p.Asp561Ala)
c.1925A>C (p.Asp642Ala)
c.*1005A>C (n.*1005A>C)
c.1688A>C (p.Asp563Ala)
c.1949A>C (p.Asp650Ala)
c.2048A>C (p.Asp683Ala)
n.4234A>C
n.1477A>C
c.155A>C (p.Asp52Ala)
n.501A>C
c.*850A>C (n.*850A>C)
c.1931A>C (p.Asp644Ala)
c.2054A>C (p.Asp685Ala)
c.1787A>C (p.Asp596Ala)
c.1781A>C (p.Asp594Ala)
c.1664A>C (p.Asp555Ala)
c.2042A>C (p.Asp681Ala)
c.1775A>C (p.Asp592Ala)
c.983A>C (p.Asp328Ala)
n.2228A>C
8g.38414802C>ACA370730133FGFR1c.1954G>T (p.Asp652Tyr)
c.1942G>T (p.Asp648Tyr)
n.2847G>T
n.776G>T
n.644G>T
c.2134G>T (p.Asp712Tyr)
n.2642G>T
c.1675G>T (p.Asp559Tyr)
c.*1600G>T (n.*1600G>T)
c.*1921G>T (n.*1921G>T)
n.3448G>T
c.1681G>T (p.Asp561Tyr)
c.1924G>T (p.Asp642Tyr)
c.*1004G>T (n.*1004G>T)
c.1687G>T (p.Asp563Tyr)
c.1948G>T (p.Asp650Tyr)
c.2047G>T (p.Asp683Tyr)
n.4233G>T
n.1476G>T
c.154G>T (p.Asp52Tyr)
n.500G>T
c.*849G>T (n.*849G>T)
c.1930G>T (p.Asp644Tyr)
c.2053G>T (p.Asp685Tyr)
c.1786G>T (p.Asp596Tyr)
c.1780G>T (p.Asp594Tyr)
c.1663G>T (p.Asp555Tyr)
c.2041G>T (p.Asp681Tyr)
c.1774G>T (p.Asp592Tyr)
c.982G>T (p.Asp328Tyr)
n.2227G>T
dbSNP gnomAD v2 gnomAD v4
8g.38414802C=CA1777534750FGFR1c.1954G= (p.Asp652=)
c.1942G= (p.Asp648=)
n.2847G=
n.776G=
n.644G=
c.2134G= (p.Asp712=)
n.2642G=
c.1675G= (p.Asp559=)
c.*1600G= (n.*1600G=)
c.*1921G= (n.*1921G=)
n.3448G=
c.1681G= (p.Asp561=)
c.1924G= (p.Asp642=)
c.*1004G= (n.*1004G=)
c.1687G= (p.Asp563=)
c.1948G= (p.Asp650=)
c.2047G= (p.Asp683=)
n.4233G=
n.1476G=
c.154G= (p.Asp52=)
n.500G=
c.*849G= (n.*849G=)
c.1930G= (p.Asp644=)
c.2053G= (p.Asp685=)
c.1786G= (p.Asp596=)
c.1780G= (p.Asp594=)
c.1663G= (p.Asp555=)
c.2041G= (p.Asp681=)
c.1774G= (p.Asp592=)
c.982G= (p.Asp328=)
n.2227G=
8g.38414802C>GCA370730137FGFR1c.1954G>C (p.Asp652His)
c.1942G>C (p.Asp648His)
n.2847G>C
n.776G>C
n.644G>C
c.2134G>C (p.Asp712His)
n.2642G>C
c.1675G>C (p.Asp559His)
c.*1600G>C (n.*1600G>C)
c.*1921G>C (n.*1921G>C)
n.3448G>C
c.1681G>C (p.Asp561His)
c.1924G>C (p.Asp642His)
c.*1004G>C (n.*1004G>C)
c.1687G>C (p.Asp563His)
c.1948G>C (p.Asp650His)
c.2047G>C (p.Asp683His)
n.4233G>C
n.1476G>C
c.154G>C (p.Asp52His)
n.500G>C
c.*849G>C (n.*849G>C)
c.1930G>C (p.Asp644His)
c.2053G>C (p.Asp685His)
c.1786G>C (p.Asp596His)
c.1780G>C (p.Asp594His)
c.1663G>C (p.Asp555His)
c.2041G>C (p.Asp681His)
c.1774G>C (p.Asp592His)
c.982G>C (p.Asp328His)
n.2227G>C
dbSNP
8g.38414802C>TCA4718230FGFR1c.1954G>A (p.Asp652Asn)
c.1942G>A (p.Asp648Asn)
n.2847G>A
n.776G>A
n.644G>A
c.2134G>A (p.Asp712Asn)
n.2642G>A
c.1675G>A (p.Asp559Asn)
c.*1600G>A (n.*1600G>A)
c.*1921G>A (n.*1921G>A)
n.3448G>A
c.1681G>A (p.Asp561Asn)
c.1924G>A (p.Asp642Asn)
c.*1004G>A (n.*1004G>A)
c.1687G>A (p.Asp563Asn)
c.1948G>A (p.Asp650Asn)
c.2047G>A (p.Asp683Asn)
n.4233G>A
n.1476G>A
c.154G>A (p.Asp52Asn)
n.500G>A
c.*849G>A (n.*849G>A)
c.1930G>A (p.Asp644Asn)
c.2053G>A (p.Asp685Asn)
c.1786G>A (p.Asp596Asn)
c.1780G>A (p.Asp594Asn)
c.1663G>A (p.Asp555Asn)
c.2041G>A (p.Asp681Asn)
c.1774G>A (p.Asp592Asn)
c.982G>A (p.Asp328Asn)
n.2227G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
8g.38414803G>ACA4718231FGFR1c.1953C>T (p.Ile651=)
c.1941C>T (p.Ile647=)
n.2846C>T
n.775C>T
n.643C>T
c.2133C>T (p.Ile711=)
n.2641C>T
c.1674C>T (p.Ile558=)
c.*1599C>T (n.*1599C>T)
c.*1920C>T (n.*1920C>T)
n.3447C>T
c.1680C>T (p.Ile560=)
c.1923C>T (p.Ile641=)
c.*1003C>T (n.*1003C>T)
c.1686C>T (p.Ile562=)
c.1947C>T (p.Ile649=)
c.2046C>T (p.Ile682=)
n.4232C>T
n.1475C>T
c.153C>T (p.Ile51=)
n.499C>T
c.*848C>T (n.*848C>T)
c.1929C>T (p.Ile643=)
c.2052C>T (p.Ile684=)
c.1785C>T (p.Ile595=)
c.1779C>T (p.Ile593=)
c.1662C>T (p.Ile554=)
c.2040C>T (p.Ile680=)
c.1773C>T (p.Ile591=)
c.981C>T (p.Ile327=)
n.2226C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38414803G>CCA370730144FGFR1c.1953C>G (p.Ile651Met)
c.1941C>G (p.Ile647Met)
n.2846C>G
n.775C>G
n.643C>G
c.2133C>G (p.Ile711Met)
n.2641C>G
c.1674C>G (p.Ile558Met)
c.*1599C>G (n.*1599C>G)
c.*1920C>G (n.*1920C>G)
n.3447C>G
c.1680C>G (p.Ile560Met)
c.1923C>G (p.Ile641Met)
c.*1003C>G (n.*1003C>G)
c.1686C>G (p.Ile562Met)
c.1947C>G (p.Ile649Met)
c.2046C>G (p.Ile682Met)
n.4232C>G
n.1475C>G
c.153C>G (p.Ile51Met)
n.499C>G
c.*848C>G (n.*848C>G)
c.1929C>G (p.Ile643Met)
c.2052C>G (p.Ile684Met)
c.1785C>G (p.Ile595Met)
c.1779C>G (p.Ile593Met)
c.1662C>G (p.Ile554Met)
c.2040C>G (p.Ile680Met)
c.1773C>G (p.Ile591Met)
c.981C>G (p.Ile327Met)
n.2226C>G
dbSNP gnomAD v3 gnomAD v4
8g.38414803G=CA1777534752FGFR1c.1953C= (p.Ile651=)
c.1941C= (p.Ile647=)
n.2846C=
n.775C=
n.643C=
c.2133C= (p.Ile711=)
n.2641C=
c.1674C= (p.Ile558=)
c.*1599C= (n.*1599C=)
c.*1920C= (n.*1920C=)
n.3447C=
c.1680C= (p.Ile560=)
c.1923C= (p.Ile641=)
c.*1003C= (n.*1003C=)
c.1686C= (p.Ile562=)
c.1947C= (p.Ile649=)
c.2046C= (p.Ile682=)
n.4232C=
n.1475C=
c.153C= (p.Ile51=)
n.499C=
c.*848C= (n.*848C=)
c.1929C= (p.Ile643=)
c.2052C= (p.Ile684=)
c.1785C= (p.Ile595=)
c.1779C= (p.Ile593=)
c.1662C= (p.Ile554=)
c.2040C= (p.Ile680=)
c.1773C= (p.Ile591=)
c.981C= (p.Ile327=)
n.2226C=
8g.38414803G>TCA460395810FGFR1c.1953C>A (p.Ile651=)
c.1941C>A (p.Ile647=)
n.2846C>A
n.775C>A
n.643C>A
c.2133C>A (p.Ile711=)
n.2641C>A
c.1674C>A (p.Ile558=)
c.*1599C>A (n.*1599C>A)
c.*1920C>A (n.*1920C>A)
n.3447C>A
c.1680C>A (p.Ile560=)
c.1923C>A (p.Ile641=)
c.*1003C>A (n.*1003C>A)
c.1686C>A (p.Ile562=)
c.1947C>A (p.Ile649=)
c.2046C>A (p.Ile682=)
n.4232C>A
n.1475C>A
c.153C>A (p.Ile51=)
n.499C>A
c.*848C>A (n.*848C>A)
c.1929C>A (p.Ile643=)
c.2052C>A (p.Ile684=)
c.1785C>A (p.Ile595=)
c.1779C>A (p.Ile593=)
c.1662C>A (p.Ile554=)
c.2040C>A (p.Ile680=)
c.1773C>A (p.Ile591=)
c.981C>A (p.Ile327=)
n.2226C>A
dbSNP
8g.38414804A>CCA370730149FGFR1c.1952T>G (p.Ile651Ser)
c.1940T>G (p.Ile647Ser)
n.2845T>G
n.774T>G
n.642T>G
c.2132T>G (p.Ile711Ser)
n.2640T>G
c.1673T>G (p.Ile558Ser)
c.*1598T>G (n.*1598T>G)
c.*1919T>G (n.*1919T>G)
n.3446T>G
c.1679T>G (p.Ile560Ser)
c.1922T>G (p.Ile641Ser)
c.*1002T>G (n.*1002T>G)
c.1685T>G (p.Ile562Ser)
c.1946T>G (p.Ile649Ser)
c.2045T>G (p.Ile682Ser)
n.4231T>G
n.1474T>G
c.152T>G (p.Ile51Ser)
n.498T>G
c.*847T>G (n.*847T>G)
c.1928T>G (p.Ile643Ser)
c.2051T>G (p.Ile684Ser)
c.1784T>G (p.Ile595Ser)
c.1778T>G (p.Ile593Ser)
c.1661T>G (p.Ile554Ser)
c.2039T>G (p.Ile680Ser)
c.1772T>G (p.Ile591Ser)
c.980T>G (p.Ile327Ser)
n.2225T>G
8g.38414804A>GCA370730151FGFR1c.1952T>C (p.Ile651Thr)
c.1940T>C (p.Ile647Thr)
n.2845T>C
n.774T>C
n.642T>C
c.2132T>C (p.Ile711Thr)
n.2640T>C
c.1673T>C (p.Ile558Thr)
c.*1598T>C (n.*1598T>C)
c.*1919T>C (n.*1919T>C)
n.3446T>C
c.1679T>C (p.Ile560Thr)
c.1922T>C (p.Ile641Thr)
c.*1002T>C (n.*1002T>C)
c.1685T>C (p.Ile562Thr)
c.1946T>C (p.Ile649Thr)
c.2045T>C (p.Ile682Thr)
n.4231T>C
n.1474T>C
c.152T>C (p.Ile51Thr)
n.498T>C
c.*847T>C (n.*847T>C)
c.1928T>C (p.Ile643Thr)
c.2051T>C (p.Ile684Thr)
c.1784T>C (p.Ile595Thr)
c.1778T>C (p.Ile593Thr)
c.1661T>C (p.Ile554Thr)
c.2039T>C (p.Ile680Thr)
c.1772T>C (p.Ile591Thr)
c.980T>C (p.Ile327Thr)
n.2225T>C
COSMIC COSMIC COSMIC COSMIC COSMIC
8g.38414804A>TCA370730154FGFR1c.1952T>A (p.Ile651Asn)
c.1940T>A (p.Ile647Asn)
n.2845T>A
n.774T>A
n.642T>A
c.2132T>A (p.Ile711Asn)
n.2640T>A
c.1673T>A (p.Ile558Asn)
c.*1598T>A (n.*1598T>A)
c.*1919T>A (n.*1919T>A)
n.3446T>A
c.1679T>A (p.Ile560Asn)
c.1922T>A (p.Ile641Asn)
c.*1002T>A (n.*1002T>A)
c.1685T>A (p.Ile562Asn)
c.1946T>A (p.Ile649Asn)
c.2045T>A (p.Ile682Asn)
n.4231T>A
n.1474T>A
c.152T>A (p.Ile51Asn)
n.498T>A
c.*847T>A (n.*847T>A)
c.1928T>A (p.Ile643Asn)
c.2051T>A (p.Ile684Asn)
c.1784T>A (p.Ile595Asn)
c.1778T>A (p.Ile593Asn)
c.1661T>A (p.Ile554Asn)
c.2039T>A (p.Ile680Asn)
c.1772T>A (p.Ile591Asn)
c.980T>A (p.Ile327Asn)
n.2225T>A
dbSNP
8g.38414805T>ACA370730157FGFR1c.1951A>T (p.Ile651Phe)
c.1939A>T (p.Ile647Phe)
n.2844A>T
n.773A>T
n.641A>T
c.2131A>T (p.Ile711Phe)
n.2639A>T
c.1672A>T (p.Ile558Phe)
c.*1597A>T (n.*1597A>T)
c.*1918A>T (n.*1918A>T)
n.3445A>T
c.1678A>T (p.Ile560Phe)
c.1921A>T (p.Ile641Phe)
c.*1001A>T (n.*1001A>T)
c.1684A>T (p.Ile562Phe)
c.1945A>T (p.Ile649Phe)
c.2044A>T (p.Ile682Phe)
n.4230A>T
n.1473A>T
c.151A>T (p.Ile51Phe)
n.497A>T
c.*846A>T (n.*846A>T)
c.1927A>T (p.Ile643Phe)
c.2050A>T (p.Ile684Phe)
c.1783A>T (p.Ile595Phe)
c.1777A>T (p.Ile593Phe)
c.1660A>T (p.Ile554Phe)
c.2038A>T (p.Ile680Phe)
c.1771A>T (p.Ile591Phe)
c.979A>T (p.Ile327Phe)
n.2224A>T
gnomAD v4
8g.38414805T>CCA370730160FGFR1c.1951A>G (p.Ile651Val)
c.1939A>G (p.Ile647Val)
n.2844A>G
n.773A>G
n.641A>G
c.2131A>G (p.Ile711Val)
n.2639A>G
c.1672A>G (p.Ile558Val)
c.*1597A>G (n.*1597A>G)
c.*1918A>G (n.*1918A>G)
n.3445A>G
c.1678A>G (p.Ile560Val)
c.1921A>G (p.Ile641Val)
c.*1001A>G (n.*1001A>G)
c.1684A>G (p.Ile562Val)
c.1945A>G (p.Ile649Val)
c.2044A>G (p.Ile682Val)
n.4230A>G
n.1473A>G
c.151A>G (p.Ile51Val)
n.497A>G
c.*846A>G (n.*846A>G)
c.1927A>G (p.Ile643Val)
c.2050A>G (p.Ile684Val)
c.1783A>G (p.Ile595Val)
c.1777A>G (p.Ile593Val)
c.1660A>G (p.Ile554Val)
c.2038A>G (p.Ile680Val)
c.1771A>G (p.Ile591Val)
c.979A>G (p.Ile327Val)
n.2224A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38414805T>GCA370730163FGFR1c.1951A>C (p.Ile651Leu)
c.1939A>C (p.Ile647Leu)
n.2844A>C
n.773A>C
n.641A>C
c.2131A>C (p.Ile711Leu)
n.2639A>C
c.1672A>C (p.Ile558Leu)
c.*1597A>C (n.*1597A>C)
c.*1918A>C (n.*1918A>C)
n.3445A>C
c.1678A>C (p.Ile560Leu)
c.1921A>C (p.Ile641Leu)
c.*1001A>C (n.*1001A>C)
c.1684A>C (p.Ile562Leu)
c.1945A>C (p.Ile649Leu)
c.2044A>C (p.Ile682Leu)
n.4230A>C
n.1473A>C
c.151A>C (p.Ile51Leu)
n.497A>C
c.*846A>C (n.*846A>C)
c.1927A>C (p.Ile643Leu)
c.2050A>C (p.Ile684Leu)
c.1783A>C (p.Ile595Leu)
c.1777A>C (p.Ile593Leu)
c.1660A>C (p.Ile554Leu)
c.2038A>C (p.Ile680Leu)
c.1771A>C (p.Ile591Leu)
c.979A>C (p.Ile327Leu)
n.2224A>C
8g.38414805T=CA1777534754FGFR1c.1951A= (p.Ile651=)
c.1939A= (p.Ile647=)
n.2844A=
n.773A=
n.641A=
c.2131A= (p.Ile711=)
n.2639A=
c.1672A= (p.Ile558=)
c.*1597A= (n.*1597A=)
c.*1918A= (n.*1918A=)
n.3445A=
c.1678A= (p.Ile560=)
c.1921A= (p.Ile641=)
c.*1001A= (n.*1001A=)
c.1684A= (p.Ile562=)
c.1945A= (p.Ile649=)
c.2044A= (p.Ile682=)
n.4230A=
n.1473A=
c.151A= (p.Ile51=)
n.497A=
c.*846A= (n.*846A=)
c.1927A= (p.Ile643=)
c.2050A= (p.Ile684=)
c.1783A= (p.Ile595=)
c.1777A= (p.Ile593=)
c.1660A= (p.Ile554=)
c.2038A= (p.Ile680=)
c.1771A= (p.Ile591=)
c.979A= (p.Ile327=)
n.2224A=
8g.38414806G>ACA460395811FGFR1c.1950C>T (p.His650=)
c.1938C>T (p.His646=)
n.2843C>T
n.772C>T
n.640C>T
c.2130C>T (p.His710=)
n.2638C>T
c.1671C>T (p.His557=)
c.*1596C>T (n.*1596C>T)
c.*1917C>T (n.*1917C>T)
n.3444C>T
c.1677C>T (p.His559=)
c.1920C>T (p.His640=)
c.*1000C>T (n.*1000C>T)
c.1683C>T (p.His561=)
c.1944C>T (p.His648=)
c.2043C>T (p.His681=)
n.4229C>T
n.1472C>T
c.150C>T (p.His50=)
n.496C>T
c.*845C>T (n.*845C>T)
c.1926C>T (p.His642=)
c.2049C>T (p.His683=)
c.1782C>T (p.His594=)
c.1776C>T (p.His592=)
c.1659C>T (p.His553=)
c.2037C>T (p.His679=)
c.1770C>T (p.His590=)
c.978C>T (p.His326=)
n.2223C>T
dbSNP
8g.38414806G>CCA370730166FGFR1c.1950C>G (p.His650Gln)
c.1938C>G (p.His646Gln)
n.2843C>G
n.772C>G
n.640C>G
c.2130C>G (p.His710Gln)
n.2638C>G
c.1671C>G (p.His557Gln)
c.*1596C>G (n.*1596C>G)
c.*1917C>G (n.*1917C>G)
n.3444C>G
c.1677C>G (p.His559Gln)
c.1920C>G (p.His640Gln)
c.*1000C>G (n.*1000C>G)
c.1683C>G (p.His561Gln)
c.1944C>G (p.His648Gln)
c.2043C>G (p.His681Gln)
n.4229C>G
n.1472C>G
c.150C>G (p.His50Gln)
n.496C>G
c.*845C>G (n.*845C>G)
c.1926C>G (p.His642Gln)
c.2049C>G (p.His683Gln)
c.1782C>G (p.His594Gln)
c.1776C>G (p.His592Gln)
c.1659C>G (p.His553Gln)
c.2037C>G (p.His679Gln)
c.1770C>G (p.His590Gln)
c.978C>G (p.His326Gln)
n.2223C>G
dbSNP
8g.38414806G>TCA370730168FGFR1c.1950C>A (p.His650Gln)
c.1938C>A (p.His646Gln)
n.2843C>A
n.772C>A
n.640C>A
c.2130C>A (p.His710Gln)
n.2638C>A
c.1671C>A (p.His557Gln)
c.*1596C>A (n.*1596C>A)
c.*1917C>A (n.*1917C>A)
n.3444C>A
c.1677C>A (p.His559Gln)
c.1920C>A (p.His640Gln)
c.*1000C>A (n.*1000C>A)
c.1683C>A (p.His561Gln)
c.1944C>A (p.His648Gln)
c.2043C>A (p.His681Gln)
n.4229C>A
n.1472C>A
c.150C>A (p.His50Gln)
n.496C>A
c.*845C>A (n.*845C>A)
c.1926C>A (p.His642Gln)
c.2049C>A (p.His683Gln)
c.1782C>A (p.His594Gln)
c.1776C>A (p.His592Gln)
c.1659C>A (p.His553Gln)
c.2037C>A (p.His679Gln)
c.1770C>A (p.His590Gln)
c.978C>A (p.His326Gln)
n.2223C>A
dbSNP
8g.38414807T>ACA370730173FGFR1c.1949A>T (p.His650Leu)
c.1937A>T (p.His646Leu)
n.2842A>T
n.771A>T
n.639A>T
c.2129A>T (p.His710Leu)
n.2637A>T
c.1670A>T (p.His557Leu)
c.*1595A>T (n.*1595A>T)
c.*1916A>T (n.*1916A>T)
n.3443A>T
c.1676A>T (p.His559Leu)
c.1919A>T (p.His640Leu)
c.*999A>T (n.*999A>T)
c.1682A>T (p.His561Leu)
c.1943A>T (p.His648Leu)
c.2042A>T (p.His681Leu)
n.4228A>T
n.1471A>T
c.149A>T (p.His50Leu)
n.495A>T
c.*844A>T (n.*844A>T)
c.1925A>T (p.His642Leu)
c.2048A>T (p.His683Leu)
c.1781A>T (p.His594Leu)
c.1775A>T (p.His592Leu)
c.1658A>T (p.His553Leu)
c.2036A>T (p.His679Leu)
c.1769A>T (p.His590Leu)
c.977A>T (p.His326Leu)
n.2222A>T
dbSNP
8g.38414807T>CCA370730175FGFR1c.1949A>G (p.His650Arg)
c.1937A>G (p.His646Arg)
n.2842A>G
n.771A>G
n.639A>G
c.2129A>G (p.His710Arg)
n.2637A>G
c.1670A>G (p.His557Arg)
c.*1595A>G (n.*1595A>G)
c.*1916A>G (n.*1916A>G)
n.3443A>G
c.1676A>G (p.His559Arg)
c.1919A>G (p.His640Arg)
c.*999A>G (n.*999A>G)
c.1682A>G (p.His561Arg)
c.1943A>G (p.His648Arg)
c.2042A>G (p.His681Arg)
n.4228A>G
n.1471A>G
c.149A>G (p.His50Arg)
n.495A>G
c.*844A>G (n.*844A>G)
c.1925A>G (p.His642Arg)
c.2048A>G (p.His683Arg)
c.1781A>G (p.His594Arg)
c.1775A>G (p.His592Arg)
c.1658A>G (p.His553Arg)
c.2036A>G (p.His679Arg)
c.1769A>G (p.His590Arg)
c.977A>G (p.His326Arg)
n.2222A>G
8g.38414807T>GCA370730177FGFR1c.1949A>C (p.His650Pro)
c.1937A>C (p.His646Pro)
n.2842A>C
n.771A>C
n.639A>C
c.2129A>C (p.His710Pro)
n.2637A>C
c.1670A>C (p.His557Pro)
c.*1595A>C (n.*1595A>C)
c.*1916A>C (n.*1916A>C)
n.3443A>C
c.1676A>C (p.His559Pro)
c.1919A>C (p.His640Pro)
c.*999A>C (n.*999A>C)
c.1682A>C (p.His561Pro)
c.1943A>C (p.His648Pro)
c.2042A>C (p.His681Pro)
n.4228A>C
n.1471A>C
c.149A>C (p.His50Pro)
n.495A>C
c.*844A>C (n.*844A>C)
c.1925A>C (p.His642Pro)
c.2048A>C (p.His683Pro)
c.1781A>C (p.His594Pro)
c.1775A>C (p.His592Pro)
c.1658A>C (p.His553Pro)
c.2036A>C (p.His679Pro)
c.1769A>C (p.His590Pro)
c.977A>C (p.His326Pro)
n.2222A>C
8g.38414807T=CA1777534755FGFR1c.1949A= (p.His650=)
c.1937A= (p.His646=)
n.2842A=
n.771A=
n.639A=
c.2129A= (p.His710=)
n.2637A=
c.1670A= (p.His557=)
c.*1595A= (n.*1595A=)
c.*1916A= (n.*1916A=)
n.3443A=
c.1676A= (p.His559=)
c.1919A= (p.His640=)
c.*999A= (n.*999A=)
c.1682A= (p.His561=)
c.1943A= (p.His648=)
c.2042A= (p.His681=)
n.4228A=
n.1471A=
c.149A= (p.His50=)
n.495A=
c.*844A= (n.*844A=)
c.1925A= (p.His642=)
c.2048A= (p.His683=)
c.1781A= (p.His594=)
c.1775A= (p.His592=)
c.1658A= (p.His553=)
c.2036A= (p.His679=)
c.1769A= (p.His590=)
c.977A= (p.His326=)
n.2222A=
8g.38414808G>ACA370730184FGFR1c.1948C>T (p.His650Tyr)
c.1936C>T (p.His646Tyr)
n.2841C>T
n.770C>T
n.638C>T
c.2128C>T (p.His710Tyr)
n.2636C>T
c.1669C>T (p.His557Tyr)
c.*1594C>T (n.*1594C>T)
c.*1915C>T (n.*1915C>T)
n.3442C>T
c.1675C>T (p.His559Tyr)
c.1918C>T (p.His640Tyr)
c.*998C>T (n.*998C>T)
c.1681C>T (p.His561Tyr)
c.1942C>T (p.His648Tyr)
c.2041C>T (p.His681Tyr)
n.4227C>T
n.1470C>T
c.148C>T (p.His50Tyr)
n.494C>T
c.*843C>T (n.*843C>T)
c.1924C>T (p.His642Tyr)
c.2047C>T (p.His683Tyr)
c.1780C>T (p.His594Tyr)
c.1774C>T (p.His592Tyr)
c.1657C>T (p.His553Tyr)
c.2035C>T (p.His679Tyr)
c.1768C>T (p.His590Tyr)
c.976C>T (p.His326Tyr)
n.2221C>T
dbSNP
8g.38414808G>CCA370730180FGFR1c.1948C>G (p.His650Asp)
c.1936C>G (p.His646Asp)
n.2841C>G
n.770C>G
n.638C>G
c.2128C>G (p.His710Asp)
n.2636C>G
c.1669C>G (p.His557Asp)
c.*1594C>G (n.*1594C>G)
c.*1915C>G (n.*1915C>G)
n.3442C>G
c.1675C>G (p.His559Asp)
c.1918C>G (p.His640Asp)
c.*998C>G (n.*998C>G)
c.1681C>G (p.His561Asp)
c.1942C>G (p.His648Asp)
c.2041C>G (p.His681Asp)
n.4227C>G
n.1470C>G
c.148C>G (p.His50Asp)
n.494C>G
c.*843C>G (n.*843C>G)
c.1924C>G (p.His642Asp)
c.2047C>G (p.His683Asp)
c.1780C>G (p.His594Asp)
c.1774C>G (p.His592Asp)
c.1657C>G (p.His553Asp)
c.2035C>G (p.His679Asp)
c.1768C>G (p.His590Asp)
c.976C>G (p.His326Asp)
n.2221C>G
8g.38414808G>TCA370730182FGFR1c.1948C>A (p.His650Asn)
c.1936C>A (p.His646Asn)
n.2841C>A
n.770C>A
n.638C>A
c.2128C>A (p.His710Asn)
n.2636C>A
c.1669C>A (p.His557Asn)
c.*1594C>A (n.*1594C>A)
c.*1915C>A (n.*1915C>A)
n.3442C>A
c.1675C>A (p.His559Asn)
c.1918C>A (p.His640Asn)
c.*998C>A (n.*998C>A)
c.1681C>A (p.His561Asn)
c.1942C>A (p.His648Asn)
c.2041C>A (p.His681Asn)
n.4227C>A
n.1470C>A
c.148C>A (p.His50Asn)
n.494C>A
c.*843C>A (n.*843C>A)
c.1924C>A (p.His642Asn)
c.2047C>A (p.His683Asn)
c.1780C>A (p.His594Asn)
c.1774C>A (p.His592Asn)
c.1657C>A (p.His553Asn)
c.2035C>A (p.His679Asn)
c.1768C>A (p.His590Asn)
c.976C>A (p.His326Asn)
n.2221C>A
dbSNP
8g.38414809delCA2740094991FGFR1c.1948del (p.His650ThrfsTer15)
c.1936del (p.His646ThrfsTer15)
n.2841del
n.770del
n.638del
c.2128del (p.His710ThrfsTer15)
n.2636del
c.1669del (p.His557ThrfsTer15)
c.*1594del (n.*1594del)
c.*1915del (n.*1915del)
n.3442del
c.1675del (p.His559ThrfsTer15)
c.1918del (p.His640ThrfsTer15)
c.*998del (n.*998del)
c.1681del (p.His561ThrfsTer15)
c.1942del (p.His648ThrfsTer15)
c.2041del (p.His681ThrfsTer15)
n.4227del
n.1470del
c.148del (p.His50ThrfsTer15)
n.494del
c.*843del (n.*843del)
c.1924del (p.His642ThrfsTer15)
c.2047del (p.His683ThrfsTer15)
c.1780del (p.His594ThrfsTer15)
c.1774del (p.His592ThrfsTer15)
c.1657del (p.His553ThrfsTer15)
c.2035del (p.His679ThrfsTer15)
c.1768del (p.His590ThrfsTer15)
c.976del (p.His326ThrfsTer15)
n.2221del
ClinVar
8g.38414809G>ACA460395812FGFR1c.1947C>T (p.His649=)
c.1935C>T (p.His645=)
n.2840C>T
n.769C>T
n.637C>T
c.2127C>T (p.His709=)
n.2635C>T
c.1668C>T (p.His556=)
c.*1593C>T (n.*1593C>T)
c.*1914C>T (n.*1914C>T)
n.3441C>T
c.1674C>T (p.His558=)
c.1917C>T (p.His639=)
c.*997C>T (n.*997C>T)
c.1680C>T (p.His560=)
c.1941C>T (p.His647=)
c.2040C>T (p.His680=)
n.4226C>T
n.1469C>T
c.147C>T (p.His49=)
n.493C>T
c.*842C>T (n.*842C>T)
c.1923C>T (p.His641=)
c.2046C>T (p.His682=)
c.1779C>T (p.His593=)
c.1773C>T (p.His591=)
c.1656C>T (p.His552=)
c.2034C>T (p.His678=)
c.1767C>T (p.His589=)
c.975C>T (p.His325=)
n.2220C>T
8g.38414809G>CCA370730186FGFR1c.1947C>G (p.His649Gln)
c.1935C>G (p.His645Gln)
n.2840C>G
n.769C>G
n.637C>G
c.2127C>G (p.His709Gln)
n.2635C>G
c.1668C>G (p.His556Gln)
c.*1593C>G (n.*1593C>G)
c.*1914C>G (n.*1914C>G)
n.3441C>G
c.1674C>G (p.His558Gln)
c.1917C>G (p.His639Gln)
c.*997C>G (n.*997C>G)
c.1680C>G (p.His560Gln)
c.1941C>G (p.His647Gln)
c.2040C>G (p.His680Gln)
n.4226C>G
n.1469C>G
c.147C>G (p.His49Gln)
n.493C>G
c.*842C>G (n.*842C>G)
c.1923C>G (p.His641Gln)
c.2046C>G (p.His682Gln)
c.1779C>G (p.His593Gln)
c.1773C>G (p.His591Gln)
c.1656C>G (p.His552Gln)
c.2034C>G (p.His678Gln)
c.1767C>G (p.His589Gln)
c.975C>G (p.His325Gln)
n.2220C>G
8g.38414809G>TCA370730188FGFR1c.1947C>A (p.His649Gln)
c.1935C>A (p.His645Gln)
n.2840C>A
n.769C>A
n.637C>A
c.2127C>A (p.His709Gln)
n.2635C>A
c.1668C>A (p.His556Gln)
c.*1593C>A (n.*1593C>A)
c.*1914C>A (n.*1914C>A)
n.3441C>A
c.1674C>A (p.His558Gln)
c.1917C>A (p.His639Gln)
c.*997C>A (n.*997C>A)
c.1680C>A (p.His560Gln)
c.1941C>A (p.His647Gln)
c.2040C>A (p.His680Gln)
n.4226C>A
n.1469C>A
c.147C>A (p.His49Gln)
n.493C>A
c.*842C>A (n.*842C>A)
c.1923C>A (p.His641Gln)
c.2046C>A (p.His682Gln)
c.1779C>A (p.His593Gln)
c.1773C>A (p.His591Gln)
c.1656C>A (p.His552Gln)
c.2034C>A (p.His678Gln)
c.1767C>A (p.His589Gln)
c.975C>A (p.His325Gln)
n.2220C>A
8g.38414810delCA2740094992FGFR1c.1946del (p.His649ProfsTer16)
c.1934del (p.His645ProfsTer16)
n.2839del
n.768del
n.636del
c.2126del (p.His709ProfsTer16)
n.2634del
c.1667del (p.His556ProfsTer16)
c.*1592del (n.*1592del)
c.*1913del (n.*1913del)
n.3440del
c.1673del (p.His558ProfsTer16)
c.1916del (p.His639ProfsTer16)
c.*996del (n.*996del)
c.1679del (p.His560ProfsTer16)
c.1940del (p.His647ProfsTer16)
c.2039del (p.His680ProfsTer16)
n.4225del
n.1468del
c.146del (p.His49ProfsTer16)
n.492del
c.*841del (n.*841del)
c.1922del (p.His641ProfsTer16)
c.2045del (p.His682ProfsTer16)
c.1778del (p.His593ProfsTer16)
c.1772del (p.His591ProfsTer16)
c.1655del (p.His552ProfsTer16)
c.2033del (p.His678ProfsTer16)
c.1766del (p.His589ProfsTer16)
c.974del (p.His325ProfsTer16)
n.2219del
ClinVar
8g.38414810T>ACA370730191FGFR1c.1946A>T (p.His649Leu)
c.1934A>T (p.His645Leu)
n.2839A>T
n.768A>T
n.636A>T
c.2126A>T (p.His709Leu)
n.2634A>T
c.1667A>T (p.His556Leu)
c.*1592A>T (n.*1592A>T)
c.*1913A>T (n.*1913A>T)
n.3440A>T
c.1673A>T (p.His558Leu)
c.1916A>T (p.His639Leu)
c.*996A>T (n.*996A>T)
c.1679A>T (p.His560Leu)
c.1940A>T (p.His647Leu)
c.2039A>T (p.His680Leu)
n.4225A>T
n.1468A>T
c.146A>T (p.His49Leu)
n.492A>T
c.*841A>T (n.*841A>T)
c.1922A>T (p.His641Leu)
c.2045A>T (p.His682Leu)
c.1778A>T (p.His593Leu)
c.1772A>T (p.His591Leu)
c.1655A>T (p.His552Leu)
c.2033A>T (p.His678Leu)
c.1766A>T (p.His589Leu)
c.974A>T (p.His325Leu)
n.2219A>T
dbSNP
8g.38414810T>CCA370730194FGFR1c.1946A>G (p.His649Arg)
c.1934A>G (p.His645Arg)
n.2839A>G
n.768A>G
n.636A>G
c.2126A>G (p.His709Arg)
n.2634A>G
c.1667A>G (p.His556Arg)
c.*1592A>G (n.*1592A>G)
c.*1913A>G (n.*1913A>G)
n.3440A>G
c.1673A>G (p.His558Arg)
c.1916A>G (p.His639Arg)
c.*996A>G (n.*996A>G)
c.1679A>G (p.His560Arg)
c.1940A>G (p.His647Arg)
c.2039A>G (p.His680Arg)
n.4225A>G
n.1468A>G
c.146A>G (p.His49Arg)
n.492A>G
c.*841A>G (n.*841A>G)
c.1922A>G (p.His641Arg)
c.2045A>G (p.His682Arg)
c.1778A>G (p.His593Arg)
c.1772A>G (p.His591Arg)
c.1655A>G (p.His552Arg)
c.2033A>G (p.His678Arg)
c.1766A>G (p.His589Arg)
c.974A>G (p.His325Arg)
n.2219A>G
8g.38414810T>GCA370730196FGFR1c.1946A>C (p.His649Pro)
c.1934A>C (p.His645Pro)
n.2839A>C
n.768A>C
n.636A>C
c.2126A>C (p.His709Pro)
n.2634A>C
c.1667A>C (p.His556Pro)
c.*1592A>C (n.*1592A>C)
c.*1913A>C (n.*1913A>C)
n.3440A>C
c.1673A>C (p.His558Pro)
c.1916A>C (p.His639Pro)
c.*996A>C (n.*996A>C)
c.1679A>C (p.His560Pro)
c.1940A>C (p.His647Pro)
c.2039A>C (p.His680Pro)
n.4225A>C
n.1468A>C
c.146A>C (p.His49Pro)
n.492A>C
c.*841A>C (n.*841A>C)
c.1922A>C (p.His641Pro)
c.2045A>C (p.His682Pro)
c.1778A>C (p.His593Pro)
c.1772A>C (p.His591Pro)
c.1655A>C (p.His552Pro)
c.2033A>C (p.His678Pro)
c.1766A>C (p.His589Pro)
c.974A>C (p.His325Pro)
n.2219A>C
dbSNP
8g.38414811G>ACA370730199FGFR1c.1945C>T (p.His649Tyr)
c.1933C>T (p.His645Tyr)
n.2838C>T
n.767C>T
n.635C>T
c.2125C>T (p.His709Tyr)
n.2633C>T
c.1666C>T (p.His556Tyr)
c.*1591C>T (n.*1591C>T)
c.*1912C>T (n.*1912C>T)
n.3439C>T
c.1672C>T (p.His558Tyr)
c.1915C>T (p.His639Tyr)
c.*995C>T (n.*995C>T)
c.1678C>T (p.His560Tyr)
c.1939C>T (p.His647Tyr)
c.2038C>T (p.His680Tyr)
n.4224C>T
n.1467C>T
c.145C>T (p.His49Tyr)
n.491C>T
c.*840C>T (n.*840C>T)
c.1921C>T (p.His641Tyr)
c.2044C>T (p.His682Tyr)
c.1777C>T (p.His593Tyr)
c.1771C>T (p.His591Tyr)
c.1654C>T (p.His552Tyr)
c.2032C>T (p.His678Tyr)
c.1765C>T (p.His589Tyr)
c.973C>T (p.His325Tyr)
n.2218C>T
dbSNP
8g.38414811G>CCA370730201FGFR1c.1945C>G (p.His649Asp)
c.1933C>G (p.His645Asp)
n.2838C>G
n.767C>G
n.635C>G
c.2125C>G (p.His709Asp)
n.2633C>G
c.1666C>G (p.His556Asp)
c.*1591C>G (n.*1591C>G)
c.*1912C>G (n.*1912C>G)
n.3439C>G
c.1672C>G (p.His558Asp)
c.1915C>G (p.His639Asp)
c.*995C>G (n.*995C>G)
c.1678C>G (p.His560Asp)
c.1939C>G (p.His647Asp)
c.2038C>G (p.His680Asp)
n.4224C>G
n.1467C>G
c.145C>G (p.His49Asp)
n.491C>G
c.*840C>G (n.*840C>G)
c.1921C>G (p.His641Asp)
c.2044C>G (p.His682Asp)
c.1777C>G (p.His593Asp)
c.1771C>G (p.His591Asp)
c.1654C>G (p.His552Asp)
c.2032C>G (p.His678Asp)
c.1765C>G (p.His589Asp)
c.973C>G (p.His325Asp)
n.2218C>G
dbSNP gnomAD v4
8g.38414811G=CA1777534757FGFR1c.1945C= (p.His649=)
c.1933C= (p.His645=)
n.2838C=
n.767C=
n.635C=
c.2125C= (p.His709=)
n.2633C=
c.1666C= (p.His556=)
c.*1591C= (n.*1591C=)
c.*1912C= (n.*1912C=)
n.3439C=
c.1672C= (p.His558=)
c.1915C= (p.His639=)
c.*995C= (n.*995C=)
c.1678C= (p.His560=)
c.1939C= (p.His647=)
c.2038C= (p.His680=)
n.4224C=
n.1467C=
c.145C= (p.His49=)
n.491C=
c.*840C= (n.*840C=)
c.1921C= (p.His641=)
c.2044C= (p.His682=)
c.1777C= (p.His593=)
c.1771C= (p.His591=)
c.1654C= (p.His552=)
c.2032C= (p.His678=)
c.1765C= (p.His589=)
c.973C= (p.His325=)
n.2218C=
8g.38414811G>TCA370730203FGFR1c.1945C>A (p.His649Asn)
c.1933C>A (p.His645Asn)
n.2838C>A
n.767C>A
n.635C>A
c.2125C>A (p.His709Asn)
n.2633C>A
c.1666C>A (p.His556Asn)
c.*1591C>A (n.*1591C>A)
c.*1912C>A (n.*1912C>A)
n.3439C>A
c.1672C>A (p.His558Asn)
c.1915C>A (p.His639Asn)
c.*995C>A (n.*995C>A)
c.1678C>A (p.His560Asn)
c.1939C>A (p.His647Asn)
c.2038C>A (p.His680Asn)
n.4224C>A
n.1467C>A
c.145C>A (p.His49Asn)
n.491C>A
c.*840C>A (n.*840C>A)
c.1921C>A (p.His641Asn)
c.2044C>A (p.His682Asn)
c.1777C>A (p.His593Asn)
c.1771C>A (p.His591Asn)
c.1654C>A (p.His552Asn)
c.2032C>A (p.His678Asn)
c.1765C>A (p.His589Asn)
c.973C>A (p.His325Asn)
n.2218C>A
dbSNP gnomAD v2 gnomAD v4
8g.38414812A=CA1777534759FGFR1c.1944T= (p.Ile648=)
c.1932T= (p.Ile644=)
n.2837T=
n.766T=
n.634T=
c.2124T= (p.Ile708=)
n.2632T=
c.1665T= (p.Ile555=)
c.*1590T= (n.*1590T=)
c.*1911T= (n.*1911T=)
n.3438T=
c.1671T= (p.Ile557=)
c.1914T= (p.Ile638=)
c.*994T= (n.*994T=)
c.1677T= (p.Ile559=)
c.1938T= (p.Ile646=)
c.2037T= (p.Ile679=)
n.4223T=
n.1466T=
c.144T= (p.Ile48=)
n.490T=
c.*839T= (n.*839T=)
c.1920T= (p.Ile640=)
c.2043T= (p.Ile681=)
c.1776T= (p.Ile592=)
c.1770T= (p.Ile590=)
c.1653T= (p.Ile551=)
c.2031T= (p.Ile677=)
c.1764T= (p.Ile588=)
c.972T= (p.Ile324=)
n.2217T=
8g.38414812A>CCA370730204FGFR1c.1944T>G (p.Ile648Met)
c.1932T>G (p.Ile644Met)
n.2837T>G
n.766T>G
n.634T>G
c.2124T>G (p.Ile708Met)
n.2632T>G
c.1665T>G (p.Ile555Met)
c.*1590T>G (n.*1590T>G)
c.*1911T>G (n.*1911T>G)
n.3438T>G
c.1671T>G (p.Ile557Met)
c.1914T>G (p.Ile638Met)
c.*994T>G (n.*994T>G)
c.1677T>G (p.Ile559Met)
c.1938T>G (p.Ile646Met)
c.2037T>G (p.Ile679Met)
n.4223T>G
n.1466T>G
c.144T>G (p.Ile48Met)
n.490T>G
c.*839T>G (n.*839T>G)
c.1920T>G (p.Ile640Met)
c.2043T>G (p.Ile681Met)
c.1776T>G (p.Ile592Met)
c.1770T>G (p.Ile590Met)
c.1653T>G (p.Ile551Met)
c.2031T>G (p.Ile677Met)
c.1764T>G (p.Ile588Met)
c.972T>G (p.Ile324Met)
n.2217T>G
8g.38414812A>GCA4718232FGFR1c.1944T>C (p.Ile648=)
c.1932T>C (p.Ile644=)
n.2837T>C
n.766T>C
n.634T>C
c.2124T>C (p.Ile708=)
n.2632T>C
c.1665T>C (p.Ile555=)
c.*1590T>C (n.*1590T>C)
c.*1911T>C (n.*1911T>C)
n.3438T>C
c.1671T>C (p.Ile557=)
c.1914T>C (p.Ile638=)
c.*994T>C (n.*994T>C)
c.1677T>C (p.Ile559=)
c.1938T>C (p.Ile646=)
c.2037T>C (p.Ile679=)
n.4223T>C
n.1466T>C
c.144T>C (p.Ile48=)
n.490T>C
c.*839T>C (n.*839T>C)
c.1920T>C (p.Ile640=)
c.2043T>C (p.Ile681=)
c.1776T>C (p.Ile592=)
c.1770T>C (p.Ile590=)
c.1653T>C (p.Ile551=)
c.2031T>C (p.Ile677=)
c.1764T>C (p.Ile588=)
c.972T>C (p.Ile324=)
n.2217T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38414812A>TCA460395814FGFR1c.1944T>A (p.Ile648=)
c.1932T>A (p.Ile644=)
n.2837T>A
n.766T>A
n.634T>A
c.2124T>A (p.Ile708=)
n.2632T>A
c.1665T>A (p.Ile555=)
c.*1590T>A (n.*1590T>A)
c.*1911T>A (n.*1911T>A)
n.3438T>A
c.1671T>A (p.Ile557=)
c.1914T>A (p.Ile638=)
c.*994T>A (n.*994T>A)
c.1677T>A (p.Ile559=)
c.1938T>A (p.Ile646=)
c.2037T>A (p.Ile679=)
n.4223T>A
n.1466T>A
c.144T>A (p.Ile48=)
n.490T>A
c.*839T>A (n.*839T>A)
c.1920T>A (p.Ile640=)
c.2043T>A (p.Ile681=)
c.1776T>A (p.Ile592=)
c.1770T>A (p.Ile590=)
c.1653T>A (p.Ile551=)
c.2031T>A (p.Ile677=)
c.1764T>A (p.Ile588=)
c.972T>A (p.Ile324=)
n.2217T>A
dbSNP
8g.38414813A=CA1777534761FGFR1c.1943T= (p.Ile648=)
c.1931T= (p.Ile644=)
n.2836T=
n.765T=
n.633T=
c.2123T= (p.Ile708=)
n.2631T=
c.1664T= (p.Ile555=)
c.*1589T= (n.*1589T=)
c.*1910T= (n.*1910T=)
n.3437T=
c.1670T= (p.Ile557=)
c.1913T= (p.Ile638=)
c.*993T= (n.*993T=)
c.1676T= (p.Ile559=)
c.1937T= (p.Ile646=)
c.2036T= (p.Ile679=)
n.4222T=
n.1465T=
c.143T= (p.Ile48=)
n.489T=
c.*838T= (n.*838T=)
c.1919T= (p.Ile640=)
c.2042T= (p.Ile681=)
c.1775T= (p.Ile592=)
c.1769T= (p.Ile590=)
c.1652T= (p.Ile551=)
c.2030T= (p.Ile677=)
c.1763T= (p.Ile588=)
c.971T= (p.Ile324=)
n.2216T=
8g.38414813A>CCA370730209FGFR1c.1943T>G (p.Ile648Ser)
c.1931T>G (p.Ile644Ser)
n.2836T>G
n.765T>G
n.633T>G
c.2123T>G (p.Ile708Ser)
n.2631T>G
c.1664T>G (p.Ile555Ser)
c.*1589T>G (n.*1589T>G)
c.*1910T>G (n.*1910T>G)
n.3437T>G
c.1670T>G (p.Ile557Ser)
c.1913T>G (p.Ile638Ser)
c.*993T>G (n.*993T>G)
c.1676T>G (p.Ile559Ser)
c.1937T>G (p.Ile646Ser)
c.2036T>G (p.Ile679Ser)
n.4222T>G
n.1465T>G
c.143T>G (p.Ile48Ser)
n.489T>G
c.*838T>G (n.*838T>G)
c.1919T>G (p.Ile640Ser)
c.2042T>G (p.Ile681Ser)
c.1775T>G (p.Ile592Ser)
c.1769T>G (p.Ile590Ser)
c.1652T>G (p.Ile551Ser)
c.2030T>G (p.Ile677Ser)
c.1763T>G (p.Ile588Ser)
c.971T>G (p.Ile324Ser)
n.2216T>G
dbSNP
8g.38414813A>GCA370730211FGFR1c.1943T>C (p.Ile648Thr)
c.1931T>C (p.Ile644Thr)
n.2836T>C
n.765T>C
n.633T>C
c.2123T>C (p.Ile708Thr)
n.2631T>C
c.1664T>C (p.Ile555Thr)
c.*1589T>C (n.*1589T>C)
c.*1910T>C (n.*1910T>C)
n.3437T>C
c.1670T>C (p.Ile557Thr)
c.1913T>C (p.Ile638Thr)
c.*993T>C (n.*993T>C)
c.1676T>C (p.Ile559Thr)
c.1937T>C (p.Ile646Thr)
c.2036T>C (p.Ile679Thr)
n.4222T>C
n.1465T>C
c.143T>C (p.Ile48Thr)
n.489T>C
c.*838T>C (n.*838T>C)
c.1919T>C (p.Ile640Thr)
c.2042T>C (p.Ile681Thr)
c.1775T>C (p.Ile592Thr)
c.1769T>C (p.Ile590Thr)
c.1652T>C (p.Ile551Thr)
c.2030T>C (p.Ile677Thr)
c.1763T>C (p.Ile588Thr)
c.971T>C (p.Ile324Thr)
n.2216T>C
dbSNP
8g.38414813A>TCA370730207FGFR1c.1943T>A (p.Ile648Asn)
c.1931T>A (p.Ile644Asn)
n.2836T>A
n.765T>A
n.633T>A
c.2123T>A (p.Ile708Asn)
n.2631T>A
c.1664T>A (p.Ile555Asn)
c.*1589T>A (n.*1589T>A)
c.*1910T>A (n.*1910T>A)
n.3437T>A
c.1670T>A (p.Ile557Asn)
c.1913T>A (p.Ile638Asn)
c.*993T>A (n.*993T>A)
c.1676T>A (p.Ile559Asn)
c.1937T>A (p.Ile646Asn)
c.2036T>A (p.Ile679Asn)
n.4222T>A
n.1465T>A
c.143T>A (p.Ile48Asn)
n.489T>A
c.*838T>A (n.*838T>A)
c.1919T>A (p.Ile640Asn)
c.2042T>A (p.Ile681Asn)
c.1775T>A (p.Ile592Asn)
c.1769T>A (p.Ile590Asn)
c.1652T>A (p.Ile551Asn)
c.2030T>A (p.Ile677Asn)
c.1763T>A (p.Ile588Asn)
c.971T>A (p.Ile324Asn)
n.2216T>A
8g.38414814T>ACA370730214FGFR1c.1942A>T (p.Ile648Phe)
c.1930A>T (p.Ile644Phe)
n.2835A>T
n.764A>T
n.632A>T
c.2122A>T (p.Ile708Phe)
n.2630A>T
c.1663A>T (p.Ile555Phe)
c.*1588A>T (n.*1588A>T)
c.*1909A>T (n.*1909A>T)
n.3436A>T
c.1669A>T (p.Ile557Phe)
c.1912A>T (p.Ile638Phe)
c.*992A>T (n.*992A>T)
c.1675A>T (p.Ile559Phe)
c.1936A>T (p.Ile646Phe)
c.2035A>T (p.Ile679Phe)
n.4221A>T
n.1464A>T
c.142A>T (p.Ile48Phe)
n.488A>T
c.*837A>T (n.*837A>T)
c.1918A>T (p.Ile640Phe)
c.2041A>T (p.Ile681Phe)
c.1774A>T (p.Ile592Phe)
c.1768A>T (p.Ile590Phe)
c.1651A>T (p.Ile551Phe)
c.2029A>T (p.Ile677Phe)
c.1762A>T (p.Ile588Phe)
c.970A>T (p.Ile324Phe)
n.2215A>T
dbSNP
8g.38414814T>CCA370730216FGFR1c.1942A>G (p.Ile648Val)
c.1930A>G (p.Ile644Val)
n.2835A>G
n.764A>G
n.632A>G
c.2122A>G (p.Ile708Val)
n.2630A>G
c.1663A>G (p.Ile555Val)
c.*1588A>G (n.*1588A>G)
c.*1909A>G (n.*1909A>G)
n.3436A>G
c.1669A>G (p.Ile557Val)
c.1912A>G (p.Ile638Val)
c.*992A>G (n.*992A>G)
c.1675A>G (p.Ile559Val)
c.1936A>G (p.Ile646Val)
c.2035A>G (p.Ile679Val)
n.4221A>G
n.1464A>G
c.142A>G (p.Ile48Val)
n.488A>G
c.*837A>G (n.*837A>G)
c.1918A>G (p.Ile640Val)
c.2041A>G (p.Ile681Val)
c.1774A>G (p.Ile592Val)
c.1768A>G (p.Ile590Val)
c.1651A>G (p.Ile551Val)
c.2029A>G (p.Ile677Val)
c.1762A>G (p.Ile588Val)
c.970A>G (p.Ile324Val)
n.2215A>G
dbSNP gnomAD v3 gnomAD v4
8g.38414814T>GCA370730218FGFR1c.1942A>C (p.Ile648Leu)
c.1930A>C (p.Ile644Leu)
n.2835A>C
n.764A>C
n.632A>C
c.2122A>C (p.Ile708Leu)
n.2630A>C
c.1663A>C (p.Ile555Leu)
c.*1588A>C (n.*1588A>C)
c.*1909A>C (n.*1909A>C)
n.3436A>C
c.1669A>C (p.Ile557Leu)
c.1912A>C (p.Ile638Leu)
c.*992A>C (n.*992A>C)
c.1675A>C (p.Ile559Leu)
c.1936A>C (p.Ile646Leu)
c.2035A>C (p.Ile679Leu)
n.4221A>C
n.1464A>C
c.142A>C (p.Ile48Leu)
n.488A>C
c.*837A>C (n.*837A>C)
c.1918A>C (p.Ile640Leu)
c.2041A>C (p.Ile681Leu)
c.1774A>C (p.Ile592Leu)
c.1768A>C (p.Ile590Leu)
c.1651A>C (p.Ile551Leu)
c.2029A>C (p.Ile677Leu)
c.1762A>C (p.Ile588Leu)
c.970A>C (p.Ile324Leu)
n.2215A>C
8g.38414814T=CA1777534762FGFR1c.1942A= (p.Ile648=)
c.1930A= (p.Ile644=)
n.2835A=
n.764A=
n.632A=
c.2122A= (p.Ile708=)
n.2630A=
c.1663A= (p.Ile555=)
c.*1588A= (n.*1588A=)
c.*1909A= (n.*1909A=)
n.3436A=
c.1669A= (p.Ile557=)
c.1912A= (p.Ile638=)
c.*992A= (n.*992A=)
c.1675A= (p.Ile559=)
c.1936A= (p.Ile646=)
c.2035A= (p.Ile679=)
n.4221A=
n.1464A=
c.142A= (p.Ile48=)
n.488A=
c.*837A= (n.*837A=)
c.1918A= (p.Ile640=)
c.2041A= (p.Ile681=)
c.1774A= (p.Ile592=)
c.1768A= (p.Ile590=)
c.1651A= (p.Ile551=)
c.2029A= (p.Ile677=)
c.1762A= (p.Ile588=)
c.970A= (p.Ile324=)
n.2215A=
8g.38414815G>ACA460395815FGFR1c.1941C>T (p.Asp647=)
c.1929C>T (p.Asp643=)
n.2834C>T
n.763C>T
n.631C>T
c.2121C>T (p.Asp707=)
n.2629C>T
c.1662C>T (p.Asp554=)
c.*1587C>T (n.*1587C>T)
c.*1908C>T (n.*1908C>T)
n.3435C>T
c.1668C>T (p.Asp556=)
c.1911C>T (p.Asp637=)
c.*991C>T (n.*991C>T)
c.1674C>T (p.Asp558=)
c.1935C>T (p.Asp645=)
c.2034C>T (p.Asp678=)
n.4220C>T
n.1463C>T
c.141C>T (p.Asp47=)
n.487C>T
c.*836C>T (n.*836C>T)
c.1917C>T (p.Asp639=)
c.2040C>T (p.Asp680=)
c.1773C>T (p.Asp591=)
c.1767C>T (p.Asp589=)
c.1650C>T (p.Asp550=)
c.2028C>T (p.Asp676=)
c.1761C>T (p.Asp587=)
c.969C>T (p.Asp323=)
n.2214C>T
dbSNP
8g.38414815G>CCA370730221FGFR1c.1941C>G (p.Asp647Glu)
c.1929C>G (p.Asp643Glu)
n.2834C>G
n.763C>G
n.631C>G
c.2121C>G (p.Asp707Glu)
n.2629C>G
c.1662C>G (p.Asp554Glu)
c.*1587C>G (n.*1587C>G)
c.*1908C>G (n.*1908C>G)
n.3435C>G
c.1668C>G (p.Asp556Glu)
c.1911C>G (p.Asp637Glu)
c.*991C>G (n.*991C>G)
c.1674C>G (p.Asp558Glu)
c.1935C>G (p.Asp645Glu)
c.2034C>G (p.Asp678Glu)
n.4220C>G
n.1463C>G
c.141C>G (p.Asp47Glu)
n.487C>G
c.*836C>G (n.*836C>G)
c.1917C>G (p.Asp639Glu)
c.2040C>G (p.Asp680Glu)
c.1773C>G (p.Asp591Glu)
c.1767C>G (p.Asp589Glu)
c.1650C>G (p.Asp550Glu)
c.2028C>G (p.Asp676Glu)
c.1761C>G (p.Asp587Glu)
c.969C>G (p.Asp323Glu)
n.2214C>G
dbSNP
8g.38414815G>TCA370730223FGFR1c.1941C>A (p.Asp647Glu)
c.1929C>A (p.Asp643Glu)
n.2834C>A
n.763C>A
n.631C>A
c.2121C>A (p.Asp707Glu)
n.2629C>A
c.1662C>A (p.Asp554Glu)
c.*1587C>A (n.*1587C>A)
c.*1908C>A (n.*1908C>A)
n.3435C>A
c.1668C>A (p.Asp556Glu)
c.1911C>A (p.Asp637Glu)
c.*991C>A (n.*991C>A)
c.1674C>A (p.Asp558Glu)
c.1935C>A (p.Asp645Glu)
c.2034C>A (p.Asp678Glu)
n.4220C>A
n.1463C>A
c.141C>A (p.Asp47Glu)
n.487C>A
c.*836C>A (n.*836C>A)
c.1917C>A (p.Asp639Glu)
c.2040C>A (p.Asp680Glu)
c.1773C>A (p.Asp591Glu)
c.1767C>A (p.Asp589Glu)
c.1650C>A (p.Asp550Glu)
c.2028C>A (p.Asp676Glu)
c.1761C>A (p.Asp587Glu)
c.969C>A (p.Asp323Glu)
n.2214C>A
8g.38414816T>ACA370730227FGFR1c.1940A>T (p.Asp647Val)
c.1928A>T (p.Asp643Val)
n.2833A>T
n.762A>T
n.630A>T
c.2120A>T (p.Asp707Val)
n.2628A>T
c.1661A>T (p.Asp554Val)
c.*1586A>T (n.*1586A>T)
c.*1907A>T (n.*1907A>T)
n.3434A>T
c.1667A>T (p.Asp556Val)
c.1910A>T (p.Asp637Val)
c.*990A>T (n.*990A>T)
c.1673A>T (p.Asp558Val)
c.1934A>T (p.Asp645Val)
c.2033A>T (p.Asp678Val)
n.4219A>T
n.1462A>T
c.140A>T (p.Asp47Val)
n.486A>T
c.*835A>T (n.*835A>T)
c.1916A>T (p.Asp639Val)
c.2039A>T (p.Asp680Val)
c.1772A>T (p.Asp591Val)
c.1766A>T (p.Asp589Val)
c.1649A>T (p.Asp550Val)
c.2027A>T (p.Asp676Val)
c.1760A>T (p.Asp587Val)
c.968A>T (p.Asp323Val)
n.2213A>T
8g.38414816T>CCA370730229FGFR1c.1940A>G (p.Asp647Gly)
c.1928A>G (p.Asp643Gly)
n.2833A>G
n.762A>G
n.630A>G
c.2120A>G (p.Asp707Gly)
n.2628A>G
c.1661A>G (p.Asp554Gly)
c.*1586A>G (n.*1586A>G)
c.*1907A>G (n.*1907A>G)
n.3434A>G
c.1667A>G (p.Asp556Gly)
c.1910A>G (p.Asp637Gly)
c.*990A>G (n.*990A>G)
c.1673A>G (p.Asp558Gly)
c.1934A>G (p.Asp645Gly)
c.2033A>G (p.Asp678Gly)
n.4219A>G
n.1462A>G
c.140A>G (p.Asp47Gly)
n.486A>G
c.*835A>G (n.*835A>G)
c.1916A>G (p.Asp639Gly)
c.2039A>G (p.Asp680Gly)
c.1772A>G (p.Asp591Gly)
c.1766A>G (p.Asp589Gly)
c.1649A>G (p.Asp550Gly)
c.2027A>G (p.Asp676Gly)
c.1760A>G (p.Asp587Gly)
c.968A>G (p.Asp323Gly)
n.2213A>G
8g.38414816T>GCA370730231FGFR1c.1940A>C (p.Asp647Ala)
c.1928A>C (p.Asp643Ala)
n.2833A>C
n.762A>C
n.630A>C
c.2120A>C (p.Asp707Ala)
n.2628A>C
c.1661A>C (p.Asp554Ala)
c.*1586A>C (n.*1586A>C)
c.*1907A>C (n.*1907A>C)
n.3434A>C
c.1667A>C (p.Asp556Ala)
c.1910A>C (p.Asp637Ala)
c.*990A>C (n.*990A>C)
c.1673A>C (p.Asp558Ala)
c.1934A>C (p.Asp645Ala)
c.2033A>C (p.Asp678Ala)
n.4219A>C
n.1462A>C
c.140A>C (p.Asp47Ala)
n.486A>C
c.*835A>C (n.*835A>C)
c.1916A>C (p.Asp639Ala)
c.2039A>C (p.Asp680Ala)
c.1772A>C (p.Asp591Ala)
c.1766A>C (p.Asp589Ala)
c.1649A>C (p.Asp550Ala)
c.2027A>C (p.Asp676Ala)
c.1760A>C (p.Asp587Ala)
c.968A>C (p.Asp323Ala)
n.2213A>C
8g.38414817C>ACA370730232FGFR1c.1939G>T (p.Asp647Tyr)
c.1927G>T (p.Asp643Tyr)
n.2832G>T
n.761G>T
n.629G>T
c.2119G>T (p.Asp707Tyr)
n.2627G>T
c.1660G>T (p.Asp554Tyr)
c.*1585G>T (n.*1585G>T)
c.*1906G>T (n.*1906G>T)
n.3433G>T
c.1666G>T (p.Asp556Tyr)
c.1909G>T (p.Asp637Tyr)
c.*989G>T (n.*989G>T)
c.1672G>T (p.Asp558Tyr)
c.1933G>T (p.Asp645Tyr)
c.2032G>T (p.Asp678Tyr)
n.4218G>T
n.1461G>T
c.139G>T (p.Asp47Tyr)
n.485G>T
c.*834G>T (n.*834G>T)
c.1915G>T (p.Asp639Tyr)
c.2038G>T (p.Asp680Tyr)
c.1771G>T (p.Asp591Tyr)
c.1765G>T (p.Asp589Tyr)
c.1648G>T (p.Asp550Tyr)
c.2026G>T (p.Asp676Tyr)
c.1759G>T (p.Asp587Tyr)
c.967G>T (p.Asp323Tyr)
n.2212G>T
dbSNP
8g.38414817C=CA1777534764FGFR1c.1939G= (p.Asp647=)
c.1927G= (p.Asp643=)
n.2832G=
n.761G=
n.629G=
c.2119G= (p.Asp707=)
n.2627G=
c.1660G= (p.Asp554=)
c.*1585G= (n.*1585G=)
c.*1906G= (n.*1906G=)
n.3433G=
c.1666G= (p.Asp556=)
c.1909G= (p.Asp637=)
c.*989G= (n.*989G=)
c.1672G= (p.Asp558=)
c.1933G= (p.Asp645=)
c.2032G= (p.Asp678=)
n.4218G=
n.1461G=
c.139G= (p.Asp47=)
n.485G=
c.*834G= (n.*834G=)
c.1915G= (p.Asp639=)
c.2038G= (p.Asp680=)
c.1771G= (p.Asp591=)
c.1765G= (p.Asp589=)
c.1648G= (p.Asp550=)
c.2026G= (p.Asp676=)
c.1759G= (p.Asp587=)
c.967G= (p.Asp323=)
n.2212G=
8g.38414817C>GCA370730234FGFR1c.1939G>C (p.Asp647His)
c.1927G>C (p.Asp643His)
n.2832G>C
n.761G>C
n.629G>C
c.2119G>C (p.Asp707His)
n.2627G>C
c.1660G>C (p.Asp554His)
c.*1585G>C (n.*1585G>C)
c.*1906G>C (n.*1906G>C)
n.3433G>C
c.1666G>C (p.Asp556His)
c.1909G>C (p.Asp637His)
c.*989G>C (n.*989G>C)
c.1672G>C (p.Asp558His)
c.1933G>C (p.Asp645His)
c.2032G>C (p.Asp678His)
n.4218G>C
n.1461G>C
c.139G>C (p.Asp47His)
n.485G>C
c.*834G>C (n.*834G>C)
c.1915G>C (p.Asp639His)
c.2038G>C (p.Asp680His)
c.1771G>C (p.Asp591His)
c.1765G>C (p.Asp589His)
c.1648G>C (p.Asp550His)
c.2026G>C (p.Asp676His)
c.1759G>C (p.Asp587His)
c.967G>C (p.Asp323His)
n.2212G>C
dbSNP
8g.38414817C>TCA370730236FGFR1c.1939G>A (p.Asp647Asn)
c.1927G>A (p.Asp643Asn)
n.2832G>A
n.761G>A
n.629G>A
c.2119G>A (p.Asp707Asn)
n.2627G>A
c.1660G>A (p.Asp554Asn)
c.*1585G>A (n.*1585G>A)
c.*1906G>A (n.*1906G>A)
n.3433G>A
c.1666G>A (p.Asp556Asn)
c.1909G>A (p.Asp637Asn)
c.*989G>A (n.*989G>A)
c.1672G>A (p.Asp558Asn)
c.1933G>A (p.Asp645Asn)
c.2032G>A (p.Asp678Asn)
n.4218G>A
n.1461G>A
c.139G>A (p.Asp47Asn)
n.485G>A
c.*834G>A (n.*834G>A)
c.1915G>A (p.Asp639Asn)
c.2038G>A (p.Asp680Asn)
c.1771G>A (p.Asp591Asn)
c.1765G>A (p.Asp589Asn)
c.1648G>A (p.Asp550Asn)
c.2026G>A (p.Asp676Asn)
c.1759G>A (p.Asp587Asn)
c.967G>A (p.Asp323Asn)
n.2212G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
8g.38414818C>ACA460395816FGFR1c.1938G>T (p.Arg646=)
c.1926G>T (p.Arg642=)
n.2831G>T
n.760G>T
n.628G>T
c.2118G>T (p.Arg706=)
n.2626G>T
c.1659G>T (p.Arg553=)
c.*1584G>T (n.*1584G>T)
c.*1905G>T (n.*1905G>T)
n.3432G>T
c.1665G>T (p.Arg555=)
c.1908G>T (p.Arg636=)
c.*988G>T (n.*988G>T)
c.1671G>T (p.Arg557=)
c.1932G>T (p.Arg644=)
c.2031G>T (p.Arg677=)
n.4217G>T
n.1460G>T
c.138G>T (p.Arg46=)
n.484G>T
c.*833G>T (n.*833G>T)
c.1914G>T (p.Arg638=)
c.2037G>T (p.Arg679=)
c.1770G>T (p.Arg590=)
c.1764G>T (p.Arg588=)
c.1647G>T (p.Arg549=)
c.2025G>T (p.Arg675=)
c.1758G>T (p.Arg586=)
c.966G>T (p.Arg322=)
n.2211G>T
dbSNP
8g.38414818C>GCA460395817FGFR1c.1938G>C (p.Arg646=)
c.1926G>C (p.Arg642=)
n.2831G>C
n.760G>C
n.628G>C
c.2118G>C (p.Arg706=)
n.2626G>C
c.1659G>C (p.Arg553=)
c.*1584G>C (n.*1584G>C)
c.*1905G>C (n.*1905G>C)
n.3432G>C
c.1665G>C (p.Arg555=)
c.1908G>C (p.Arg636=)
c.*988G>C (n.*988G>C)
c.1671G>C (p.Arg557=)
c.1932G>C (p.Arg644=)
c.2031G>C (p.Arg677=)
n.4217G>C
n.1460G>C
c.138G>C (p.Arg46=)
n.484G>C
c.*833G>C (n.*833G>C)
c.1914G>C (p.Arg638=)
c.2037G>C (p.Arg679=)
c.1770G>C (p.Arg590=)
c.1764G>C (p.Arg588=)
c.1647G>C (p.Arg549=)
c.2025G>C (p.Arg675=)
c.1758G>C (p.Arg586=)
c.966G>C (p.Arg322=)
n.2211G>C
dbSNP
8g.38414818C>TCA460395818FGFR1c.1938G>A (p.Arg646=)
c.1926G>A (p.Arg642=)
n.2831G>A
n.760G>A
n.628G>A
c.2118G>A (p.Arg706=)
n.2626G>A
c.1659G>A (p.Arg553=)
c.*1584G>A (n.*1584G>A)
c.*1905G>A (n.*1905G>A)
n.3432G>A
c.1665G>A (p.Arg555=)
c.1908G>A (p.Arg636=)
c.*988G>A (n.*988G>A)
c.1671G>A (p.Arg557=)
c.1932G>A (p.Arg644=)
c.2031G>A (p.Arg677=)
n.4217G>A
n.1460G>A
c.138G>A (p.Arg46=)
n.484G>A
c.*833G>A (n.*833G>A)
c.1914G>A (p.Arg638=)
c.2037G>A (p.Arg679=)
c.1770G>A (p.Arg590=)
c.1764G>A (p.Arg588=)
c.1647G>A (p.Arg549=)
c.2025G>A (p.Arg675=)
c.1758G>A (p.Arg586=)
c.966G>A (p.Arg322=)
n.2211G>A
dbSNP
8g.38414818_38414819delinsTTCA645564410FGFR1c.1937_1938delinsAA (p.Arg646Gln)
c.1925_1926delinsAA (p.Arg642Gln)
n.2830_2831delinsAA
n.759_760delinsAA
n.627_628delinsAA
c.2117_2118delinsAA (p.Arg706Gln)
n.2625_2626delinsAA
c.1658_1659delinsAA (p.Arg553Gln)
c.*1583_*1584delinsAA (n.*1583_*1584delinsAA)
c.*1904_*1905delinsAA (n.*1904_*1905delinsAA)
n.3431_3432delinsAA
c.1664_1665delinsAA (p.Arg555Gln)
c.1907_1908delinsAA (p.Arg636Gln)
c.*987_*988delinsAA (n.*987_*988delinsAA)
c.1670_1671delinsAA (p.Arg557Gln)
c.1931_1932delinsAA (p.Arg644Gln)
c.2030_2031delinsAA (p.Arg677Gln)
n.4216_4217delinsAA
n.1459_1460delinsAA
c.137_138delinsAA (p.Arg46Gln)
n.483_484delinsAA
c.*832_*833delinsAA (n.*832_*833delinsAA)
c.1913_1914delinsAA (p.Arg638Gln)
c.2036_2037delinsAA (p.Arg679Gln)
c.1769_1770delinsAA (p.Arg590Gln)
c.1763_1764delinsAA (p.Arg588Gln)
c.1646_1647delinsAA (p.Arg549Gln)
c.2024_2025delinsAA (p.Arg675Gln)
c.1757_1758delinsAA (p.Arg586Gln)
c.965_966delinsAA (p.Arg322Gln)
n.2210_2211delinsAA
COSMIC COSMIC COSMIC COSMIC COSMIC
8g.38414819C>ACA370730241FGFR1c.1937G>T (p.Arg646Leu)
c.1925G>T (p.Arg642Leu)
n.2830G>T
n.759G>T
n.627G>T
c.2117G>T (p.Arg706Leu)
n.2625G>T
c.1658G>T (p.Arg553Leu)
c.*1583G>T (n.*1583G>T)
c.*1904G>T (n.*1904G>T)
n.3431G>T
c.1664G>T (p.Arg555Leu)
c.1907G>T (p.Arg636Leu)
c.*987G>T (n.*987G>T)
c.1670G>T (p.Arg557Leu)
c.1931G>T (p.Arg644Leu)
c.2030G>T (p.Arg677Leu)
n.4216G>T
n.1459G>T
c.137G>T (p.Arg46Leu)
n.483G>T
c.*832G>T (n.*832G>T)
c.1913G>T (p.Arg638Leu)
c.2036G>T (p.Arg679Leu)
c.1769G>T (p.Arg590Leu)
c.1763G>T (p.Arg588Leu)
c.1646G>T (p.Arg549Leu)
c.2024G>T (p.Arg675Leu)
c.1757G>T (p.Arg586Leu)
c.965G>T (p.Arg322Leu)
n.2210G>T
dbSNP
8g.38414819C=CA1777534766FGFR1c.1937G= (p.Arg646=)
c.1925G= (p.Arg642=)
n.2830G=
n.759G=
n.627G=
c.2117G= (p.Arg706=)
n.2625G=
c.1658G= (p.Arg553=)
c.*1583G= (n.*1583G=)
c.*1904G= (n.*1904G=)
n.3431G=
c.1664G= (p.Arg555=)
c.1907G= (p.Arg636=)
c.*987G= (n.*987G=)
c.1670G= (p.Arg557=)
c.1931G= (p.Arg644=)
c.2030G= (p.Arg677=)
n.4216G=
n.1459G=
c.137G= (p.Arg46=)
n.483G=
c.*832G= (n.*832G=)
c.1913G= (p.Arg638=)
c.2036G= (p.Arg679=)
c.1769G= (p.Arg590=)
c.1763G= (p.Arg588=)
c.1646G= (p.Arg549=)
c.2024G= (p.Arg675=)
c.1757G= (p.Arg586=)
c.965G= (p.Arg322=)
n.2210G=
8g.38414819C>GCA370730243FGFR1c.1937G>C (p.Arg646Pro)
c.1925G>C (p.Arg642Pro)
n.2830G>C
n.759G>C
n.627G>C
c.2117G>C (p.Arg706Pro)
n.2625G>C
c.1658G>C (p.Arg553Pro)
c.*1583G>C (n.*1583G>C)
c.*1904G>C (n.*1904G>C)
n.3431G>C
c.1664G>C (p.Arg555Pro)
c.1907G>C (p.Arg636Pro)
c.*987G>C (n.*987G>C)
c.1670G>C (p.Arg557Pro)
c.1931G>C (p.Arg644Pro)
c.2030G>C (p.Arg677Pro)
n.4216G>C
n.1459G>C
c.137G>C (p.Arg46Pro)
n.483G>C
c.*832G>C (n.*832G>C)
c.1913G>C (p.Arg638Pro)
c.2036G>C (p.Arg679Pro)
c.1769G>C (p.Arg590Pro)
c.1763G>C (p.Arg588Pro)
c.1646G>C (p.Arg549Pro)
c.2024G>C (p.Arg675Pro)
c.1757G>C (p.Arg586Pro)
c.965G>C (p.Arg322Pro)
n.2210G>C
dbSNP
8g.38414819C>TCA370730239FGFR1c.1937G>A (p.Arg646Gln)
c.1925G>A (p.Arg642Gln)
n.2830G>A
n.759G>A
n.627G>A
c.2117G>A (p.Arg706Gln)
n.2625G>A
c.1658G>A (p.Arg553Gln)
c.*1583G>A (n.*1583G>A)
c.*1904G>A (n.*1904G>A)
n.3431G>A
c.1664G>A (p.Arg555Gln)
c.1907G>A (p.Arg636Gln)
c.*987G>A (n.*987G>A)
c.1670G>A (p.Arg557Gln)
c.1931G>A (p.Arg644Gln)
c.2030G>A (p.Arg677Gln)
n.4216G>A
n.1459G>A
c.137G>A (p.Arg46Gln)
n.483G>A
c.*832G>A (n.*832G>A)
c.1913G>A (p.Arg638Gln)
c.2036G>A (p.Arg679Gln)
c.1769G>A (p.Arg590Gln)
c.1763G>A (p.Arg588Gln)
c.1646G>A (p.Arg549Gln)
c.2024G>A (p.Arg675Gln)
c.1757G>A (p.Arg586Gln)
c.965G>A (p.Arg322Gln)
n.2210G>A
dbSNP gnomAD v2 gnomAD v4
8g.38414820G>ACA370730247FGFR1c.1936C>T (p.Arg646Trp)
c.1924C>T (p.Arg642Trp)
n.2829C>T
n.758C>T
n.626C>T
c.2116C>T (p.Arg706Trp)
n.2624C>T
c.1657C>T (p.Arg553Trp)
c.*1582C>T (n.*1582C>T)
c.*1903C>T (n.*1903C>T)
n.3430C>T
c.1663C>T (p.Arg555Trp)
c.1906C>T (p.Arg636Trp)
c.*986C>T (n.*986C>T)
c.1669C>T (p.Arg557Trp)
c.1930C>T (p.Arg644Trp)
c.2029C>T (p.Arg677Trp)
n.4215C>T
n.1458C>T
c.136C>T (p.Arg46Trp)
n.482C>T
c.*831C>T (n.*831C>T)
c.1912C>T (p.Arg638Trp)
c.2035C>T (p.Arg679Trp)
c.1768C>T (p.Arg590Trp)
c.1762C>T (p.Arg588Trp)
c.1645C>T (p.Arg549Trp)
c.2023C>T (p.Arg675Trp)
c.1756C>T (p.Arg586Trp)
c.964C>T (p.Arg322Trp)
n.2209C>T
ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
8g.38414820G>CCA370730249FGFR1c.1936C>G (p.Arg646Gly)
c.1924C>G (p.Arg642Gly)
n.2829C>G
n.758C>G
n.626C>G
c.2116C>G (p.Arg706Gly)
n.2624C>G
c.1657C>G (p.Arg553Gly)
c.*1582C>G (n.*1582C>G)
c.*1903C>G (n.*1903C>G)
n.3430C>G
c.1663C>G (p.Arg555Gly)
c.1906C>G (p.Arg636Gly)
c.*986C>G (n.*986C>G)
c.1669C>G (p.Arg557Gly)
c.1930C>G (p.Arg644Gly)
c.2029C>G (p.Arg677Gly)
n.4215C>G
n.1458C>G
c.136C>G (p.Arg46Gly)
n.482C>G
c.*831C>G (n.*831C>G)
c.1912C>G (p.Arg638Gly)
c.2035C>G (p.Arg679Gly)
c.1768C>G (p.Arg590Gly)
c.1762C>G (p.Arg588Gly)
c.1645C>G (p.Arg549Gly)
c.2023C>G (p.Arg675Gly)
c.1756C>G (p.Arg586Gly)
c.964C>G (p.Arg322Gly)
n.2209C>G
ClinVar dbSNP
8g.38414820G=CA1777534769FGFR1c.1936C= (p.Arg646=)
c.1924C= (p.Arg642=)
n.2829C=
n.758C=
n.626C=
c.2116C= (p.Arg706=)
n.2624C=
c.1657C= (p.Arg553=)
c.*1582C= (n.*1582C=)
c.*1903C= (n.*1903C=)
n.3430C=
c.1663C= (p.Arg555=)
c.1906C= (p.Arg636=)
c.*986C= (n.*986C=)
c.1669C= (p.Arg557=)
c.1930C= (p.Arg644=)
c.2029C= (p.Arg677=)
n.4215C=
n.1458C=
c.136C= (p.Arg46=)
n.482C=
c.*831C= (n.*831C=)
c.1912C= (p.Arg638=)
c.2035C= (p.Arg679=)
c.1768C= (p.Arg590=)
c.1762C= (p.Arg588=)
c.1645C= (p.Arg549=)
c.2023C= (p.Arg675=)
c.1756C= (p.Arg586=)
c.964C= (p.Arg322=)
n.2209C=
8g.38414820G>TCA4718233FGFR1c.1936C>A (p.Arg646=)
c.1924C>A (p.Arg642=)
n.2829C>A
n.758C>A
n.626C>A
c.2116C>A (p.Arg706=)
n.2624C>A
c.1657C>A (p.Arg553=)
c.*1582C>A (n.*1582C>A)
c.*1903C>A (n.*1903C>A)
n.3430C>A
c.1663C>A (p.Arg555=)
c.1906C>A (p.Arg636=)
c.*986C>A (n.*986C>A)
c.1669C>A (p.Arg557=)
c.1930C>A (p.Arg644=)
c.2029C>A (p.Arg677=)
n.4215C>A
n.1458C>A
c.136C>A (p.Arg46=)
n.482C>A
c.*831C>A (n.*831C>A)
c.1912C>A (p.Arg638=)
c.2035C>A (p.Arg679=)
c.1768C>A (p.Arg590=)
c.1762C>A (p.Arg588=)
c.1645C>A (p.Arg549=)
c.2023C>A (p.Arg675=)
c.1756C>A (p.Arg586=)
c.964C>A (p.Arg322=)
n.2209C>A
dbSNP ExAC gnomAD v2 gnomAD v4
8g.38414821T>ACA460395819FGFR1c.1935A>T (p.Ala645=)
c.1923A>T (p.Ala641=)
n.2828A>T
n.757A>T
n.625A>T
c.2115A>T (p.Ala705=)
n.2623A>T
c.1656A>T (p.Ala552=)
c.*1581A>T (n.*1581A>T)
c.*1902A>T (n.*1902A>T)
n.3429A>T
c.1662A>T (p.Ala554=)
c.1905A>T (p.Ala635=)
c.*985A>T (n.*985A>T)
c.1668A>T (p.Ala556=)
c.1929A>T (p.Ala643=)
c.2028A>T (p.Ala676=)
n.4214A>T
n.1457A>T
c.135A>T (p.Ala45=)
n.481A>T
c.*830A>T (n.*830A>T)
c.1911A>T (p.Ala637=)
c.2034A>T (p.Ala678=)
c.1767A>T (p.Ala589=)
c.1761A>T (p.Ala587=)
c.1644A>T (p.Ala548=)
c.2022A>T (p.Ala674=)
c.1755A>T (p.Ala585=)
c.963A>T (p.Ala321=)
n.2208A>T
dbSNP
8g.38414821T>CCA460395820FGFR1c.1935A>G (p.Ala645=)
c.1923A>G (p.Ala641=)
n.2828A>G
n.757A>G
n.625A>G
c.2115A>G (p.Ala705=)
n.2623A>G
c.1656A>G (p.Ala552=)
c.*1581A>G (n.*1581A>G)
c.*1902A>G (n.*1902A>G)
n.3429A>G
c.1662A>G (p.Ala554=)
c.1905A>G (p.Ala635=)
c.*985A>G (n.*985A>G)
c.1668A>G (p.Ala556=)
c.1929A>G (p.Ala643=)
c.2028A>G (p.Ala676=)
n.4214A>G
n.1457A>G
c.135A>G (p.Ala45=)
n.481A>G
c.*830A>G (n.*830A>G)
c.1911A>G (p.Ala637=)
c.2034A>G (p.Ala678=)
c.1767A>G (p.Ala589=)
c.1761A>G (p.Ala587=)
c.1644A>G (p.Ala548=)
c.2022A>G (p.Ala674=)
c.1755A>G (p.Ala585=)
c.963A>G (p.Ala321=)
n.2208A>G
dbSNP gnomAD v4
8g.38414821T>GCA460395822FGFR1c.1935A>C (p.Ala645=)
c.1923A>C (p.Ala641=)
n.2828A>C
n.757A>C
n.625A>C
c.2115A>C (p.Ala705=)
n.2623A>C
c.1656A>C (p.Ala552=)
c.*1581A>C (n.*1581A>C)
c.*1902A>C (n.*1902A>C)
n.3429A>C
c.1662A>C (p.Ala554=)
c.1905A>C (p.Ala635=)
c.*985A>C (n.*985A>C)
c.1668A>C (p.Ala556=)
c.1929A>C (p.Ala643=)
c.2028A>C (p.Ala676=)
n.4214A>C
n.1457A>C
c.135A>C (p.Ala45=)
n.481A>C
c.*830A>C (n.*830A>C)
c.1911A>C (p.Ala637=)
c.2034A>C (p.Ala678=)
c.1767A>C (p.Ala589=)
c.1761A>C (p.Ala587=)
c.1644A>C (p.Ala548=)
c.2022A>C (p.Ala674=)
c.1755A>C (p.Ala585=)
c.963A>C (p.Ala321=)
n.2208A>C
dbSNP
8g.38414822G>ACA370730255FGFR1c.1934C>T (p.Ala645Val)
c.1922C>T (p.Ala641Val)
n.2827C>T
n.756C>T
n.624C>T
c.2114C>T (p.Ala705Val)
n.2622C>T
c.1655C>T (p.Ala552Val)
c.*1580C>T (n.*1580C>T)
c.*1901C>T (n.*1901C>T)
n.3428C>T
c.1661C>T (p.Ala554Val)
c.1904C>T (p.Ala635Val)
c.*984C>T (n.*984C>T)
c.1667C>T (p.Ala556Val)
c.1928C>T (p.Ala643Val)
c.2027C>T (p.Ala676Val)
n.4213C>T
n.1456C>T
c.134C>T (p.Ala45Val)
n.480C>T
c.*829C>T (n.*829C>T)
c.1910C>T (p.Ala637Val)
c.2033C>T (p.Ala678Val)
c.1766C>T (p.Ala589Val)
c.1760C>T (p.Ala587Val)
c.1643C>T (p.Ala548Val)
c.2021C>T (p.Ala674Val)
c.1754C>T (p.Ala585Val)
c.962C>T (p.Ala321Val)
n.2207C>T
ClinVar dbSNP
8g.38414822G>CCA370730256FGFR1c.1934C>G (p.Ala645Gly)
c.1922C>G (p.Ala641Gly)
n.2827C>G
n.756C>G
n.624C>G
c.2114C>G (p.Ala705Gly)
n.2622C>G
c.1655C>G (p.Ala552Gly)
c.*1580C>G (n.*1580C>G)
c.*1901C>G (n.*1901C>G)
n.3428C>G
c.1661C>G (p.Ala554Gly)
c.1904C>G (p.Ala635Gly)
c.*984C>G (n.*984C>G)
c.1667C>G (p.Ala556Gly)
c.1928C>G (p.Ala643Gly)
c.2027C>G (p.Ala676Gly)
n.4213C>G
n.1456C>G
c.134C>G (p.Ala45Gly)
n.480C>G
c.*829C>G (n.*829C>G)
c.1910C>G (p.Ala637Gly)
c.2033C>G (p.Ala678Gly)
c.1766C>G (p.Ala589Gly)
c.1760C>G (p.Ala587Gly)
c.1643C>G (p.Ala548Gly)
c.2021C>G (p.Ala674Gly)
c.1754C>G (p.Ala585Gly)
c.962C>G (p.Ala321Gly)
n.2207C>G
dbSNP
8g.38414822G=CA1777534772FGFR1c.1934C= (p.Ala645=)
c.1922C= (p.Ala641=)
n.2827C=
n.756C=
n.624C=
c.2114C= (p.Ala705=)
n.2622C=
c.1655C= (p.Ala552=)
c.*1580C= (n.*1580C=)
c.*1901C= (n.*1901C=)
n.3428C=
c.1661C= (p.Ala554=)
c.1904C= (p.Ala635=)
c.*984C= (n.*984C=)
c.1667C= (p.Ala556=)
c.1928C= (p.Ala643=)
c.2027C= (p.Ala676=)
n.4213C=
n.1456C=
c.134C= (p.Ala45=)
n.480C=
c.*829C= (n.*829C=)
c.1910C= (p.Ala637=)
c.2033C= (p.Ala678=)
c.1766C= (p.Ala589=)
c.1760C= (p.Ala587=)
c.1643C= (p.Ala548=)
c.2021C= (p.Ala674=)
c.1754C= (p.Ala585=)
c.962C= (p.Ala321=)
n.2207C=
8g.38414822G>TCA370730259FGFR1c.1934C>A (p.Ala645Glu)
c.1922C>A (p.Ala641Glu)
n.2827C>A
n.756C>A
n.624C>A
c.2114C>A (p.Ala705Glu)
n.2622C>A
c.1655C>A (p.Ala552Glu)
c.*1580C>A (n.*1580C>A)
c.*1901C>A (n.*1901C>A)
n.3428C>A
c.1661C>A (p.Ala554Glu)
c.1904C>A (p.Ala635Glu)
c.*984C>A (n.*984C>A)
c.1667C>A (p.Ala556Glu)
c.1928C>A (p.Ala643Glu)
c.2027C>A (p.Ala676Glu)
n.4213C>A
n.1456C>A
c.134C>A (p.Ala45Glu)
n.480C>A
c.*829C>A (n.*829C>A)
c.1910C>A (p.Ala637Glu)
c.2033C>A (p.Ala678Glu)
c.1766C>A (p.Ala589Glu)
c.1760C>A (p.Ala587Glu)
c.1643C>A (p.Ala548Glu)
c.2021C>A (p.Ala674Glu)
c.1754C>A (p.Ala585Glu)
c.962C>A (p.Ala321Glu)
n.2207C>A
dbSNP
8g.38414823C>ACA370730261FGFR1c.1933G>T (p.Ala645Ser)
c.1921G>T (p.Ala641Ser)
n.2826G>T
n.755G>T
n.623G>T
c.2113G>T (p.Ala705Ser)
n.2621G>T
c.1654G>T (p.Ala552Ser)
c.*1579G>T (n.*1579G>T)
c.*1900G>T (n.*1900G>T)
n.3427G>T
c.1660G>T (p.Ala554Ser)
c.1903G>T (p.Ala635Ser)
c.*983G>T (n.*983G>T)
c.1666G>T (p.Ala556Ser)
c.1927G>T (p.Ala643Ser)
c.2026G>T (p.Ala676Ser)
n.4212G>T
n.1455G>T
c.133G>T (p.Ala45Ser)
n.479G>T
c.*828G>T (n.*828G>T)
c.1909G>T (p.Ala637Ser)
c.2032G>T (p.Ala678Ser)
c.1765G>T (p.Ala589Ser)
c.1759G>T (p.Ala587Ser)
c.1642G>T (p.Ala548Ser)
c.2020G>T (p.Ala674Ser)
c.1753G>T (p.Ala585Ser)
c.961G>T (p.Ala321Ser)
n.2206G>T
dbSNP
8g.38414823C=CA1777534774FGFR1c.1933G= (p.Ala645=)
c.1921G= (p.Ala641=)
n.2826G=
n.755G=
n.623G=
c.2113G= (p.Ala705=)
n.2621G=
c.1654G= (p.Ala552=)
c.*1579G= (n.*1579G=)
c.*1900G= (n.*1900G=)
n.3427G=
c.1660G= (p.Ala554=)
c.1903G= (p.Ala635=)
c.*983G= (n.*983G=)
c.1666G= (p.Ala556=)
c.1927G= (p.Ala643=)
c.2026G= (p.Ala676=)
n.4212G=
n.1455G=
c.133G= (p.Ala45=)
n.479G=
c.*828G= (n.*828G=)
c.1909G= (p.Ala637=)
c.2032G= (p.Ala678=)
c.1765G= (p.Ala589=)
c.1759G= (p.Ala587=)
c.1642G= (p.Ala548=)
c.2020G= (p.Ala674=)
c.1753G= (p.Ala585=)
c.961G= (p.Ala321=)
n.2206G=
8g.38414823C>GCA370730266FGFR1c.1933G>C (p.Ala645Pro)
c.1921G>C (p.Ala641Pro)
n.2826G>C
n.755G>C
n.623G>C
c.2113G>C (p.Ala705Pro)
n.2621G>C
c.1654G>C (p.Ala552Pro)
c.*1579G>C (n.*1579G>C)
c.*1900G>C (n.*1900G>C)
n.3427G>C
c.1660G>C (p.Ala554Pro)
c.1903G>C (p.Ala635Pro)
c.*983G>C (n.*983G>C)
c.1666G>C (p.Ala556Pro)
c.1927G>C (p.Ala643Pro)
c.2026G>C (p.Ala676Pro)
n.4212G>C
n.1455G>C
c.133G>C (p.Ala45Pro)
n.479G>C
c.*828G>C (n.*828G>C)
c.1909G>C (p.Ala637Pro)
c.2032G>C (p.Ala678Pro)
c.1765G>C (p.Ala589Pro)
c.1759G>C (p.Ala587Pro)
c.1642G>C (p.Ala548Pro)
c.2020G>C (p.Ala674Pro)
c.1753G>C (p.Ala585Pro)
c.961G>C (p.Ala321Pro)
n.2206G>C
dbSNP
8g.38414823C>TCA370730263FGFR1c.1933G>A (p.Ala645Thr)
c.1921G>A (p.Ala641Thr)
n.2826G>A
n.755G>A
n.623G>A
c.2113G>A (p.Ala705Thr)
n.2621G>A
c.1654G>A (p.Ala552Thr)
c.*1579G>A (n.*1579G>A)
c.*1900G>A (n.*1900G>A)
n.3427G>A
c.1660G>A (p.Ala554Thr)
c.1903G>A (p.Ala635Thr)
c.*983G>A (n.*983G>A)
c.1666G>A (p.Ala556Thr)
c.1927G>A (p.Ala643Thr)
c.2026G>A (p.Ala676Thr)
n.4212G>A
n.1455G>A
c.133G>A (p.Ala45Thr)
n.479G>A
c.*828G>A (n.*828G>A)
c.1909G>A (p.Ala637Thr)
c.2032G>A (p.Ala678Thr)
c.1765G>A (p.Ala589Thr)
c.1759G>A (p.Ala587Thr)
c.1642G>A (p.Ala548Thr)
c.2020G>A (p.Ala674Thr)
c.1753G>A (p.Ala585Thr)
c.961G>A (p.Ala321Thr)
n.2206G>A
dbSNP gnomAD v4
8g.38414824G>ACA4718234FGFR1c.1932C>T (p.Leu644=)
c.1920C>T (p.Leu640=)
n.2825C>T
n.754C>T
n.622C>T
c.2112C>T (p.Leu704=)
n.2620C>T
c.1653C>T (p.Leu551=)
c.*1578C>T (n.*1578C>T)
c.*1899C>T (n.*1899C>T)
n.3426C>T
c.1659C>T (p.Leu553=)
c.1902C>T (p.Leu634=)
c.*982C>T (n.*982C>T)
c.1665C>T (p.Leu555=)
c.1926C>T (p.Leu642=)
c.2025C>T (p.Leu675=)
n.4211C>T
n.1454C>T
c.132C>T (p.Leu44=)
n.478C>T
c.*827C>T (n.*827C>T)
c.1908C>T (p.Leu636=)
c.2031C>T (p.Leu677=)
c.1764C>T (p.Leu588=)
c.1758C>T (p.Leu586=)
c.1641C>T (p.Leu547=)
c.2019C>T (p.Leu673=)
c.1752C>T (p.Leu584=)
c.960C>T (p.Leu320=)
n.2205C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
8g.38414824G>CCA460395825FGFR1c.1932C>G (p.Leu644=)
c.1920C>G (p.Leu640=)
n.2825C>G
n.754C>G
n.622C>G
c.2112C>G (p.Leu704=)
n.2620C>G
c.1653C>G (p.Leu551=)
c.*1578C>G (n.*1578C>G)
c.*1899C>G (n.*1899C>G)
n.3426C>G
c.1659C>G (p.Leu553=)
c.1902C>G (p.Leu634=)
c.*982C>G (n.*982C>G)
c.1665C>G (p.Leu555=)
c.1926C>G (p.Leu642=)
c.2025C>G (p.Leu675=)
n.4211C>G
n.1454C>G
c.132C>G (p.Leu44=)
n.478C>G
c.*827C>G (n.*827C>G)
c.1908C>G (p.Leu636=)
c.2031C>G (p.Leu677=)
c.1764C>G (p.Leu588=)
c.1758C>G (p.Leu586=)
c.1641C>G (p.Leu547=)
c.2019C>G (p.Leu673=)
c.1752C>G (p.Leu584=)
c.960C>G (p.Leu320=)
n.2205C>G
dbSNP gnomAD v4
8g.38414824G=CA1777534776FGFR1c.1932C= (p.Leu644=)
c.1920C= (p.Leu640=)
n.2825C=
n.754C=
n.622C=
c.2112C= (p.Leu704=)
n.2620C=
c.1653C= (p.Leu551=)
c.*1578C= (n.*1578C=)
c.*1899C= (n.*1899C=)
n.3426C=
c.1659C= (p.Leu553=)
c.1902C= (p.Leu634=)
c.*982C= (n.*982C=)
c.1665C= (p.Leu555=)
c.1926C= (p.Leu642=)
c.2025C= (p.Leu675=)
n.4211C=
n.1454C=
c.132C= (p.Leu44=)
n.478C=
c.*827C= (n.*827C=)
c.1908C= (p.Leu636=)
c.2031C= (p.Leu677=)
c.1764C= (p.Leu588=)
c.1758C= (p.Leu586=)
c.1641C= (p.Leu547=)
c.2019C= (p.Leu673=)
c.1752C= (p.Leu584=)
c.960C= (p.Leu320=)
n.2205C=
8g.38414824G>TCA460395824FGFR1c.1932C>A (p.Leu644=)
c.1920C>A (p.Leu640=)
n.2825C>A
n.754C>A
n.622C>A
c.2112C>A (p.Leu704=)
n.2620C>A
c.1653C>A (p.Leu551=)
c.*1578C>A (n.*1578C>A)
c.*1899C>A (n.*1899C>A)
n.3426C>A
c.1659C>A (p.Leu553=)
c.1902C>A (p.Leu634=)
c.*982C>A (n.*982C>A)
c.1665C>A (p.Leu555=)
c.1926C>A (p.Leu642=)
c.2025C>A (p.Leu675=)
n.4211C>A
n.1454C>A
c.132C>A (p.Leu44=)
n.478C>A
c.*827C>A (n.*827C>A)
c.1908C>A (p.Leu636=)
c.2031C>A (p.Leu677=)
c.1764C>A (p.Leu588=)
c.1758C>A (p.Leu586=)
c.1641C>A (p.Leu547=)
c.2019C>A (p.Leu673=)
c.1752C>A (p.Leu584=)
c.960C>A (p.Leu320=)
n.2205C>A
8g.38414825A>CCA370730270FGFR1c.1931T>G (p.Leu644Arg)
c.1919T>G (p.Leu640Arg)
n.2824T>G
n.753T>G
n.621T>G
c.2111T>G (p.Leu704Arg)
n.2619T>G
c.1652T>G (p.Leu551Arg)
c.*1577T>G (n.*1577T>G)
c.*1898T>G (n.*1898T>G)
n.3425T>G
c.1658T>G (p.Leu553Arg)
c.1901T>G (p.Leu634Arg)
c.*981T>G (n.*981T>G)
c.1664T>G (p.Leu555Arg)
c.1925T>G (p.Leu642Arg)
c.2024T>G (p.Leu675Arg)
n.4210T>G
n.1453T>G
c.131T>G (p.Leu44Arg)
n.477T>G
c.*826T>G (n.*826T>G)
c.1907T>G (p.Leu636Arg)
c.2030T>G (p.Leu677Arg)
c.1763T>G (p.Leu588Arg)
c.1757T>G (p.Leu586Arg)
c.1640T>G (p.Leu547Arg)
c.2018T>G (p.Leu673Arg)
c.1751T>G (p.Leu584Arg)
c.959T>G (p.Leu320Arg)
n.2204T>G
ClinVar
8g.38414825A>GCA370730272FGFR1c.1931T>C (p.Leu644Pro)
c.1919T>C (p.Leu640Pro)
n.2824T>C
n.753T>C
n.621T>C
c.2111T>C (p.Leu704Pro)
n.2619T>C
c.1652T>C (p.Leu551Pro)
c.*1577T>C (n.*1577T>C)
c.*1898T>C (n.*1898T>C)
n.3425T>C
c.1658T>C (p.Leu553Pro)
c.1901T>C (p.Leu634Pro)
c.*981T>C (n.*981T>C)
c.1664T>C (p.Leu555Pro)
c.1925T>C (p.Leu642Pro)
c.2024T>C (p.Leu675Pro)
n.4210T>C
n.1453T>C
c.131T>C (p.Leu44Pro)
n.477T>C
c.*826T>C (n.*826T>C)
c.1907T>C (p.Leu636Pro)
c.2030T>C (p.Leu677Pro)
c.1763T>C (p.Leu588Pro)
c.1757T>C (p.Leu586Pro)
c.1640T>C (p.Leu547Pro)
c.2018T>C (p.Leu673Pro)
c.1751T>C (p.Leu584Pro)
c.959T>C (p.Leu320Pro)
n.2204T>C
dbSNP
8g.38414825A>TCA370730274FGFR1c.1931T>A (p.Leu644His)
c.1919T>A (p.Leu640His)
n.2824T>A
n.753T>A
n.621T>A
c.2111T>A (p.Leu704His)
n.2619T>A
c.1652T>A (p.Leu551His)
c.*1577T>A (n.*1577T>A)
c.*1898T>A (n.*1898T>A)
n.3425T>A
c.1658T>A (p.Leu553His)
c.1901T>A (p.Leu634His)
c.*981T>A (n.*981T>A)
c.1664T>A (p.Leu555His)
c.1925T>A (p.Leu642His)
c.2024T>A (p.Leu675His)
n.4210T>A
n.1453T>A
c.131T>A (p.Leu44His)
n.477T>A
c.*826T>A (n.*826T>A)
c.1907T>A (p.Leu636His)
c.2030T>A (p.Leu677His)
c.1763T>A (p.Leu588His)
c.1757T>A (p.Leu586His)
c.1640T>A (p.Leu547His)
c.2018T>A (p.Leu673His)
c.1751T>A (p.Leu584His)
c.959T>A (p.Leu320His)
n.2204T>A
dbSNP
8g.38414826G>ACA370730281FGFR1c.1930C>T (p.Leu644Phe)
c.1918C>T (p.Leu640Phe)
n.2823C>T
n.752C>T
n.620C>T
c.2110C>T (p.Leu704Phe)
n.2618C>T
c.1651C>T (p.Leu551Phe)
c.*1576C>T (n.*1576C>T)
c.*1897C>T (n.*1897C>T)
n.3424C>T
c.1657C>T (p.Leu553Phe)
c.1900C>T (p.Leu634Phe)
c.*980C>T (n.*980C>T)
c.1663C>T (p.Leu555Phe)
c.1924C>T (p.Leu642Phe)
c.2023C>T (p.Leu675Phe)
n.4209C>T
n.1452C>T
c.130C>T (p.Leu44Phe)
n.476C>T
c.*825C>T (n.*825C>T)
c.1906C>T (p.Leu636Phe)
c.2029C>T (p.Leu677Phe)
c.1762C>T (p.Leu588Phe)
c.1756C>T (p.Leu586Phe)
c.1639C>T (p.Leu547Phe)
c.2017C>T (p.Leu673Phe)
c.1750C>T (p.Leu584Phe)
c.958C>T (p.Leu320Phe)
n.2203C>T
dbSNP gnomAD v4
8g.38414826G>CCA370730278FGFR1c.1930C>G (p.Leu644Val)
c.1918C>G (p.Leu640Val)
n.2823C>G
n.752C>G
n.620C>G
c.2110C>G (p.Leu704Val)
n.2618C>G
c.1651C>G (p.Leu551Val)
c.*1576C>G (n.*1576C>G)
c.*1897C>G (n.*1897C>G)
n.3424C>G
c.1657C>G (p.Leu553Val)
c.1900C>G (p.Leu634Val)
c.*980C>G (n.*980C>G)
c.1663C>G (p.Leu555Val)
c.1924C>G (p.Leu642Val)
c.2023C>G (p.Leu675Val)
n.4209C>G
n.1452C>G
c.130C>G (p.Leu44Val)
n.476C>G
c.*825C>G (n.*825C>G)
c.1906C>G (p.Leu636Val)
c.2029C>G (p.Leu677Val)
c.1762C>G (p.Leu588Val)
c.1756C>G (p.Leu586Val)
c.1639C>G (p.Leu547Val)
c.2017C>G (p.Leu673Val)
c.1750C>G (p.Leu584Val)
c.958C>G (p.Leu320Val)
n.2203C>G
8g.38414826G>TCA370730276FGFR1c.1930C>A (p.Leu644Ile)
c.1918C>A (p.Leu640Ile)
n.2823C>A
n.752C>A
n.620C>A
c.2110C>A (p.Leu704Ile)
n.2618C>A
c.1651C>A (p.Leu551Ile)
c.*1576C>A (n.*1576C>A)
c.*1897C>A (n.*1897C>A)
n.3424C>A
c.1657C>A (p.Leu553Ile)
c.1900C>A (p.Leu634Ile)
c.*980C>A (n.*980C>A)
c.1663C>A (p.Leu555Ile)
c.1924C>A (p.Leu642Ile)
c.2023C>A (p.Leu675Ile)
n.4209C>A
n.1452C>A
c.130C>A (p.Leu44Ile)
n.476C>A
c.*825C>A (n.*825C>A)
c.1906C>A (p.Leu636Ile)
c.2029C>A (p.Leu677Ile)
c.1762C>A (p.Leu588Ile)
c.1756C>A (p.Leu586Ile)
c.1639C>A (p.Leu547Ile)
c.2017C>A (p.Leu673Ile)
c.1750C>A (p.Leu584Ile)
c.958C>A (p.Leu320Ile)
n.2203C>A
8g.38414827G>ACA460395828FGFR1c.1929C>T (p.Gly643=)
c.1917C>T (p.Gly639=)
n.2822C>T
n.751C>T
n.619C>T
c.2109C>T (p.Gly703=)
n.2617C>T
c.1650C>T (p.Gly550=)
c.*1575C>T (n.*1575C>T)
c.*1896C>T (n.*1896C>T)
n.3423C>T
c.1656C>T (p.Gly552=)
c.1899C>T (p.Gly633=)
c.*979C>T (n.*979C>T)
c.1662C>T (p.Gly554=)
c.1923C>T (p.Gly641=)
c.2022C>T (p.Gly674=)
n.4208C>T
n.1451C>T
c.129C>T (p.Gly43=)
n.475C>T
c.*824C>T (n.*824C>T)
c.1905C>T (p.Gly635=)
c.2028C>T (p.Gly676=)
c.1761C>T (p.Gly587=)
c.1755C>T (p.Gly585=)
c.1638C>T (p.Gly546=)
c.2016C>T (p.Gly672=)
c.1749C>T (p.Gly583=)
c.957C>T (p.Gly319=)
n.2202C>T
8g.38414827G>CCA460395829FGFR1c.1929C>G (p.Gly643=)
c.1917C>G (p.Gly639=)
n.2822C>G
n.751C>G
n.619C>G
c.2109C>G (p.Gly703=)
n.2617C>G
c.1650C>G (p.Gly550=)
c.*1575C>G (n.*1575C>G)
c.*1896C>G (n.*1896C>G)
n.3423C>G
c.1656C>G (p.Gly552=)
c.1899C>G (p.Gly633=)
c.*979C>G (n.*979C>G)
c.1662C>G (p.Gly554=)
c.1923C>G (p.Gly641=)
c.2022C>G (p.Gly674=)
n.4208C>G
n.1451C>G
c.129C>G (p.Gly43=)
n.475C>G
c.*824C>G (n.*824C>G)
c.1905C>G (p.Gly635=)
c.2028C>G (p.Gly676=)
c.1761C>G (p.Gly587=)
c.1755C>G (p.Gly585=)
c.1638C>G (p.Gly546=)
c.2016C>G (p.Gly672=)
c.1749C>G (p.Gly583=)
c.957C>G (p.Gly319=)
n.2202C>G
8g.38414827G>TCA460395830FGFR1c.1929C>A (p.Gly643=)
c.1917C>A (p.Gly639=)
n.2822C>A
n.751C>A
n.619C>A
c.2109C>A (p.Gly703=)
n.2617C>A
c.1650C>A (p.Gly550=)
c.*1575C>A (n.*1575C>A)
c.*1896C>A (n.*1896C>A)
n.3423C>A
c.1656C>A (p.Gly552=)
c.1899C>A (p.Gly633=)
c.*979C>A (n.*979C>A)
c.1662C>A (p.Gly554=)
c.1923C>A (p.Gly641=)
c.2022C>A (p.Gly674=)
n.4208C>A
n.1451C>A
c.129C>A (p.Gly43=)
n.475C>A
c.*824C>A (n.*824C>A)
c.1905C>A (p.Gly635=)
c.2028C>A (p.Gly676=)
c.1761C>A (p.Gly587=)
c.1755C>A (p.Gly585=)
c.1638C>A (p.Gly546=)
c.2016C>A (p.Gly672=)
c.1749C>A (p.Gly583=)
c.957C>A (p.Gly319=)
n.2202C>A
8g.38414828C>ACA370730283FGFR1c.1928G>T (p.Gly643Val)
c.1916G>T (p.Gly639Val)
n.2821G>T
n.750G>T
n.618G>T
c.2108G>T (p.Gly703Val)
n.2616G>T
c.1649G>T (p.Gly550Val)
c.*1574G>T (n.*1574G>T)
c.*1895G>T (n.*1895G>T)
n.3422G>T
c.1655G>T (p.Gly552Val)
c.1898G>T (p.Gly633Val)
c.*978G>T (n.*978G>T)
c.1661G>T (p.Gly554Val)
c.1922G>T (p.Gly641Val)
c.2021G>T (p.Gly674Val)
n.4207G>T
n.1450G>T
c.128G>T (p.Gly43Val)
n.474G>T
c.*823G>T (n.*823G>T)
c.1904G>T (p.Gly635Val)
c.2027G>T (p.Gly676Val)
c.1760G>T (p.Gly587Val)
c.1754G>T (p.Gly585Val)
c.1637G>T (p.Gly546Val)
c.2015G>T (p.Gly672Val)
c.1748G>T (p.Gly583Val)
c.956G>T (p.Gly319Val)
n.2201G>T
dbSNP
8g.38414828C=CA1777534778FGFR1c.1928G= (p.Gly643=)
c.1916G= (p.Gly639=)
n.2821G=
n.750G=
n.618G=
c.2108G= (p.Gly703=)
n.2616G=
c.1649G= (p.Gly550=)
c.*1574G= (n.*1574G=)
c.*1895G= (n.*1895G=)
n.3422G=
c.1655G= (p.Gly552=)
c.1898G= (p.Gly633=)
c.*978G= (n.*978G=)
c.1661G= (p.Gly554=)
c.1922G= (p.Gly641=)
c.2021G= (p.Gly674=)
n.4207G=
n.1450G=
c.128G= (p.Gly43=)
n.474G=
c.*823G= (n.*823G=)
c.1904G= (p.Gly635=)
c.2027G= (p.Gly676=)
c.1760G= (p.Gly587=)
c.1754G= (p.Gly585=)
c.1637G= (p.Gly546=)
c.2015G= (p.Gly672=)
c.1748G= (p.Gly583=)
c.956G= (p.Gly319=)
n.2201G=
8g.38414828C>GCA370730284FGFR1c.1928G>C (p.Gly643Ala)
c.1916G>C (p.Gly639Ala)
n.2821G>C
n.750G>C
n.618G>C
c.2108G>C (p.Gly703Ala)
n.2616G>C
c.1649G>C (p.Gly550Ala)
c.*1574G>C (n.*1574G>C)
c.*1895G>C (n.*1895G>C)
n.3422G>C
c.1655G>C (p.Gly552Ala)
c.1898G>C (p.Gly633Ala)
c.*978G>C (n.*978G>C)
c.1661G>C (p.Gly554Ala)
c.1922G>C (p.Gly641Ala)
c.2021G>C (p.Gly674Ala)
n.4207G>C
n.1450G>C
c.128G>C (p.Gly43Ala)
n.474G>C
c.*823G>C (n.*823G>C)
c.1904G>C (p.Gly635Ala)
c.2027G>C (p.Gly676Ala)
c.1760G>C (p.Gly587Ala)
c.1754G>C (p.Gly585Ala)
c.1637G>C (p.Gly546Ala)
c.2015G>C (p.Gly672Ala)
c.1748G>C (p.Gly583Ala)
c.956G>C (p.Gly319Ala)
n.2201G>C
dbSNP
8g.38414828C>TCA10581215FGFR1c.1928G>A (p.Gly643Asp)
c.1916G>A (p.Gly639Asp)
n.2821G>A
n.750G>A
n.618G>A
c.2108G>A (p.Gly703Asp)
n.2616G>A
c.1649G>A (p.Gly550Asp)
c.*1574G>A (n.*1574G>A)
c.*1895G>A (n.*1895G>A)
n.3422G>A
c.1655G>A (p.Gly552Asp)
c.1898G>A (p.Gly633Asp)
c.*978G>A (n.*978G>A)
c.1661G>A (p.Gly554Asp)
c.1922G>A (p.Gly641Asp)
c.2021G>A (p.Gly674Asp)
n.4207G>A
n.1450G>A
c.128G>A (p.Gly43Asp)
n.474G>A
c.*823G>A (n.*823G>A)
c.1904G>A (p.Gly635Asp)
c.2027G>A (p.Gly676Asp)
c.1760G>A (p.Gly587Asp)
c.1754G>A (p.Gly585Asp)
c.1637G>A (p.Gly546Asp)
c.2015G>A (p.Gly672Asp)
c.1748G>A (p.Gly583Asp)
c.956G>A (p.Gly319Asp)
n.2201G>A
ClinVar dbSNP
8g.38414829C>ACA370730285FGFR1c.1927G>T (p.Gly643Cys)
c.1915G>T (p.Gly639Cys)
n.2820G>T
n.749G>T
n.617G>T
c.2107G>T (p.Gly703Cys)
n.2615G>T
c.1648G>T (p.Gly550Cys)
c.*1573G>T (n.*1573G>T)
c.*1894G>T (n.*1894G>T)
n.3421G>T
c.1654G>T (p.Gly552Cys)
c.1897G>T (p.Gly633Cys)
c.*977G>T (n.*977G>T)
c.1660G>T (p.Gly554Cys)
c.1921G>T (p.Gly641Cys)
c.2020G>T (p.Gly674Cys)
n.4206G>T
n.1449G>T
c.127G>T (p.Gly43Cys)
n.473G>T
c.*822G>T (n.*822G>T)
c.1903G>T (p.Gly635Cys)
c.2026G>T (p.Gly676Cys)
c.1759G>T (p.Gly587Cys)
c.1753G>T (p.Gly585Cys)
c.1636G>T (p.Gly546Cys)
c.2014G>T (p.Gly672Cys)
c.1747G>T (p.Gly583Cys)
c.955G>T (p.Gly319Cys)
n.2200G>T
dbSNP
8g.38414829C>GCA370730286FGFR1c.1927G>C (p.Gly643Arg)
c.1915G>C (p.Gly639Arg)
n.2820G>C
n.749G>C
n.617G>C
c.2107G>C (p.Gly703Arg)
n.2615G>C
c.1648G>C (p.Gly550Arg)
c.*1573G>C (n.*1573G>C)
c.*1894G>C (n.*1894G>C)
n.3421G>C
c.1654G>C (p.Gly552Arg)
c.1897G>C (p.Gly633Arg)
c.*977G>C (n.*977G>C)
c.1660G>C (p.Gly554Arg)
c.1921G>C (p.Gly641Arg)
c.2020G>C (p.Gly674Arg)
n.4206G>C
n.1449G>C
c.127G>C (p.Gly43Arg)
n.473G>C
c.*822G>C (n.*822G>C)
c.1903G>C (p.Gly635Arg)
c.2026G>C (p.Gly676Arg)
c.1759G>C (p.Gly587Arg)
c.1753G>C (p.Gly585Arg)
c.1636G>C (p.Gly546Arg)
c.2014G>C (p.Gly672Arg)
c.1747G>C (p.Gly583Arg)
c.955G>C (p.Gly319Arg)
n.2200G>C
8g.38414829C>TCA370730287FGFR1c.1927G>A (p.Gly643Ser)
c.1915G>A (p.Gly639Ser)
n.2820G>A
n.749G>A
n.617G>A
c.2107G>A (p.Gly703Ser)
n.2615G>A
c.1648G>A (p.Gly550Ser)
c.*1573G>A (n.*1573G>A)
c.*1894G>A (n.*1894G>A)
n.3421G>A
c.1654G>A (p.Gly552Ser)
c.1897G>A (p.Gly633Ser)
c.*977G>A (n.*977G>A)
c.1660G>A (p.Gly554Ser)
c.1921G>A (p.Gly641Ser)
c.2020G>A (p.Gly674Ser)
n.4206G>A
n.1449G>A
c.127G>A (p.Gly43Ser)
n.473G>A
c.*822G>A (n.*822G>A)
c.1903G>A (p.Gly635Ser)
c.2026G>A (p.Gly676Ser)
c.1759G>A (p.Gly587Ser)
c.1753G>A (p.Gly585Ser)
c.1636G>A (p.Gly546Ser)
c.2014G>A (p.Gly672Ser)
c.1747G>A (p.Gly583Ser)
c.955G>A (p.Gly319Ser)
n.2200G>A
dbSNP
8g.38414830A=CA1777534780FGFR1c.1926T= (p.Phe642=)
c.1914T= (p.Phe638=)
n.2819T=
n.748T=
n.616T=
c.2106T= (p.Phe702=)
n.2614T=
c.1647T= (p.Phe549=)
c.*1572T= (n.*1572T=)
c.*1893T= (n.*1893T=)
n.3420T=
c.1653T= (p.Phe551=)
c.1896T= (p.Phe632=)
c.*976T= (n.*976T=)
c.1659T= (p.Phe553=)
c.1920T= (p.Phe640=)
c.2019T= (p.Phe673=)
n.4205T=
n.1448T=
c.126T= (p.Phe42=)
n.472T=
c.*821T= (n.*821T=)
c.1902T= (p.Phe634=)
c.2025T= (p.Phe675=)
c.1758T= (p.Phe586=)
c.1752T= (p.Phe584=)
c.1635T= (p.Phe545=)
c.2013T= (p.Phe671=)
c.1746T= (p.Phe582=)
c.954T= (p.Phe318=)
n.2199T=
8g.38414830A>CCA370730288FGFR1c.1926T>G (p.Phe642Leu)
c.1914T>G (p.Phe638Leu)
n.2819T>G
n.748T>G
n.616T>G
c.2106T>G (p.Phe702Leu)
n.2614T>G
c.1647T>G (p.Phe549Leu)
c.*1572T>G (n.*1572T>G)
c.*1893T>G (n.*1893T>G)
n.3420T>G
c.1653T>G (p.Phe551Leu)
c.1896T>G (p.Phe632Leu)
c.*976T>G (n.*976T>G)
c.1659T>G (p.Phe553Leu)
c.1920T>G (p.Phe640Leu)
c.2019T>G (p.Phe673Leu)
n.4205T>G
n.1448T>G
c.126T>G (p.Phe42Leu)
n.472T>G
c.*821T>G (n.*821T>G)
c.1902T>G (p.Phe634Leu)
c.2025T>G (p.Phe675Leu)
c.1758T>G (p.Phe586Leu)
c.1752T>G (p.Phe584Leu)
c.1635T>G (p.Phe545Leu)
c.2013T>G (p.Phe671Leu)
c.1746T>G (p.Phe582Leu)
c.954T>G (p.Phe318Leu)
n.2199T>G
8g.38414830A>GCA460395833FGFR1c.1926T>C (p.Phe642=)
c.1914T>C (p.Phe638=)
n.2819T>C
n.748T>C
n.616T>C
c.2106T>C (p.Phe702=)
n.2614T>C
c.1647T>C (p.Phe549=)
c.*1572T>C (n.*1572T>C)
c.*1893T>C (n.*1893T>C)
n.3420T>C
c.1653T>C (p.Phe551=)
c.1896T>C (p.Phe632=)
c.*976T>C (n.*976T>C)
c.1659T>C (p.Phe553=)
c.1920T>C (p.Phe640=)
c.2019T>C (p.Phe673=)
n.4205T>C
n.1448T>C
c.126T>C (p.Phe42=)
n.472T>C
c.*821T>C (n.*821T>C)
c.1902T>C (p.Phe634=)
c.2025T>C (p.Phe675=)
c.1758T>C (p.Phe586=)
c.1752T>C (p.Phe584=)
c.1635T>C (p.Phe545=)
c.2013T>C (p.Phe671=)
c.1746T>C (p.Phe582=)
c.954T>C (p.Phe318=)
n.2199T>C
dbSNP gnomAD v4
8g.38414830A>TCA370730289FGFR1c.1926T>A (p.Phe642Leu)
c.1914T>A (p.Phe638Leu)
n.2819T>A
n.748T>A
n.616T>A
c.2106T>A (p.Phe702Leu)
n.2614T>A
c.1647T>A (p.Phe549Leu)
c.*1572T>A (n.*1572T>A)
c.*1893T>A (n.*1893T>A)
n.3420T>A
c.1653T>A (p.Phe551Leu)
c.1896T>A (p.Phe632Leu)
c.*976T>A (n.*976T>A)
c.1659T>A (p.Phe553Leu)
c.1920T>A (p.Phe640Leu)
c.2019T>A (p.Phe673Leu)
n.4205T>A
n.1448T>A
c.126T>A (p.Phe42Leu)
n.472T>A
c.*821T>A (n.*821T>A)
c.1902T>A (p.Phe634Leu)
c.2025T>A (p.Phe675Leu)
c.1758T>A (p.Phe586Leu)
c.1752T>A (p.Phe584Leu)
c.1635T>A (p.Phe545Leu)
c.2013T>A (p.Phe671Leu)
c.1746T>A (p.Phe582Leu)
c.954T>A (p.Phe318Leu)
n.2199T>A
dbSNP
8g.38414832delCA2686966418FGFR1c.1926del (p.Phe642LeufsTer23)
c.1914del (p.Phe638LeufsTer23)
n.2819del
n.748del
n.616del
c.2106del (p.Phe702LeufsTer23)
n.2614del
c.1647del (p.Phe549LeufsTer23)
c.*1572del (n.*1572del)
c.*1893del (n.*1893del)
n.3420del
c.1653del (p.Phe551LeufsTer23)
c.1896del (p.Phe632LeufsTer23)
c.*976del (n.*976del)
c.1659del (p.Phe553LeufsTer23)
c.1920del (p.Phe640LeufsTer23)
c.2019del (p.Phe673LeufsTer23)
n.4205del
n.1448del
c.126del (p.Phe42LeufsTer23)
n.472del
c.*821del (n.*821del)
c.1902del (p.Phe634LeufsTer23)
c.2025del (p.Phe675LeufsTer23)
c.1758del (p.Phe586LeufsTer23)
c.1752del (p.Phe584LeufsTer23)
c.1635del (p.Phe545LeufsTer23)
c.2013del (p.Phe671LeufsTer23)
c.1746del (p.Phe582LeufsTer23)
c.954del (p.Phe318LeufsTer23)
n.2199del
gnomAD v4
8g.38414831A>CCA370730290FGFR1c.1925T>G (p.Phe642Cys)
c.1913T>G (p.Phe638Cys)
n.2818T>G
n.747T>G
n.615T>G
c.2105T>G (p.Phe702Cys)
n.2613T>G
c.1646T>G (p.Phe549Cys)
c.*1571T>G (n.*1571T>G)
c.*1892T>G (n.*1892T>G)
n.3419T>G
c.1652T>G (p.Phe551Cys)
c.1895T>G (p.Phe632Cys)
c.*975T>G (n.*975T>G)
c.1658T>G (p.Phe553Cys)
c.1919T>G (p.Phe640Cys)
c.2018T>G (p.Phe673Cys)
n.4204T>G
n.1447T>G
c.125T>G (p.Phe42Cys)
n.471T>G
c.*820T>G (n.*820T>G)
c.1901T>G (p.Phe634Cys)
c.2024T>G (p.Phe675Cys)
c.1757T>G (p.Phe586Cys)
c.1751T>G (p.Phe584Cys)
c.1634T>G (p.Phe545Cys)
c.2012T>G (p.Phe671Cys)
c.1745T>G (p.Phe582Cys)
c.953T>G (p.Phe318Cys)
n.2198T>G
dbSNP
8g.38414831A>GCA370730291FGFR1c.1925T>C (p.Phe642Ser)
c.1913T>C (p.Phe638Ser)
n.2818T>C
n.747T>C
n.615T>C
c.2105T>C (p.Phe702Ser)
n.2613T>C
c.1646T>C (p.Phe549Ser)
c.*1571T>C (n.*1571T>C)
c.*1892T>C (n.*1892T>C)
n.3419T>C
c.1652T>C (p.Phe551Ser)
c.1895T>C (p.Phe632Ser)
c.*975T>C (n.*975T>C)
c.1658T>C (p.Phe553Ser)
c.1919T>C (p.Phe640Ser)
c.2018T>C (p.Phe673Ser)
n.4204T>C
n.1447T>C
c.125T>C (p.Phe42Ser)
n.471T>C
c.*820T>C (n.*820T>C)
c.1901T>C (p.Phe634Ser)
c.2024T>C (p.Phe675Ser)
c.1757T>C (p.Phe586Ser)
c.1751T>C (p.Phe584Ser)
c.1634T>C (p.Phe545Ser)
c.2012T>C (p.Phe671Ser)
c.1745T>C (p.Phe582Ser)
c.953T>C (p.Phe318Ser)
n.2198T>C
8g.38414831A>TCA370730292FGFR1c.1925T>A (p.Phe642Tyr)
c.1913T>A (p.Phe638Tyr)
n.2818T>A
n.747T>A
n.615T>A
c.2105T>A (p.Phe702Tyr)
n.2613T>A
c.1646T>A (p.Phe549Tyr)
c.*1571T>A (n.*1571T>A)
c.*1892T>A (n.*1892T>A)
n.3419T>A
c.1652T>A (p.Phe551Tyr)
c.1895T>A (p.Phe632Tyr)
c.*975T>A (n.*975T>A)
c.1658T>A (p.Phe553Tyr)
c.1919T>A (p.Phe640Tyr)
c.2018T>A (p.Phe673Tyr)
n.4204T>A
n.1447T>A
c.125T>A (p.Phe42Tyr)
n.471T>A
c.*820T>A (n.*820T>A)
c.1901T>A (p.Phe634Tyr)
c.2024T>A (p.Phe675Tyr)
c.1757T>A (p.Phe586Tyr)
c.1751T>A (p.Phe584Tyr)
c.1634T>A (p.Phe545Tyr)
c.2012T>A (p.Phe671Tyr)
c.1745T>A (p.Phe582Tyr)
c.953T>A (p.Phe318Tyr)
n.2198T>A
8g.38414832A>CCA370730293FGFR1c.1924T>G (p.Phe642Val)
c.1912T>G (p.Phe638Val)
n.2817T>G
n.746T>G
n.614T>G
c.2104T>G (p.Phe702Val)
n.2612T>G
c.1645T>G (p.Phe549Val)
c.*1570T>G (n.*1570T>G)
c.*1891T>G (n.*1891T>G)
n.3418T>G
c.1651T>G (p.Phe551Val)
c.1894T>G (p.Phe632Val)
c.*974T>G (n.*974T>G)
c.1657T>G (p.Phe553Val)
c.1918T>G (p.Phe640Val)
c.2017T>G (p.Phe673Val)
n.4203T>G
n.1446T>G
c.124T>G (p.Phe42Val)
n.470T>G
c.*819T>G (n.*819T>G)
c.1900T>G (p.Phe634Val)
c.2023T>G (p.Phe675Val)
c.1756T>G (p.Phe586Val)
c.1750T>G (p.Phe584Val)
c.1633T>G (p.Phe545Val)
c.2011T>G (p.Phe671Val)
c.1744T>G (p.Phe582Val)
c.952T>G (p.Phe318Val)
n.2197T>G
dbSNP
8g.38414832A>GCA370730294FGFR1c.1924T>C (p.Phe642Leu)
c.1912T>C (p.Phe638Leu)
n.2817T>C
n.746T>C
n.614T>C
c.2104T>C (p.Phe702Leu)
n.2612T>C
c.1645T>C (p.Phe549Leu)
c.*1570T>C (n.*1570T>C)
c.*1891T>C (n.*1891T>C)
n.3418T>C
c.1651T>C (p.Phe551Leu)
c.1894T>C (p.Phe632Leu)
c.*974T>C (n.*974T>C)
c.1657T>C (p.Phe553Leu)
c.1918T>C (p.Phe640Leu)
c.2017T>C (p.Phe673Leu)
n.4203T>C
n.1446T>C
c.124T>C (p.Phe42Leu)
n.470T>C
c.*819T>C (n.*819T>C)
c.1900T>C (p.Phe634Leu)
c.2023T>C (p.Phe675Leu)
c.1756T>C (p.Phe586Leu)
c.1750T>C (p.Phe584Leu)
c.1633T>C (p.Phe545Leu)
c.2011T>C (p.Phe671Leu)
c.1744T>C (p.Phe582Leu)
c.952T>C (p.Phe318Leu)
n.2197T>C
8g.38414832A>TCA370730297FGFR1c.1924T>A (p.Phe642Ile)
c.1912T>A (p.Phe638Ile)
n.2817T>A
n.746T>A
n.614T>A
c.2104T>A (p.Phe702Ile)
n.2612T>A
c.1645T>A (p.Phe549Ile)
c.*1570T>A (n.*1570T>A)
c.*1891T>A (n.*1891T>A)
n.3418T>A
c.1651T>A (p.Phe551Ile)
c.1894T>A (p.Phe632Ile)
c.*974T>A (n.*974T>A)
c.1657T>A (p.Phe553Ile)
c.1918T>A (p.Phe640Ile)
c.2017T>A (p.Phe673Ile)
n.4203T>A
n.1446T>A
c.124T>A (p.Phe42Ile)
n.470T>A
c.*819T>A (n.*819T>A)
c.1900T>A (p.Phe634Ile)
c.2023T>A (p.Phe675Ile)
c.1756T>A (p.Phe586Ile)
c.1750T>A (p.Phe584Ile)
c.1633T>A (p.Phe545Ile)
c.2011T>A (p.Phe671Ile)
c.1744T>A (p.Phe582Ile)
c.952T>A (p.Phe318Ile)
n.2197T>A
dbSNP
8g.38414833G>ACA460395837FGFR1c.1923C>T (p.Asp641=)
c.1911C>T (p.Asp637=)
n.2816C>T
n.745C>T
n.613C>T
c.2103C>T (p.Asp701=)
n.2611C>T
c.1644C>T (p.Asp548=)
c.*1569C>T (n.*1569C>T)
c.*1890C>T (n.*1890C>T)
n.3417C>T
c.1650C>T (p.Asp550=)
c.1893C>T (p.Asp631=)
c.*973C>T (n.*973C>T)
c.1656C>T (p.Asp552=)
c.1917C>T (p.Asp639=)
c.2016C>T (p.Asp672=)
n.4202C>T
n.1445C>T
c.123C>T (p.Asp41=)
n.469C>T
c.*818C>T (n.*818C>T)
c.1899C>T (p.Asp633=)
c.2022C>T (p.Asp674=)
c.1755C>T (p.Asp585=)
c.1749C>T (p.Asp583=)
c.1632C>T (p.Asp544=)
c.2010C>T (p.Asp670=)
c.1743C>T (p.Asp581=)
c.951C>T (p.Asp317=)
n.2196C>T
gnomAD v4
8g.38414833G>CCA370730299FGFR1c.1923C>G (p.Asp641Glu)
c.1911C>G (p.Asp637Glu)
n.2816C>G
n.745C>G
n.613C>G
c.2103C>G (p.Asp701Glu)
n.2611C>G
c.1644C>G (p.Asp548Glu)
c.*1569C>G (n.*1569C>G)
c.*1890C>G (n.*1890C>G)
n.3417C>G
c.1650C>G (p.Asp550Glu)
c.1893C>G (p.Asp631Glu)
c.*973C>G (n.*973C>G)
c.1656C>G (p.Asp552Glu)
c.1917C>G (p.Asp639Glu)
c.2016C>G (p.Asp672Glu)
n.4202C>G
n.1445C>G
c.123C>G (p.Asp41Glu)
n.469C>G
c.*818C>G (n.*818C>G)
c.1899C>G (p.Asp633Glu)
c.2022C>G (p.Asp674Glu)
c.1755C>G (p.Asp585Glu)
c.1749C>G (p.Asp583Glu)
c.1632C>G (p.Asp544Glu)
c.2010C>G (p.Asp670Glu)
c.1743C>G (p.Asp581Glu)
c.951C>G (p.Asp317Glu)
n.2196C>G
dbSNP
8g.38414833G>TCA370730301FGFR1c.1923C>A (p.Asp641Glu)
c.1911C>A (p.Asp637Glu)
n.2816C>A
n.745C>A
n.613C>A
c.2103C>A (p.Asp701Glu)
n.2611C>A
c.1644C>A (p.Asp548Glu)
c.*1569C>A (n.*1569C>A)
c.*1890C>A (n.*1890C>A)
n.3417C>A
c.1650C>A (p.Asp550Glu)
c.1893C>A (p.Asp631Glu)
c.*973C>A (n.*973C>A)
c.1656C>A (p.Asp552Glu)
c.1917C>A (p.Asp639Glu)
c.2016C>A (p.Asp672Glu)
n.4202C>A
n.1445C>A
c.123C>A (p.Asp41Glu)
n.469C>A
c.*818C>A (n.*818C>A)
c.1899C>A (p.Asp633Glu)
c.2022C>A (p.Asp674Glu)
c.1755C>A (p.Asp585Glu)
c.1749C>A (p.Asp583Glu)
c.1632C>A (p.Asp544Glu)
c.2010C>A (p.Asp670Glu)
c.1743C>A (p.Asp581Glu)
c.951C>A (p.Asp317Glu)
n.2196C>A
dbSNP
8g.38414834T>ACA370730304FGFR1c.1922A>T (p.Asp641Val)
c.1910A>T (p.Asp637Val)
n.2815A>T
n.744A>T
n.612A>T
c.2102A>T (p.Asp701Val)
n.2610A>T
c.1643A>T (p.Asp548Val)
c.*1568A>T (n.*1568A>T)
c.*1889A>T (n.*1889A>T)
n.3416A>T
c.1649A>T (p.Asp550Val)
c.1892A>T (p.Asp631Val)
c.*972A>T (n.*972A>T)
c.1655A>T (p.Asp552Val)
c.1916A>T (p.Asp639Val)
c.2015A>T (p.Asp672Val)
n.4201A>T
n.1444A>T
c.122A>T (p.Asp41Val)
n.468A>T
c.*817A>T (n.*817A>T)
c.1898A>T (p.Asp633Val)
c.2021A>T (p.Asp674Val)
c.1754A>T (p.Asp585Val)
c.1748A>T (p.Asp583Val)
c.1631A>T (p.Asp544Val)
c.2009A>T (p.Asp670Val)
c.1742A>T (p.Asp581Val)
c.950A>T (p.Asp317Val)
n.2195A>T
dbSNP
8g.38414834T>CCA370730309FGFR1c.1922A>G (p.Asp641Gly)
c.1910A>G (p.Asp637Gly)
n.2815A>G
n.744A>G
n.612A>G
c.2102A>G (p.Asp701Gly)
n.2610A>G
c.1643A>G (p.Asp548Gly)
c.*1568A>G (n.*1568A>G)
c.*1889A>G (n.*1889A>G)
n.3416A>G
c.1649A>G (p.Asp550Gly)
c.1892A>G (p.Asp631Gly)
c.*972A>G (n.*972A>G)
c.1655A>G (p.Asp552Gly)
c.1916A>G (p.Asp639Gly)
c.2015A>G (p.Asp672Gly)
n.4201A>G
n.1444A>G
c.122A>G (p.Asp41Gly)
n.468A>G
c.*817A>G (n.*817A>G)
c.1898A>G (p.Asp633Gly)
c.2021A>G (p.Asp674Gly)
c.1754A>G (p.Asp585Gly)
c.1748A>G (p.Asp583Gly)
c.1631A>G (p.Asp544Gly)
c.2009A>G (p.Asp670Gly)
c.1742A>G (p.Asp581Gly)
c.950A>G (p.Asp317Gly)
n.2195A>G
ClinVar dbSNP
8g.38414834T>GCA370730306FGFR1c.1922A>C (p.Asp641Ala)
c.1910A>C (p.Asp637Ala)
n.2815A>C
n.744A>C
n.612A>C
c.2102A>C (p.Asp701Ala)
n.2610A>C
c.1643A>C (p.Asp548Ala)
c.*1568A>C (n.*1568A>C)
c.*1889A>C (n.*1889A>C)
n.3416A>C
c.1649A>C (p.Asp550Ala)
c.1892A>C (p.Asp631Ala)
c.*972A>C (n.*972A>C)
c.1655A>C (p.Asp552Ala)
c.1916A>C (p.Asp639Ala)
c.2015A>C (p.Asp672Ala)
n.4201A>C
n.1444A>C
c.122A>C (p.Asp41Ala)
n.468A>C
c.*817A>C (n.*817A>C)
c.1898A>C (p.Asp633Ala)
c.2021A>C (p.Asp674Ala)
c.1754A>C (p.Asp585Ala)
c.1748A>C (p.Asp583Ala)
c.1631A>C (p.Asp544Ala)
c.2009A>C (p.Asp670Ala)
c.1742A>C (p.Asp581Ala)
c.950A>C (p.Asp317Ala)
n.2195A>C
8g.38414835C>ACA370730312FGFR1c.1921G>T (p.Asp641Tyr)
c.1909G>T (p.Asp637Tyr)
n.2814G>T
n.743G>T
n.611G>T
c.2101G>T (p.Asp701Tyr)
n.2609G>T
c.1642G>T (p.Asp548Tyr)
c.*1567G>T (n.*1567G>T)
c.*1888G>T (n.*1888G>T)
n.3415G>T
c.1648G>T (p.Asp550Tyr)
c.1891G>T (p.Asp631Tyr)
c.*971G>T (n.*971G>T)
c.1654G>T (p.Asp552Tyr)
c.1915G>T (p.Asp639Tyr)
c.2014G>T (p.Asp672Tyr)
n.4200G>T
n.1443G>T
c.121G>T (p.Asp41Tyr)
n.467G>T
c.*816G>T (n.*816G>T)
c.1897G>T (p.Asp633Tyr)
c.2020G>T (p.Asp674Tyr)
c.1753G>T (p.Asp585Tyr)
c.1747G>T (p.Asp583Tyr)
c.1630G>T (p.Asp544Tyr)
c.2008G>T (p.Asp670Tyr)
c.1741G>T (p.Asp581Tyr)
c.949G>T (p.Asp317Tyr)
n.2194G>T
8g.38414835C=CA1777534781FGFR1c.1921G= (p.Asp641=)
c.1909G= (p.Asp637=)
n.2814G=
n.743G=
n.611G=
c.2101G= (p.Asp701=)
n.2609G=
c.1642G= (p.Asp548=)
c.*1567G= (n.*1567G=)
c.*1888G= (n.*1888G=)
n.3415G=
c.1648G= (p.Asp550=)
c.1891G= (p.Asp631=)
c.*971G= (n.*971G=)
c.1654G= (p.Asp552=)
c.1915G= (p.Asp639=)
c.2014G= (p.Asp672=)
n.4200G=
n.1443G=
c.121G= (p.Asp41=)
n.467G=
c.*816G= (n.*816G=)
c.1897G= (p.Asp633=)
c.2020G= (p.Asp674=)
c.1753G= (p.Asp585=)
c.1747G= (p.Asp583=)
c.1630G= (p.Asp544=)
c.2008G= (p.Asp670=)
c.1741G= (p.Asp581=)
c.949G= (p.Asp317=)
n.2194G=
8g.38414835C>GCA370730314FGFR1c.1921G>C (p.Asp641His)
c.1909G>C (p.Asp637His)
n.2814G>C
n.743G>C
n.611G>C
c.2101G>C (p.Asp701His)
n.2609G>C
c.1642G>C (p.Asp548His)
c.*1567G>C (n.*1567G>C)
c.*1888G>C (n.*1888G>C)
n.3415G>C
c.1648G>C (p.Asp550His)
c.1891G>C (p.Asp631His)
c.*971G>C (n.*971G>C)
c.1654G>C (p.Asp552His)
c.1915G>C (p.Asp639His)
c.2014G>C (p.Asp672His)
n.4200G>C
n.1443G>C
c.121G>C (p.Asp41His)
n.467G>C
c.*816G>C (n.*816G>C)
c.1897G>C (p.Asp633His)
c.2020G>C (p.Asp674His)
c.1753G>C (p.Asp585His)
c.1747G>C (p.Asp583His)
c.1630G>C (p.Asp544His)
c.2008G>C (p.Asp670His)
c.1741G>C (p.Asp581His)
c.949G>C (p.Asp317His)
n.2194G>C
dbSNP
8g.38414835C>TCA370730316FGFR1c.1921G>A (p.Asp641Asn)
c.1909G>A (p.Asp637Asn)
n.2814G>A
n.743G>A
n.611G>A
c.2101G>A (p.Asp701Asn)
n.2609G>A
c.1642G>A (p.Asp548Asn)
c.*1567G>A (n.*1567G>A)
c.*1888G>A (n.*1888G>A)
n.3415G>A
c.1648G>A (p.Asp550Asn)
c.1891G>A (p.Asp631Asn)
c.*971G>A (n.*971G>A)
c.1654G>A (p.Asp552Asn)
c.1915G>A (p.Asp639Asn)
c.2014G>A (p.Asp672Asn)
n.4200G>A
n.1443G>A
c.121G>A (p.Asp41Asn)
n.467G>A
c.*816G>A (n.*816G>A)
c.1897G>A (p.Asp633Asn)
c.2020G>A (p.Asp674Asn)
c.1753G>A (p.Asp585Asn)
c.1747G>A (p.Asp583Asn)
c.1630G>A (p.Asp544Asn)
c.2008G>A (p.Asp670Asn)
c.1741G>A (p.Asp581Asn)
c.949G>A (p.Asp317Asn)
n.2194G>A
ClinVar dbSNP
8g.38414836T>ACA460395839FGFR1c.1920A>T (p.Ala640=)
c.1908A>T (p.Ala636=)
n.2813A>T
n.742A>T
n.610A>T
c.2100A>T (p.Ala700=)
n.2608A>T
c.1641A>T (p.Ala547=)
c.*1566A>T (n.*1566A>T)
c.*1887A>T (n.*1887A>T)
n.3414A>T
c.1647A>T (p.Ala549=)
c.1890A>T (p.Ala630=)
c.*970A>T (n.*970A>T)
c.1653A>T (p.Ala551=)
c.1914A>T (p.Ala638=)
c.2013A>T (p.Ala671=)
n.4199A>T
n.1442A>T
c.120A>T (p.Ala40=)
n.466A>T
c.*815A>T (n.*815A>T)
c.1896A>T (p.Ala632=)
c.2019A>T (p.Ala673=)
c.1752A>T (p.Ala584=)
c.1746A>T (p.Ala582=)
c.1629A>T (p.Ala543=)
c.2007A>T (p.Ala669=)
c.1740A>T (p.Ala580=)
c.948A>T (p.Ala316=)
n.2193A>T
gnomAD v4
8g.38414836T>CCA4718235FGFR1c.1920A>G (p.Ala640=)
c.1908A>G (p.Ala636=)
n.2813A>G
n.742A>G
n.610A>G
c.2100A>G (p.Ala700=)
n.2608A>G
c.1641A>G (p.Ala547=)
c.*1566A>G (n.*1566A>G)
c.*1887A>G (n.*1887A>G)
n.3414A>G
c.1647A>G (p.Ala549=)
c.1890A>G (p.Ala630=)
c.*970A>G (n.*970A>G)
c.1653A>G (p.Ala551=)
c.1914A>G (p.Ala638=)
c.2013A>G (p.Ala671=)
n.4199A>G
n.1442A>G
c.120A>G (p.Ala40=)
n.466A>G
c.*815A>G (n.*815A>G)
c.1896A>G (p.Ala632=)
c.2019A>G (p.Ala673=)
c.1752A>G (p.Ala584=)
c.1746A>G (p.Ala582=)
c.1629A>G (p.Ala543=)
c.2007A>G (p.Ala669=)
c.1740A>G (p.Ala580=)
c.948A>G (p.Ala316=)
n.2193A>G
dbSNP ExAC gnomAD v2 gnomAD v4
8g.38414836T>GCA460395841FGFR1c.1920A>C (p.Ala640=)
c.1908A>C (p.Ala636=)
n.2813A>C
n.742A>C
n.610A>C
c.2100A>C (p.Ala700=)
n.2608A>C
c.1641A>C (p.Ala547=)
c.*1566A>C (n.*1566A>C)
c.*1887A>C (n.*1887A>C)
n.3414A>C
c.1647A>C (p.Ala549=)
c.1890A>C (p.Ala630=)
c.*970A>C (n.*970A>C)
c.1653A>C (p.Ala551=)
c.1914A>C (p.Ala638=)
c.2013A>C (p.Ala671=)
n.4199A>C
n.1442A>C
c.120A>C (p.Ala40=)
n.466A>C
c.*815A>C (n.*815A>C)
c.1896A>C (p.Ala632=)
c.2019A>C (p.Ala673=)
c.1752A>C (p.Ala584=)
c.1746A>C (p.Ala582=)
c.1629A>C (p.Ala543=)
c.2007A>C (p.Ala669=)
c.1740A>C (p.Ala580=)
c.948A>C (p.Ala316=)
n.2193A>C
8g.38414836T=CA1777534783FGFR1c.1920A= (p.Ala640=)
c.1908A= (p.Ala636=)
n.2813A=
n.742A=
n.610A=
c.2100A= (p.Ala700=)
n.2608A=
c.1641A= (p.Ala547=)
c.*1566A= (n.*1566A=)
c.*1887A= (n.*1887A=)
n.3414A=
c.1647A= (p.Ala549=)
c.1890A= (p.Ala630=)
c.*970A= (n.*970A=)
c.1653A= (p.Ala551=)
c.1914A= (p.Ala638=)
c.2013A= (p.Ala671=)
n.4199A=
n.1442A=
c.120A= (p.Ala40=)
n.466A=
c.*815A= (n.*815A=)
c.1896A= (p.Ala632=)
c.2019A= (p.Ala673=)
c.1752A= (p.Ala584=)
c.1746A= (p.Ala582=)
c.1629A= (p.Ala543=)
c.2007A= (p.Ala669=)
c.1740A= (p.Ala580=)
c.948A= (p.Ala316=)
n.2193A=
8g.38414837delCA2717027922FGFR1c.1919del (p.Ala640GlufsTer25)
c.1907del (p.Ala636GlufsTer25)
n.2812del
n.741del
n.609del
c.2099del (p.Ala700GlufsTer25)
n.2607del
c.1640del (p.Ala547GlufsTer25)
c.*1565del (n.*1565del)
c.*1886del (n.*1886del)
n.3413del
c.1646del (p.Ala549GlufsTer25)
c.1889del (p.Ala630GlufsTer25)
c.*969del (n.*969del)
c.1652del (p.Ala551GlufsTer25)
c.1913del (p.Ala638GlufsTer25)
c.2012del (p.Ala671GlufsTer25)
n.4198del
n.1441del
c.119del (p.Ala40GlufsTer25)
n.465del
c.*814del (n.*814del)
c.1895del (p.Ala632GlufsTer25)
c.2018del (p.Ala673GlufsTer25)
c.1751del (p.Ala584GlufsTer25)
c.1745del (p.Ala582GlufsTer25)
c.1628del (p.Ala543GlufsTer25)
c.2006del (p.Ala669GlufsTer25)
c.1739del (p.Ala580GlufsTer25)
c.947del (p.Ala316GlufsTer25)
n.2192del
dbSNP
8g.38414837G>ACA370730320FGFR1c.1919C>T (p.Ala640Val)
c.1907C>T (p.Ala636Val)
n.2812C>T
n.741C>T
n.609C>T
c.2099C>T (p.Ala700Val)
n.2607C>T
c.1640C>T (p.Ala547Val)
c.*1565C>T (n.*1565C>T)
c.*1886C>T (n.*1886C>T)
n.3413C>T
c.1646C>T (p.Ala549Val)
c.1889C>T (p.Ala630Val)
c.*969C>T (n.*969C>T)
c.1652C>T (p.Ala551Val)
c.1913C>T (p.Ala638Val)
c.2012C>T (p.Ala671Val)
n.4198C>T
n.1441C>T
c.119C>T (p.Ala40Val)
n.465C>T
c.*814C>T (n.*814C>T)
c.1895C>T (p.Ala632Val)
c.2018C>T (p.Ala673Val)
c.1751C>T (p.Ala584Val)
c.1745C>T (p.Ala582Val)
c.1628C>T (p.Ala543Val)
c.2006C>T (p.Ala669Val)
c.1739C>T (p.Ala580Val)
c.947C>T (p.Ala316Val)
n.2192C>T
ClinVar dbSNP
8g.38414837G>CCA370730322FGFR1c.1919C>G (p.Ala640Gly)
c.1907C>G (p.Ala636Gly)
n.2812C>G
n.741C>G
n.609C>G
c.2099C>G (p.Ala700Gly)
n.2607C>G
c.1640C>G (p.Ala547Gly)
c.*1565C>G (n.*1565C>G)
c.*1886C>G (n.*1886C>G)
n.3413C>G
c.1646C>G (p.Ala549Gly)
c.1889C>G (p.Ala630Gly)
c.*969C>G (n.*969C>G)
c.1652C>G (p.Ala551Gly)
c.1913C>G (p.Ala638Gly)
c.2012C>G (p.Ala671Gly)
n.4198C>G
n.1441C>G
c.119C>G (p.Ala40Gly)
n.465C>G
c.*814C>G (n.*814C>G)
c.1895C>G (p.Ala632Gly)
c.2018C>G (p.Ala673Gly)
c.1751C>G (p.Ala584Gly)
c.1745C>G (p.Ala582Gly)
c.1628C>G (p.Ala543Gly)
c.2006C>G (p.Ala669Gly)
c.1739C>G (p.Ala580Gly)
c.947C>G (p.Ala316Gly)
n.2192C>G
dbSNP
8g.38414837G=CA1777534786FGFR1c.1919C= (p.Ala640=)
c.1907C= (p.Ala636=)
n.2812C=
n.741C=
n.609C=
c.2099C= (p.Ala700=)
n.2607C=
c.1640C= (p.Ala547=)
c.*1565C= (n.*1565C=)
c.*1886C= (n.*1886C=)
n.3413C=
c.1646C= (p.Ala549=)
c.1889C= (p.Ala630=)
c.*969C= (n.*969C=)
c.1652C= (p.Ala551=)
c.1913C= (p.Ala638=)
c.2012C= (p.Ala671=)
n.4198C=
n.1441C=
c.119C= (p.Ala40=)
n.465C=
c.*814C= (n.*814C=)
c.1895C= (p.Ala632=)
c.2018C= (p.Ala673=)
c.1751C= (p.Ala584=)
c.1745C= (p.Ala582=)
c.1628C= (p.Ala543=)
c.2006C= (p.Ala669=)
c.1739C= (p.Ala580=)
c.947C= (p.Ala316=)
n.2192C=
8g.38414837G>TCA370730323FGFR1c.1919C>A (p.Ala640Glu)
c.1907C>A (p.Ala636Glu)
n.2812C>A
n.741C>A
n.609C>A
c.2099C>A (p.Ala700Glu)
n.2607C>A
c.1640C>A (p.Ala547Glu)
c.*1565C>A (n.*1565C>A)
c.*1886C>A (n.*1886C>A)
n.3413C>A
c.1646C>A (p.Ala549Glu)
c.1889C>A (p.Ala630Glu)
c.*969C>A (n.*969C>A)
c.1652C>A (p.Ala551Glu)
c.1913C>A (p.Ala638Glu)
c.2012C>A (p.Ala671Glu)
n.4198C>A
n.1441C>A
c.119C>A (p.Ala40Glu)
n.465C>A
c.*814C>A (n.*814C>A)
c.1895C>A (p.Ala632Glu)
c.2018C>A (p.Ala673Glu)
c.1751C>A (p.Ala584Glu)
c.1745C>A (p.Ala582Glu)
c.1628C>A (p.Ala543Glu)
c.2006C>A (p.Ala669Glu)
c.1739C>A (p.Ala580Glu)
c.947C>A (p.Ala316Glu)
n.2192C>A
dbSNP
8g.38414838C>ACA370730326FGFR1c.1918G>T (p.Ala640Ser)
c.1906G>T (p.Ala636Ser)
n.2811G>T
n.740G>T
n.608G>T
c.2098G>T (p.Ala700Ser)
n.2606G>T
c.1639G>T (p.Ala547Ser)
c.*1564G>T (n.*1564G>T)
c.*1885G>T (n.*1885G>T)
n.3412G>T
c.1645G>T (p.Ala549Ser)
c.1888G>T (p.Ala630Ser)
c.*968G>T (n.*968G>T)
c.1651G>T (p.Ala551Ser)
c.1912G>T (p.Ala638Ser)
c.2011G>T (p.Ala671Ser)
n.4197G>T
n.1440G>T
c.118G>T (p.Ala40Ser)
n.464G>T
c.*813G>T (n.*813G>T)
c.1894G>T (p.Ala632Ser)
c.2017G>T (p.Ala673Ser)
c.1750G>T (p.Ala584Ser)
c.1744G>T (p.Ala582Ser)
c.1627G>T (p.Ala543Ser)
c.2005G>T (p.Ala669Ser)
c.1738G>T (p.Ala580Ser)
c.946G>T (p.Ala316Ser)
n.2191G>T
dbSNP
8g.38414838C>GCA370730328FGFR1c.1918G>C (p.Ala640Pro)
c.1906G>C (p.Ala636Pro)
n.2811G>C
n.740G>C
n.608G>C
c.2098G>C (p.Ala700Pro)
n.2606G>C
c.1639G>C (p.Ala547Pro)
c.*1564G>C (n.*1564G>C)
c.*1885G>C (n.*1885G>C)
n.3412G>C
c.1645G>C (p.Ala549Pro)
c.1888G>C (p.Ala630Pro)
c.*968G>C (n.*968G>C)
c.1651G>C (p.Ala551Pro)
c.1912G>C (p.Ala638Pro)
c.2011G>C (p.Ala671Pro)
n.4197G>C
n.1440G>C
c.118G>C (p.Ala40Pro)
n.464G>C
c.*813G>C (n.*813G>C)
c.1894G>C (p.Ala632Pro)
c.2017G>C (p.Ala673Pro)
c.1750G>C (p.Ala584Pro)
c.1744G>C (p.Ala582Pro)
c.1627G>C (p.Ala543Pro)
c.2005G>C (p.Ala669Pro)
c.1738G>C (p.Ala580Pro)
c.946G>C (p.Ala316Pro)
n.2191G>C
dbSNP
8g.38414838C>TCA370730329FGFR1c.1918G>A (p.Ala640Thr)
c.1906G>A (p.Ala636Thr)
n.2811G>A
n.740G>A
n.608G>A
c.2098G>A (p.Ala700Thr)
n.2606G>A
c.1639G>A (p.Ala547Thr)
c.*1564G>A (n.*1564G>A)
c.*1885G>A (n.*1885G>A)
n.3412G>A
c.1645G>A (p.Ala549Thr)
c.1888G>A (p.Ala630Thr)
c.*968G>A (n.*968G>A)
c.1651G>A (p.Ala551Thr)
c.1912G>A (p.Ala638Thr)
c.2011G>A (p.Ala671Thr)
n.4197G>A
n.1440G>A
c.118G>A (p.Ala40Thr)
n.464G>A
c.*813G>A (n.*813G>A)
c.1894G>A (p.Ala632Thr)
c.2017G>A (p.Ala673Thr)
c.1750G>A (p.Ala584Thr)
c.1744G>A (p.Ala582Thr)
c.1627G>A (p.Ala543Thr)
c.2005G>A (p.Ala669Thr)
c.1738G>A (p.Ala580Thr)
c.946G>A (p.Ala316Thr)
n.2191G>A
dbSNP
8g.38414839T>ACA460395842FGFR1c.1917A>T (p.Ile639=)
c.1905A>T (p.Ile635=)
n.2810A>T
n.739A>T
n.607A>T
c.2097A>T (p.Ile699=)
n.2605A>T
c.1638A>T (p.Ile546=)
c.*1563A>T (n.*1563A>T)
c.*1884A>T (n.*1884A>T)
n.3411A>T
c.1644A>T (p.Ile548=)
c.1887A>T (p.Ile629=)
c.*967A>T (n.*967A>T)
c.1650A>T (p.Ile550=)
c.1911A>T (p.Ile637=)
c.2010A>T (p.Ile670=)
n.4196A>T
n.1439A>T
c.117A>T (p.Ile39=)
n.463A>T
c.*812A>T (n.*812A>T)
c.1893A>T (p.Ile631=)
c.2016A>T (p.Ile672=)
c.1749A>T (p.Ile583=)
c.1743A>T (p.Ile581=)
c.1626A>T (p.Ile542=)
c.2004A>T (p.Ile668=)
c.1737A>T (p.Ile579=)
c.945A>T (p.Ile315=)
n.2190A>T
dbSNP
8g.38414839T>CCA370730332FGFR1c.1917A>G (p.Ile639Met)
c.1905A>G (p.Ile635Met)
n.2810A>G
n.739A>G
n.607A>G
c.2097A>G (p.Ile699Met)
n.2605A>G
c.1638A>G (p.Ile546Met)
c.*1563A>G (n.*1563A>G)
c.*1884A>G (n.*1884A>G)
n.3411A>G
c.1644A>G (p.Ile548Met)
c.1887A>G (p.Ile629Met)
c.*967A>G (n.*967A>G)
c.1650A>G (p.Ile550Met)
c.1911A>G (p.Ile637Met)
c.2010A>G (p.Ile670Met)
n.4196A>G
n.1439A>G
c.117A>G (p.Ile39Met)
n.463A>G
c.*812A>G (n.*812A>G)
c.1893A>G (p.Ile631Met)
c.2016A>G (p.Ile672Met)
c.1749A>G (p.Ile583Met)
c.1743A>G (p.Ile581Met)
c.1626A>G (p.Ile542Met)
c.2004A>G (p.Ile668Met)
c.1737A>G (p.Ile579Met)
c.945A>G (p.Ile315Met)
n.2190A>G
8g.38414839T>GCA460395844FGFR1c.1917A>C (p.Ile639=)
c.1905A>C (p.Ile635=)
n.2810A>C
n.739A>C
n.607A>C
c.2097A>C (p.Ile699=)
n.2605A>C
c.1638A>C (p.Ile546=)
c.*1563A>C (n.*1563A>C)
c.*1884A>C (n.*1884A>C)
n.3411A>C
c.1644A>C (p.Ile548=)
c.1887A>C (p.Ile629=)
c.*967A>C (n.*967A>C)
c.1650A>C (p.Ile550=)
c.1911A>C (p.Ile637=)
c.2010A>C (p.Ile670=)
n.4196A>C
n.1439A>C
c.117A>C (p.Ile39=)
n.463A>C
c.*812A>C (n.*812A>C)
c.1893A>C (p.Ile631=)
c.2016A>C (p.Ile672=)
c.1749A>C (p.Ile583=)
c.1743A>C (p.Ile581=)
c.1626A>C (p.Ile542=)
c.2004A>C (p.Ile668=)
c.1737A>C (p.Ile579=)
c.945A>C (p.Ile315=)
n.2190A>C
8g.38414840A=CA1777534789FGFR1c.1916T= (p.Ile639=)
c.1904T= (p.Ile635=)
n.2809T=
n.738T=
n.606T=
c.2096T= (p.Ile699=)
n.2604T=
c.1637T= (p.Ile546=)
c.*1562T= (n.*1562T=)
c.*1883T= (n.*1883T=)
n.3410T=
c.1643T= (p.Ile548=)
c.1886T= (p.Ile629=)
c.*966T= (n.*966T=)
c.1649T= (p.Ile550=)
c.1910T= (p.Ile637=)
c.2009T= (p.Ile670=)
n.4195T=
n.1438T=
c.116T= (p.Ile39=)
n.462T=
c.*811T= (n.*811T=)
c.1892T= (p.Ile631=)
c.2015T= (p.Ile672=)
c.1748T= (p.Ile583=)
c.1742T= (p.Ile581=)
c.1625T= (p.Ile542=)
c.2003T= (p.Ile668=)
c.1736T= (p.Ile579=)
c.944T= (p.Ile315=)
n.2189T=
8g.38414840A>CCA370730338FGFR1c.1916T>G (p.Ile639Arg)
c.1904T>G (p.Ile635Arg)
n.2809T>G
n.738T>G
n.606T>G
c.2096T>G (p.Ile699Arg)
n.2604T>G
c.1637T>G (p.Ile546Arg)
c.*1562T>G (n.*1562T>G)
c.*1883T>G (n.*1883T>G)
n.3410T>G
c.1643T>G (p.Ile548Arg)
c.1886T>G (p.Ile629Arg)
c.*966T>G (n.*966T>G)
c.1649T>G (p.Ile550Arg)
c.1910T>G (p.Ile637Arg)
c.2009T>G (p.Ile670Arg)
n.4195T>G
n.1438T>G
c.116T>G (p.Ile39Arg)
n.462T>G
c.*811T>G (n.*811T>G)
c.1892T>G (p.Ile631Arg)
c.2015T>G (p.Ile672Arg)
c.1748T>G (p.Ile583Arg)
c.1742T>G (p.Ile581Arg)
c.1625T>G (p.Ile542Arg)
c.2003T>G (p.Ile668Arg)
c.1736T>G (p.Ile579Arg)
c.944T>G (p.Ile315Arg)
n.2189T>G
dbSNP
8g.38414840A>GCA185884FGFR1c.1916T>C (p.Ile639Thr)
c.1904T>C (p.Ile635Thr)
n.2809T>C
n.738T>C
n.606T>C
c.2096T>C (p.Ile699Thr)
n.2604T>C
c.1637T>C (p.Ile546Thr)
c.*1562T>C (n.*1562T>C)
c.*1883T>C (n.*1883T>C)
n.3410T>C
c.1643T>C (p.Ile548Thr)
c.1886T>C (p.Ile629Thr)
c.*966T>C (n.*966T>C)
c.1649T>C (p.Ile550Thr)
c.1910T>C (p.Ile637Thr)
c.2009T>C (p.Ile670Thr)
n.4195T>C
n.1438T>C
c.116T>C (p.Ile39Thr)
n.462T>C
c.*811T>C (n.*811T>C)
c.1892T>C (p.Ile631Thr)
c.2015T>C (p.Ile672Thr)
c.1748T>C (p.Ile583Thr)
c.1742T>C (p.Ile581Thr)
c.1625T>C (p.Ile542Thr)
c.2003T>C (p.Ile668Thr)
c.1736T>C (p.Ile579Thr)
c.944T>C (p.Ile315Thr)
n.2189T>C
ClinVar dbSNP
8g.38414840A>TCA370730337FGFR1c.1916T>A (p.Ile639Lys)
c.1904T>A (p.Ile635Lys)
n.2809T>A
n.738T>A
n.606T>A
c.2096T>A (p.Ile699Lys)
n.2604T>A
c.1637T>A (p.Ile546Lys)
c.*1562T>A (n.*1562T>A)
c.*1883T>A (n.*1883T>A)
n.3410T>A
c.1643T>A (p.Ile548Lys)
c.1886T>A (p.Ile629Lys)
c.*966T>A (n.*966T>A)
c.1649T>A (p.Ile550Lys)
c.1910T>A (p.Ile637Lys)
c.2009T>A (p.Ile670Lys)
n.4195T>A
n.1438T>A
c.116T>A (p.Ile39Lys)
n.462T>A
c.*811T>A (n.*811T>A)
c.1892T>A (p.Ile631Lys)
c.2015T>A (p.Ile672Lys)
c.1748T>A (p.Ile583Lys)
c.1742T>A (p.Ile581Lys)
c.1625T>A (p.Ile542Lys)
c.2003T>A (p.Ile668Lys)
c.1736T>A (p.Ile579Lys)
c.944T>A (p.Ile315Lys)
n.2189T>A
dbSNP
8g.38414841T>ACA370730341FGFR1c.1915A>T (p.Ile639Leu)
c.1903A>T (p.Ile635Leu)
n.2808A>T
n.737A>T
n.605A>T
c.2095A>T (p.Ile699Leu)
n.2603A>T
c.1636A>T (p.Ile546Leu)
c.*1561A>T (n.*1561A>T)
c.*1882A>T (n.*1882A>T)
n.3409A>T
c.1642A>T (p.Ile548Leu)
c.1885A>T (p.Ile629Leu)
c.*965A>T (n.*965A>T)
c.1648A>T (p.Ile550Leu)
c.1909A>T (p.Ile637Leu)
c.2008A>T (p.Ile670Leu)
n.4194A>T
n.1437A>T
c.115A>T (p.Ile39Leu)
n.461A>T
c.*810A>T (n.*810A>T)
c.1891A>T (p.Ile631Leu)
c.2014A>T (p.Ile672Leu)
c.1747A>T (p.Ile583Leu)
c.1741A>T (p.Ile581Leu)
c.1624A>T (p.Ile542Leu)
c.2002A>T (p.Ile668Leu)
c.1735A>T (p.Ile579Leu)
c.943A>T (p.Ile315Leu)
n.2188A>T
dbSNP
8g.38414841T>CCA370730343FGFR1c.1915A>G (p.Ile639Val)
c.1903A>G (p.Ile635Val)
n.2808A>G
n.737A>G
n.605A>G
c.2095A>G (p.Ile699Val)
n.2603A>G
c.1636A>G (p.Ile546Val)
c.*1561A>G (n.*1561A>G)
c.*1882A>G (n.*1882A>G)
n.3409A>G
c.1642A>G (p.Ile548Val)
c.1885A>G (p.Ile629Val)
c.*965A>G (n.*965A>G)
c.1648A>G (p.Ile550Val)
c.1909A>G (p.Ile637Val)
c.2008A>G (p.Ile670Val)
n.4194A>G
n.1437A>G
c.115A>G (p.Ile39Val)
n.461A>G
c.*810A>G (n.*810A>G)
c.1891A>G (p.Ile631Val)
c.2014A>G (p.Ile672Val)
c.1747A>G (p.Ile583Val)
c.1741A>G (p.Ile581Val)
c.1624A>G (p.Ile542Val)
c.2002A>G (p.Ile668Val)
c.1735A>G (p.Ile579Val)
c.943A>G (p.Ile315Val)
n.2188A>G
gnomAD v4
8g.38414841T>GCA370730345FGFR1c.1915A>C (p.Ile639Leu)
c.1903A>C (p.Ile635Leu)
n.2808A>C
n.737A>C
n.605A>C
c.2095A>C (p.Ile699Leu)
n.2603A>C
c.1636A>C (p.Ile546Leu)
c.*1561A>C (n.*1561A>C)
c.*1882A>C (n.*1882A>C)
n.3409A>C
c.1642A>C (p.Ile548Leu)
c.1885A>C (p.Ile629Leu)
c.*965A>C (n.*965A>C)
c.1648A>C (p.Ile550Leu)
c.1909A>C (p.Ile637Leu)
c.2008A>C (p.Ile670Leu)
n.4194A>C
n.1437A>C
c.115A>C (p.Ile39Leu)
n.461A>C
c.*810A>C (n.*810A>C)
c.1891A>C (p.Ile631Leu)
c.2014A>C (p.Ile672Leu)
c.1747A>C (p.Ile583Leu)
c.1741A>C (p.Ile581Leu)
c.1624A>C (p.Ile542Leu)
c.2002A>C (p.Ile668Leu)
c.1735A>C (p.Ile579Leu)
c.943A>C (p.Ile315Leu)
n.2188A>C
8g.38414842C>ACA370730349FGFR1c.1914G>T (p.Lys638Asn)
c.1902G>T (p.Lys634Asn)
n.2807G>T
n.736G>T
n.604G>T
c.2094G>T (p.Lys698Asn)
n.2602G>T
c.1635G>T (p.Lys545Asn)
c.*1560G>T (n.*1560G>T)
c.*1881G>T (n.*1881G>T)
n.3408G>T
c.1641G>T (p.Lys547Asn)
c.1884G>T (p.Lys628Asn)
c.*964G>T (n.*964G>T)
c.1647G>T (p.Lys549Asn)
c.1908G>T (p.Lys636Asn)
c.2007G>T (p.Lys669Asn)
n.4193G>T
n.1436G>T
c.114G>T (p.Lys38Asn)
n.460G>T
c.*809G>T (n.*809G>T)
c.1890G>T (p.Lys630Asn)
c.2013G>T (p.Lys671Asn)
c.1746G>T (p.Lys582Asn)
c.1740G>T (p.Lys580Asn)
c.1623G>T (p.Lys541Asn)
c.2001G>T (p.Lys667Asn)
c.1734G>T (p.Lys578Asn)
c.942G>T (p.Lys314Asn)
n.2187G>T
8g.38414842C>GCA370730351FGFR1c.1914G>C (p.Lys638Asn)
c.1902G>C (p.Lys634Asn)
n.2807G>C
n.736G>C
n.604G>C
c.2094G>C (p.Lys698Asn)
n.2602G>C
c.1635G>C (p.Lys545Asn)
c.*1560G>C (n.*1560G>C)
c.*1881G>C (n.*1881G>C)
n.3408G>C
c.1641G>C (p.Lys547Asn)
c.1884G>C (p.Lys628Asn)
c.*964G>C (n.*964G>C)
c.1647G>C (p.Lys549Asn)
c.1908G>C (p.Lys636Asn)
c.2007G>C (p.Lys669Asn)
n.4193G>C
n.1436G>C
c.114G>C (p.Lys38Asn)
n.460G>C
c.*809G>C (n.*809G>C)
c.1890G>C (p.Lys630Asn)
c.2013G>C (p.Lys671Asn)
c.1746G>C (p.Lys582Asn)
c.1740G>C (p.Lys580Asn)
c.1623G>C (p.Lys541Asn)
c.2001G>C (p.Lys667Asn)
c.1734G>C (p.Lys578Asn)
c.942G>C (p.Lys314Asn)
n.2187G>C
dbSNP
8g.38414842C>TCA460395847FGFR1c.1914G>A (p.Lys638=)
c.1902G>A (p.Lys634=)
n.2807G>A
n.736G>A
n.604G>A
c.2094G>A (p.Lys698=)
n.2602G>A
c.1635G>A (p.Lys545=)
c.*1560G>A (n.*1560G>A)
c.*1881G>A (n.*1881G>A)
n.3408G>A
c.1641G>A (p.Lys547=)
c.1884G>A (p.Lys628=)
c.*964G>A (n.*964G>A)
c.1647G>A (p.Lys549=)
c.1908G>A (p.Lys636=)
c.2007G>A (p.Lys669=)
n.4193G>A
n.1436G>A
c.114G>A (p.Lys38=)
n.460G>A
c.*809G>A (n.*809G>A)
c.1890G>A (p.Lys630=)
c.2013G>A (p.Lys671=)
c.1746G>A (p.Lys582=)
c.1740G>A (p.Lys580=)
c.1623G>A (p.Lys541=)
c.2001G>A (p.Lys667=)
c.1734G>A (p.Lys578=)
c.942G>A (p.Lys314=)
n.2187G>A
dbSNP
8g.38414843T>ACA370730352FGFR1c.1913A>T (p.Lys638Met)
c.1901A>T (p.Lys634Met)
n.2806A>T
n.735A>T
n.603A>T
c.2093A>T (p.Lys698Met)
n.2601A>T
c.1634A>T (p.Lys545Met)
c.*1559A>T (n.*1559A>T)
c.*1880A>T (n.*1880A>T)
n.3407A>T
c.1640A>T (p.Lys547Met)
c.1883A>T (p.Lys628Met)
c.*963A>T (n.*963A>T)
c.1646A>T (p.Lys549Met)
c.1907A>T (p.Lys636Met)
c.2006A>T (p.Lys669Met)
n.4192A>T
n.1435A>T
c.113A>T (p.Lys38Met)
n.459A>T
c.*808A>T (n.*808A>T)
c.1889A>T (p.Lys630Met)
c.2012A>T (p.Lys671Met)
c.1745A>T (p.Lys582Met)
c.1739A>T (p.Lys580Met)
c.1622A>T (p.Lys541Met)
c.2000A>T (p.Lys667Met)
c.1733A>T (p.Lys578Met)
c.941A>T (p.Lys314Met)
n.2186A>T
dbSNP
8g.38414843T>CCA370730354FGFR1c.1913A>G (p.Lys638Arg)
c.1901A>G (p.Lys634Arg)
n.2806A>G
n.735A>G
n.603A>G
c.2093A>G (p.Lys698Arg)
n.2601A>G
c.1634A>G (p.Lys545Arg)
c.*1559A>G (n.*1559A>G)
c.*1880A>G (n.*1880A>G)
n.3407A>G
c.1640A>G (p.Lys547Arg)
c.1883A>G (p.Lys628Arg)
c.*963A>G (n.*963A>G)
c.1646A>G (p.Lys549Arg)
c.1907A>G (p.Lys636Arg)
c.2006A>G (p.Lys669Arg)
n.4192A>G
n.1435A>G
c.113A>G (p.Lys38Arg)
n.459A>G
c.*808A>G (n.*808A>G)
c.1889A>G (p.Lys630Arg)
c.2012A>G (p.Lys671Arg)
c.1745A>G (p.Lys582Arg)
c.1739A>G (p.Lys580Arg)
c.1622A>G (p.Lys541Arg)
c.2000A>G (p.Lys667Arg)
c.1733A>G (p.Lys578Arg)
c.941A>G (p.Lys314Arg)
n.2186A>G
8g.38414843T>GCA370730356FGFR1c.1913A>C (p.Lys638Thr)
c.1901A>C (p.Lys634Thr)
n.2806A>C
n.735A>C
n.603A>C
c.2093A>C (p.Lys698Thr)
n.2601A>C
c.1634A>C (p.Lys545Thr)
c.*1559A>C (n.*1559A>C)
c.*1880A>C (n.*1880A>C)
n.3407A>C
c.1640A>C (p.Lys547Thr)
c.1883A>C (p.Lys628Thr)
c.*963A>C (n.*963A>C)
c.1646A>C (p.Lys549Thr)
c.1907A>C (p.Lys636Thr)
c.2006A>C (p.Lys669Thr)
n.4192A>C
n.1435A>C
c.113A>C (p.Lys38Thr)
n.459A>C
c.*808A>C (n.*808A>C)
c.1889A>C (p.Lys630Thr)
c.2012A>C (p.Lys671Thr)
c.1745A>C (p.Lys582Thr)
c.1739A>C (p.Lys580Thr)
c.1622A>C (p.Lys541Thr)
c.2000A>C (p.Lys667Thr)
c.1733A>C (p.Lys578Thr)
c.941A>C (p.Lys314Thr)
n.2186A>C
8g.38414844T>ACA370730359FGFR1c.1912A>T (p.Lys638Ter)
c.1900A>T (p.Lys634Ter)
n.2805A>T
n.734A>T
n.602A>T
c.2092A>T (p.Lys698Ter)
n.2600A>T
c.1633A>T (p.Lys545Ter)
c.*1558A>T (n.*1558A>T)
c.*1879A>T (n.*1879A>T)
n.3406A>T
c.1639A>T (p.Lys547Ter)
c.1882A>T (p.Lys628Ter)
c.*962A>T (n.*962A>T)
c.1645A>T (p.Lys549Ter)
c.1906A>T (p.Lys636Ter)
c.2005A>T (p.Lys669Ter)
n.4191A>T
n.1434A>T
c.112A>T (p.Lys38Ter)
n.458A>T
c.*807A>T (n.*807A>T)
c.1888A>T (p.Lys630Ter)
c.2011A>T (p.Lys671Ter)
c.1744A>T (p.Lys582Ter)
c.1738A>T (p.Lys580Ter)
c.1621A>T (p.Lys541Ter)
c.1999A>T (p.Lys667Ter)
c.1732A>T (p.Lys578Ter)
c.940A>T (p.Lys314Ter)
n.2185A>T
dbSNP
8g.38414844T>CCA370730361FGFR1c.1912A>G (p.Lys638Glu)
c.1900A>G (p.Lys634Glu)
n.2805A>G
n.734A>G
n.602A>G
c.2092A>G (p.Lys698Glu)
n.2600A>G
c.1633A>G (p.Lys545Glu)
c.*1558A>G (n.*1558A>G)
c.*1879A>G (n.*1879A>G)
n.3406A>G
c.1639A>G (p.Lys547Glu)
c.1882A>G (p.Lys628Glu)
c.*962A>G (n.*962A>G)
c.1645A>G (p.Lys549Glu)
c.1906A>G (p.Lys636Glu)
c.2005A>G (p.Lys669Glu)
n.4191A>G
n.1434A>G
c.112A>G (p.Lys38Glu)
n.458A>G
c.*807A>G (n.*807A>G)
c.1888A>G (p.Lys630Glu)
c.2011A>G (p.Lys671Glu)
c.1744A>G (p.Lys582Glu)
c.1738A>G (p.Lys580Glu)
c.1621A>G (p.Lys541Glu)
c.1999A>G (p.Lys667Glu)
c.1732A>G (p.Lys578Glu)
c.940A>G (p.Lys314Glu)
n.2185A>G
dbSNP
8g.38414844T>GCA370730363FGFR1c.1912A>C (p.Lys638Gln)
c.1900A>C (p.Lys634Gln)
n.2805A>C
n.734A>C
n.602A>C
c.2092A>C (p.Lys698Gln)
n.2600A>C
c.1633A>C (p.Lys545Gln)
c.*1558A>C (n.*1558A>C)
c.*1879A>C (n.*1879A>C)
n.3406A>C
c.1639A>C (p.Lys547Gln)
c.1882A>C (p.Lys628Gln)
c.*962A>C (n.*962A>C)
c.1645A>C (p.Lys549Gln)
c.1906A>C (p.Lys636Gln)
c.2005A>C (p.Lys669Gln)
n.4191A>C
n.1434A>C
c.112A>C (p.Lys38Gln)
n.458A>C
c.*807A>C (n.*807A>C)
c.1888A>C (p.Lys630Gln)
c.2011A>C (p.Lys671Gln)
c.1744A>C (p.Lys582Gln)
c.1738A>C (p.Lys580Gln)
c.1621A>C (p.Lys541Gln)
c.1999A>C (p.Lys667Gln)
c.1732A>C (p.Lys578Gln)
c.940A>C (p.Lys314Gln)
n.2185A>C
8g.38414845C>ACA370730370FGFR1c.1911G>T (p.Met637Ile)
c.1899G>T (p.Met633Ile)
n.2804G>T
n.733G>T
n.601G>T
c.2091G>T (p.Met697Ile)
n.2599G>T
c.1632G>T (p.Met544Ile)
c.*1557G>T (n.*1557G>T)
c.*1878G>T (n.*1878G>T)
n.3405G>T
c.1638G>T (p.Met546Ile)
c.1881G>T (p.Met627Ile)
c.*961G>T (n.*961G>T)
c.1644G>T (p.Met548Ile)
c.1905G>T (p.Met635Ile)
c.2004G>T (p.Met668Ile)
n.4190G>T
n.1433G>T
c.111G>T (p.Met37Ile)
n.457G>T
c.*806G>T (n.*806G>T)
c.1887G>T (p.Met629Ile)
c.2010G>T (p.Met670Ile)
c.1743G>T (p.Met581Ile)
c.1737G>T (p.Met579Ile)
c.1620G>T (p.Met540Ile)
c.1998G>T (p.Met666Ile)
c.1731G>T (p.Met577Ile)
c.939G>T (p.Met313Ile)
n.2184G>T
dbSNP
8g.38414845C>GCA370730366FGFR1c.1911G>C (p.Met637Ile)
c.1899G>C (p.Met633Ile)
n.2804G>C
n.733G>C
n.601G>C
c.2091G>C (p.Met697Ile)
n.2599G>C
c.1632G>C (p.Met544Ile)
c.*1557G>C (n.*1557G>C)
c.*1878G>C (n.*1878G>C)
n.3405G>C
c.1638G>C (p.Met546Ile)
c.1881G>C (p.Met627Ile)
c.*961G>C (n.*961G>C)
c.1644G>C (p.Met548Ile)
c.1905G>C (p.Met635Ile)
c.2004G>C (p.Met668Ile)
n.4190G>C
n.1433G>C
c.111G>C (p.Met37Ile)
n.457G>C
c.*806G>C (n.*806G>C)
c.1887G>C (p.Met629Ile)
c.2010G>C (p.Met670Ile)
c.1743G>C (p.Met581Ile)
c.1737G>C (p.Met579Ile)
c.1620G>C (p.Met540Ile)
c.1998G>C (p.Met666Ile)
c.1731G>C (p.Met577Ile)
c.939G>C (p.Met313Ile)
n.2184G>C
dbSNP
8g.38414845C>TCA370730368FGFR1c.1911G>A (p.Met637Ile)
c.1899G>A (p.Met633Ile)
n.2804G>A
n.733G>A
n.601G>A
c.2091G>A (p.Met697Ile)
n.2599G>A
c.1632G>A (p.Met544Ile)
c.*1557G>A (n.*1557G>A)
c.*1878G>A (n.*1878G>A)
n.3405G>A
c.1638G>A (p.Met546Ile)
c.1881G>A (p.Met627Ile)
c.*961G>A (n.*961G>A)
c.1644G>A (p.Met548Ile)
c.1905G>A (p.Met635Ile)
c.2004G>A (p.Met668Ile)
n.4190G>A
n.1433G>A
c.111G>A (p.Met37Ile)
n.457G>A
c.*806G>A (n.*806G>A)
c.1887G>A (p.Met629Ile)
c.2010G>A (p.Met670Ile)
c.1743G>A (p.Met581Ile)
c.1737G>A (p.Met579Ile)
c.1620G>A (p.Met540Ile)
c.1998G>A (p.Met666Ile)
c.1731G>A (p.Met577Ile)
c.939G>A (p.Met313Ile)
n.2184G>A
dbSNP gnomAD v4
8g.38414846A>CCA370730372FGFR1c.1910T>G (p.Met637Arg)
c.1898T>G (p.Met633Arg)
n.2803T>G
n.732T>G
n.600T>G
c.2090T>G (p.Met697Arg)
n.2598T>G
c.1631T>G (p.Met544Arg)
c.*1556T>G (n.*1556T>G)
c.*1877T>G (n.*1877T>G)
n.3404T>G
c.1637T>G (p.Met546Arg)
c.1880T>G (p.Met627Arg)
c.*960T>G (n.*960T>G)
c.1643T>G (p.Met548Arg)
c.1904T>G (p.Met635Arg)
c.2003T>G (p.Met668Arg)
n.4189T>G
n.1432T>G
c.110T>G (p.Met37Arg)
n.456T>G
c.*805T>G (n.*805T>G)
c.1886T>G (p.Met629Arg)
c.2009T>G (p.Met670Arg)
c.1742T>G (p.Met581Arg)
c.1736T>G (p.Met579Arg)
c.1619T>G (p.Met540Arg)
c.1997T>G (p.Met666Arg)
c.1730T>G (p.Met577Arg)
c.938T>G (p.Met313Arg)
n.2183T>G
dbSNP
8g.38414846A>GCA370730375FGFR1c.1910T>C (p.Met637Thr)
c.1898T>C (p.Met633Thr)
n.2803T>C
n.732T>C
n.600T>C
c.2090T>C (p.Met697Thr)
n.2598T>C
c.1631T>C (p.Met544Thr)
c.*1556T>C (n.*1556T>C)
c.*1877T>C (n.*1877T>C)
n.3404T>C
c.1637T>C (p.Met546Thr)
c.1880T>C (p.Met627Thr)
c.*960T>C (n.*960T>C)
c.1643T>C (p.Met548Thr)
c.1904T>C (p.Met635Thr)
c.2003T>C (p.Met668Thr)
n.4189T>C
n.1432T>C
c.110T>C (p.Met37Thr)
n.456T>C
c.*805T>C (n.*805T>C)
c.1886T>C (p.Met629Thr)
c.2009T>C (p.Met670Thr)
c.1742T>C (p.Met581Thr)
c.1736T>C (p.Met579Thr)
c.1619T>C (p.Met540Thr)
c.1997T>C (p.Met666Thr)
c.1730T>C (p.Met577Thr)
c.938T>C (p.Met313Thr)
n.2183T>C
8g.38414846A>TCA370730377FGFR1c.1910T>A (p.Met637Lys)
c.1898T>A (p.Met633Lys)
n.2803T>A
n.732T>A
n.600T>A
c.2090T>A (p.Met697Lys)
n.2598T>A
c.1631T>A (p.Met544Lys)
c.*1556T>A (n.*1556T>A)
c.*1877T>A (n.*1877T>A)
n.3404T>A
c.1637T>A (p.Met546Lys)
c.1880T>A (p.Met627Lys)
c.*960T>A (n.*960T>A)
c.1643T>A (p.Met548Lys)
c.1904T>A (p.Met635Lys)
c.2003T>A (p.Met668Lys)
n.4189T>A
n.1432T>A
c.110T>A (p.Met37Lys)
n.456T>A
c.*805T>A (n.*805T>A)
c.1886T>A (p.Met629Lys)
c.2009T>A (p.Met670Lys)
c.1742T>A (p.Met581Lys)
c.1736T>A (p.Met579Lys)
c.1619T>A (p.Met540Lys)
c.1997T>A (p.Met666Lys)
c.1730T>A (p.Met577Lys)
c.938T>A (p.Met313Lys)
n.2183T>A
dbSNP
8g.38414847T>ACA370730380FGFR1c.1909A>T (p.Met637Leu)
c.1897A>T (p.Met633Leu)
n.2802A>T
n.731A>T
n.599A>T
c.2089A>T (p.Met697Leu)
n.2597A>T
c.1630A>T (p.Met544Leu)
c.*1555A>T (n.*1555A>T)
c.*1876A>T (n.*1876A>T)
n.3403A>T
c.1636A>T (p.Met546Leu)
c.1879A>T (p.Met627Leu)
c.*959A>T (n.*959A>T)
c.1642A>T (p.Met548Leu)
c.1903A>T (p.Met635Leu)
c.2002A>T (p.Met668Leu)
n.4188A>T
n.1431A>T
c.109A>T (p.Met37Leu)
n.455A>T
c.*804A>T (n.*804A>T)
c.1885A>T (p.Met629Leu)
c.2008A>T (p.Met670Leu)
c.1741A>T (p.Met581Leu)
c.1735A>T (p.Met579Leu)
c.1618A>T (p.Met540Leu)
c.1996A>T (p.Met666Leu)
c.1729A>T (p.Met577Leu)
c.937A>T (p.Met313Leu)
n.2182A>T
8g.38414847T>CCA370730382FGFR1c.1909A>G (p.Met637Val)
c.1897A>G (p.Met633Val)
n.2802A>G
n.731A>G
n.599A>G
c.2089A>G (p.Met697Val)
n.2597A>G
c.1630A>G (p.Met544Val)
c.*1555A>G (n.*1555A>G)
c.*1876A>G (n.*1876A>G)
n.3403A>G
c.1636A>G (p.Met546Val)
c.1879A>G (p.Met627Val)
c.*959A>G (n.*959A>G)
c.1642A>G (p.Met548Val)
c.1903A>G (p.Met635Val)
c.2002A>G (p.Met668Val)
n.4188A>G
n.1431A>G
c.109A>G (p.Met37Val)
n.455A>G
c.*804A>G (n.*804A>G)
c.1885A>G (p.Met629Val)
c.2008A>G (p.Met670Val)
c.1741A>G (p.Met581Val)
c.1735A>G (p.Met579Val)
c.1618A>G (p.Met540Val)
c.1996A>G (p.Met666Val)
c.1729A>G (p.Met577Val)
c.937A>G (p.Met313Val)
n.2182A>G
ClinVar dbSNP
8g.38414847T>GCA370730383FGFR1c.1909A>C (p.Met637Leu)
c.1897A>C (p.Met633Leu)
n.2802A>C
n.731A>C
n.599A>C
c.2089A>C (p.Met697Leu)
n.2597A>C
c.1630A>C (p.Met544Leu)
c.*1555A>C (n.*1555A>C)
c.*1876A>C (n.*1876A>C)
n.3403A>C
c.1636A>C (p.Met546Leu)
c.1879A>C (p.Met627Leu)
c.*959A>C (n.*959A>C)
c.1642A>C (p.Met548Leu)
c.1903A>C (p.Met635Leu)
c.2002A>C (p.Met668Leu)
n.4188A>C
n.1431A>C
c.109A>C (p.Met37Leu)
n.455A>C
c.*804A>C (n.*804A>C)
c.1885A>C (p.Met629Leu)
c.2008A>C (p.Met670Leu)
c.1741A>C (p.Met581Leu)
c.1735A>C (p.Met579Leu)
c.1618A>C (p.Met540Leu)
c.1996A>C (p.Met666Leu)
c.1729A>C (p.Met577Leu)
c.937A>C (p.Met313Leu)
n.2182A>C
8g.38414848C>ACA460395858FGFR1c.1908G>T (p.Val636=)
c.1896G>T (p.Val632=)
n.2801G>T
n.730G>T
n.598G>T
c.2088G>T (p.Val696=)
n.2596G>T
c.1629G>T (p.Val543=)
c.*1554G>T (n.*1554G>T)
c.*1875G>T (n.*1875G>T)
n.3402G>T
c.1635G>T (p.Val545=)
c.1878G>T (p.Val626=)
c.*958G>T (n.*958G>T)
c.1641G>T (p.Val547=)
c.1902G>T (p.Val634=)
c.2001G>T (p.Val667=)
n.4187G>T
n.1430G>T
c.108G>T (p.Val36=)
n.454G>T
c.*803G>T (n.*803G>T)
c.1884G>T (p.Val628=)
c.2007G>T (p.Val669=)
c.1740G>T (p.Val580=)
c.1734G>T (p.Val578=)
c.1617G>T (p.Val539=)
c.1995G>T (p.Val665=)
c.1728G>T (p.Val576=)
c.936G>T (p.Val312=)
n.2181G>T
8g.38414848C>GCA460395855FGFR1c.1908G>C (p.Val636=)
c.1896G>C (p.Val632=)
n.2801G>C
n.730G>C
n.598G>C
c.2088G>C (p.Val696=)
n.2596G>C
c.1629G>C (p.Val543=)
c.*1554G>C (n.*1554G>C)
c.*1875G>C (n.*1875G>C)
n.3402G>C
c.1635G>C (p.Val545=)
c.1878G>C (p.Val626=)
c.*958G>C (n.*958G>C)
c.1641G>C (p.Val547=)
c.1902G>C (p.Val634=)
c.2001G>C (p.Val667=)
n.4187G>C
n.1430G>C
c.108G>C (p.Val36=)
n.454G>C
c.*803G>C (n.*803G>C)
c.1884G>C (p.Val628=)
c.2007G>C (p.Val669=)
c.1740G>C (p.Val580=)
c.1734G>C (p.Val578=)
c.1617G>C (p.Val539=)
c.1995G>C (p.Val665=)
c.1728G>C (p.Val576=)
c.936G>C (p.Val312=)
n.2181G>C
dbSNP
8g.38414848C>TCA460395857FGFR1c.1908G>A (p.Val636=)
c.1896G>A (p.Val632=)
n.2801G>A
n.730G>A
n.598G>A
c.2088G>A (p.Val696=)
n.2596G>A
c.1629G>A (p.Val543=)
c.*1554G>A (n.*1554G>A)
c.*1875G>A (n.*1875G>A)
n.3402G>A
c.1635G>A (p.Val545=)
c.1878G>A (p.Val626=)
c.*958G>A (n.*958G>A)
c.1641G>A (p.Val547=)
c.1902G>A (p.Val634=)
c.2001G>A (p.Val667=)
n.4187G>A
n.1430G>A
c.108G>A (p.Val36=)
n.454G>A
c.*803G>A (n.*803G>A)
c.1884G>A (p.Val628=)
c.2007G>A (p.Val669=)
c.1740G>A (p.Val580=)
c.1734G>A (p.Val578=)
c.1617G>A (p.Val539=)
c.1995G>A (p.Val665=)
c.1728G>A (p.Val576=)
c.936G>A (p.Val312=)
n.2181G>A
dbSNP
8g.38414850_38414851delCA2695209152FGFR1c.1907_1908del (p.Val636AspfsTer19)
c.1895_1896del (p.Val632AspfsTer19)
n.2800_2801del
n.729_730del
n.597_598del
c.2087_2088del (p.Val696AspfsTer19)
n.2595_2596del
c.1628_1629del (p.Val543AspfsTer19)
c.*1553_*1554del (n.*1553_*1554del)
c.*1874_*1875del (n.*1874_*1875del)
n.3401_3402del
c.1634_1635del (p.Val545AspfsTer19)
c.1877_1878del (p.Val626AspfsTer19)
c.*957_*958del (n.*957_*958del)
c.1640_1641del (p.Val547AspfsTer19)
c.1901_1902del (p.Val634AspfsTer19)
c.2000_2001del (p.Val667AspfsTer19)
n.4186_4187del
n.1429_1430del
c.107_108del (p.Val36AspfsTer19)
n.453_454del
c.*802_*803del (n.*802_*803del)
c.1883_1884del (p.Val628AspfsTer19)
c.2006_2007del (p.Val669AspfsTer19)
c.1739_1740del (p.Val580AspfsTer19)
c.1733_1734del (p.Val578AspfsTer19)
c.1616_1617del (p.Val539AspfsTer19)
c.1994_1995del (p.Val665AspfsTer19)
c.1727_1728del (p.Val576AspfsTer19)
c.935_936del (p.Val312AspfsTer19)
n.2180_2181del
8g.38414849A>CCA370730385FGFR1c.1907T>G (p.Val636Gly)
c.1895T>G (p.Val632Gly)
n.2800T>G
n.729T>G
n.597T>G
c.2087T>G (p.Val696Gly)
n.2595T>G
c.1628T>G (p.Val543Gly)
c.*1553T>G (n.*1553T>G)
c.*1874T>G (n.*1874T>G)
n.3401T>G
c.1634T>G (p.Val545Gly)
c.1877T>G (p.Val626Gly)
c.*957T>G (n.*957T>G)
c.1640T>G (p.Val547Gly)
c.1901T>G (p.Val634Gly)
c.2000T>G (p.Val667Gly)
n.4186T>G
n.1429T>G
c.107T>G (p.Val36Gly)
n.453T>G
c.*802T>G (n.*802T>G)
c.1883T>G (p.Val628Gly)
c.2006T>G (p.Val669Gly)
c.1739T>G (p.Val580Gly)
c.1733T>G (p.Val578Gly)
c.1616T>G (p.Val539Gly)
c.1994T>G (p.Val665Gly)
c.1727T>G (p.Val576Gly)
c.935T>G (p.Val312Gly)
n.2180T>G
8g.38414849A>GCA370730386FGFR1c.1907T>C (p.Val636Ala)
c.1895T>C (p.Val632Ala)
n.2800T>C
n.729T>C
n.597T>C
c.2087T>C (p.Val696Ala)
n.2595T>C
c.1628T>C (p.Val543Ala)
c.*1553T>C (n.*1553T>C)
c.*1874T>C (n.*1874T>C)
n.3401T>C
c.1634T>C (p.Val545Ala)
c.1877T>C (p.Val626Ala)
c.*957T>C (n.*957T>C)
c.1640T>C (p.Val547Ala)
c.1901T>C (p.Val634Ala)
c.2000T>C (p.Val667Ala)
n.4186T>C
n.1429T>C
c.107T>C (p.Val36Ala)
n.453T>C
c.*802T>C (n.*802T>C)
c.1883T>C (p.Val628Ala)
c.2006T>C (p.Val669Ala)
c.1739T>C (p.Val580Ala)
c.1733T>C (p.Val578Ala)
c.1616T>C (p.Val539Ala)
c.1994T>C (p.Val665Ala)
c.1727T>C (p.Val576Ala)
c.935T>C (p.Val312Ala)
n.2180T>C
8g.38414849A>TCA370730389FGFR1c.1907T>A (p.Val636Glu)
c.1895T>A (p.Val632Glu)
n.2800T>A
n.729T>A
n.597T>A
c.2087T>A (p.Val696Glu)
n.2595T>A
c.1628T>A (p.Val543Glu)
c.*1553T>A (n.*1553T>A)
c.*1874T>A (n.*1874T>A)
n.3401T>A
c.1634T>A (p.Val545Glu)
c.1877T>A (p.Val626Glu)
c.*957T>A (n.*957T>A)
c.1640T>A (p.Val547Glu)
c.1901T>A (p.Val634Glu)
c.2000T>A (p.Val667Glu)
n.4186T>A
n.1429T>A
c.107T>A (p.Val36Glu)
n.453T>A
c.*802T>A (n.*802T>A)
c.1883T>A (p.Val628Glu)
c.2006T>A (p.Val669Glu)
c.1739T>A (p.Val580Glu)
c.1733T>A (p.Val578Glu)
c.1616T>A (p.Val539Glu)
c.1994T>A (p.Val665Glu)
c.1727T>A (p.Val576Glu)
c.935T>A (p.Val312Glu)
n.2180T>A
ClinVar dbSNP gnomAD v4
8g.38414850C>ACA370730392FGFR1c.1906G>T (p.Val636Leu)
c.1894G>T (p.Val632Leu)
n.2799G>T
n.728G>T
n.596G>T
c.2086G>T (p.Val696Leu)
n.2594G>T
c.1627G>T (p.Val543Leu)
c.*1552G>T (n.*1552G>T)
c.*1873G>T (n.*1873G>T)
n.3400G>T
c.1633G>T (p.Val545Leu)
c.1876G>T (p.Val626Leu)
c.*956G>T (n.*956G>T)
c.1639G>T (p.Val547Leu)
c.1900G>T (p.Val634Leu)
c.1999G>T (p.Val667Leu)
n.4185G>T
n.1428G>T
c.106G>T (p.Val36Leu)
n.452G>T
c.*801G>T (n.*801G>T)
c.1882G>T (p.Val628Leu)
c.2005G>T (p.Val669Leu)
c.1738G>T (p.Val580Leu)
c.1732G>T (p.Val578Leu)
c.1615G>T (p.Val539Leu)
c.1993G>T (p.Val665Leu)
c.1726G>T (p.Val576Leu)
c.934G>T (p.Val312Leu)
n.2179G>T
8g.38414850C>GCA370730394FGFR1c.1906G>C (p.Val636Leu)
c.1894G>C (p.Val632Leu)
n.2799G>C
n.728G>C
n.596G>C
c.2086G>C (p.Val696Leu)
n.2594G>C
c.1627G>C (p.Val543Leu)
c.*1552G>C (n.*1552G>C)
c.*1873G>C (n.*1873G>C)
n.3400G>C
c.1633G>C (p.Val545Leu)
c.1876G>C (p.Val626Leu)
c.*956G>C (n.*956G>C)
c.1639G>C (p.Val547Leu)
c.1900G>C (p.Val634Leu)
c.1999G>C (p.Val667Leu)
n.4185G>C
n.1428G>C
c.106G>C (p.Val36Leu)
n.452G>C
c.*801G>C (n.*801G>C)
c.1882G>C (p.Val628Leu)
c.2005G>C (p.Val669Leu)
c.1738G>C (p.Val580Leu)
c.1732G>C (p.Val578Leu)
c.1615G>C (p.Val539Leu)
c.1993G>C (p.Val665Leu)
c.1726G>C (p.Val576Leu)
c.934G>C (p.Val312Leu)
n.2179G>C
dbSNP
8g.38414850C>TCA370730395FGFR1c.1906G>A (p.Val636Met)
c.1894G>A (p.Val632Met)
n.2799G>A
n.728G>A
n.596G>A
c.2086G>A (p.Val696Met)
n.2594G>A
c.1627G>A (p.Val543Met)
c.*1552G>A (n.*1552G>A)
c.*1873G>A (n.*1873G>A)
n.3400G>A
c.1633G>A (p.Val545Met)
c.1876G>A (p.Val626Met)
c.*956G>A (n.*956G>A)
c.1639G>A (p.Val547Met)
c.1900G>A (p.Val634Met)
c.1999G>A (p.Val667Met)
n.4185G>A
n.1428G>A
c.106G>A (p.Val36Met)
n.452G>A
c.*801G>A (n.*801G>A)
c.1882G>A (p.Val628Met)
c.2005G>A (p.Val669Met)
c.1738G>A (p.Val580Met)
c.1732G>A (p.Val578Met)
c.1615G>A (p.Val539Met)
c.1993G>A (p.Val665Met)
c.1726G>A (p.Val576Met)
c.934G>A (p.Val312Met)
n.2179G>A
dbSNP gnomAD v4
8g.38414851A=CA1777534791FGFR1c.1905T= (p.Asn635=)
c.1893T= (p.Asn631=)
n.2798T=
n.727T=
n.595T=
c.2085T= (p.Asn695=)
n.2593T=
c.1626T= (p.Asn542=)
c.*1551T= (n.*1551T=)
c.*1872T= (n.*1872T=)
n.3399T=
c.1632T= (p.Asn544=)
c.1875T= (p.Asn625=)
c.*955T= (n.*955T=)
c.1638T= (p.Asn546=)
c.1899T= (p.Asn633=)
c.1998T= (p.Asn666=)
n.4184T=
n.1427T=
c.105T= (p.Asn35=)
n.451T=
c.*800T= (n.*800T=)
c.1881T= (p.Asn627=)
c.2004T= (p.Asn668=)
c.1737T= (p.Asn579=)
c.1731T= (p.Asn577=)
c.1614T= (p.Asn538=)
c.1992T= (p.Asn664=)
c.1725T= (p.Asn575=)
c.933T= (p.Asn311=)
n.2178T=
8g.38414851A>CCA370730400FGFR1c.1905T>G (p.Asn635Lys)
c.1893T>G (p.Asn631Lys)
n.2798T>G
n.727T>G
n.595T>G
c.2085T>G (p.Asn695Lys)
n.2593T>G
c.1626T>G (p.Asn542Lys)
c.*1551T>G (n.*1551T>G)
c.*1872T>G (n.*1872T>G)
n.3399T>G
c.1632T>G (p.Asn544Lys)
c.1875T>G (p.Asn625Lys)
c.*955T>G (n.*955T>G)
c.1638T>G (p.Asn546Lys)
c.1899T>G (p.Asn633Lys)
c.1998T>G (p.Asn666Lys)
n.4184T>G
n.1427T>G
c.105T>G (p.Asn35Lys)
n.451T>G
c.*800T>G (n.*800T>G)
c.1881T>G (p.Asn627Lys)
c.2004T>G (p.Asn668Lys)
c.1737T>G (p.Asn579Lys)
c.1731T>G (p.Asn577Lys)
c.1614T>G (p.Asn538Lys)
c.1992T>G (p.Asn664Lys)
c.1725T>G (p.Asn575Lys)
c.933T>G (p.Asn311Lys)
n.2178T>G
8g.38414851A>GCA4718236FGFR1c.1905T>C (p.Asn635=)
c.1893T>C (p.Asn631=)
n.2798T>C
n.727T>C
n.595T>C
c.2085T>C (p.Asn695=)
n.2593T>C
c.1626T>C (p.Asn542=)
c.*1551T>C (n.*1551T>C)
c.*1872T>C (n.*1872T>C)
n.3399T>C
c.1632T>C (p.Asn544=)
c.1875T>C (p.Asn625=)
c.*955T>C (n.*955T>C)
c.1638T>C (p.Asn546=)
c.1899T>C (p.Asn633=)
c.1998T>C (p.Asn666=)
n.4184T>C
n.1427T>C
c.105T>C (p.Asn35=)
n.451T>C
c.*800T>C (n.*800T>C)
c.1881T>C (p.Asn627=)
c.2004T>C (p.Asn668=)
c.1737T>C (p.Asn579=)
c.1731T>C (p.Asn577=)
c.1614T>C (p.Asn538=)
c.1992T>C (p.Asn664=)
c.1725T>C (p.Asn575=)
c.933T>C (p.Asn311=)
n.2178T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38414851A>TCA370730398FGFR1c.1905T>A (p.Asn635Lys)
c.1893T>A (p.Asn631Lys)
n.2798T>A
n.727T>A
n.595T>A
c.2085T>A (p.Asn695Lys)
n.2593T>A
c.1626T>A (p.Asn542Lys)
c.*1551T>A (n.*1551T>A)
c.*1872T>A (n.*1872T>A)
n.3399T>A
c.1632T>A (p.Asn544Lys)
c.1875T>A (p.Asn625Lys)
c.*955T>A (n.*955T>A)
c.1638T>A (p.Asn546Lys)
c.1899T>A (p.Asn633Lys)
c.1998T>A (p.Asn666Lys)
n.4184T>A
n.1427T>A
c.105T>A (p.Asn35Lys)
n.451T>A
c.*800T>A (n.*800T>A)
c.1881T>A (p.Asn627Lys)
c.2004T>A (p.Asn668Lys)
c.1737T>A (p.Asn579Lys)
c.1731T>A (p.Asn577Lys)
c.1614T>A (p.Asn538Lys)
c.1992T>A (p.Asn664Lys)
c.1725T>A (p.Asn575Lys)
c.933T>A (p.Asn311Lys)
n.2178T>A
8g.38414852T>ACA4718238FGFR1c.1904A>T (p.Asn635Ile)
c.1892A>T (p.Asn631Ile)
n.2797A>T
n.726A>T
n.594A>T
c.2084A>T (p.Asn695Ile)
n.2592A>T
c.1625A>T (p.Asn542Ile)
c.*1550A>T (n.*1550A>T)
c.*1871A>T (n.*1871A>T)
n.3398A>T
c.1631A>T (p.Asn544Ile)
c.1874A>T (p.Asn625Ile)
c.*954A>T (n.*954A>T)
c.1637A>T (p.Asn546Ile)
c.1898A>T (p.Asn633Ile)
c.1997A>T (p.Asn666Ile)
n.4183A>T
n.1426A>T
c.104A>T (p.Asn35Ile)
n.450A>T
c.*799A>T (n.*799A>T)
c.1880A>T (p.Asn627Ile)
c.2003A>T (p.Asn668Ile)
c.1736A>T (p.Asn579Ile)
c.1730A>T (p.Asn577Ile)
c.1613A>T (p.Asn538Ile)
c.1991A>T (p.Asn664Ile)
c.1724A>T (p.Asn575Ile)
c.932A>T (p.Asn311Ile)
n.2177A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38414852T>CCA4718237FGFR1c.1904A>G (p.Asn635Ser)
c.1892A>G (p.Asn631Ser)
n.2797A>G
n.726A>G
n.594A>G
c.2084A>G (p.Asn695Ser)
n.2592A>G
c.1625A>G (p.Asn542Ser)
c.*1550A>G (n.*1550A>G)
c.*1871A>G (n.*1871A>G)
n.3398A>G
c.1631A>G (p.Asn544Ser)
c.1874A>G (p.Asn625Ser)
c.*954A>G (n.*954A>G)
c.1637A>G (p.Asn546Ser)
c.1898A>G (p.Asn633Ser)
c.1997A>G (p.Asn666Ser)
n.4183A>G
n.1426A>G
c.104A>G (p.Asn35Ser)
n.450A>G
c.*799A>G (n.*799A>G)
c.1880A>G (p.Asn627Ser)
c.2003A>G (p.Asn668Ser)
c.1736A>G (p.Asn579Ser)
c.1730A>G (p.Asn577Ser)
c.1613A>G (p.Asn538Ser)
c.1991A>G (p.Asn664Ser)
c.1724A>G (p.Asn575Ser)
c.932A>G (p.Asn311Ser)
n.2177A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38414852T>GCA370730404FGFR1c.1904A>C (p.Asn635Thr)
c.1892A>C (p.Asn631Thr)
n.2797A>C
n.726A>C
n.594A>C
c.2084A>C (p.Asn695Thr)
n.2592A>C
c.1625A>C (p.Asn542Thr)
c.*1550A>C (n.*1550A>C)
c.*1871A>C (n.*1871A>C)
n.3398A>C
c.1631A>C (p.Asn544Thr)
c.1874A>C (p.Asn625Thr)
c.*954A>C (n.*954A>C)
c.1637A>C (p.Asn546Thr)
c.1898A>C (p.Asn633Thr)
c.1997A>C (p.Asn666Thr)
n.4183A>C
n.1426A>C
c.104A>C (p.Asn35Thr)
n.450A>C
c.*799A>C (n.*799A>C)
c.1880A>C (p.Asn627Thr)
c.2003A>C (p.Asn668Thr)
c.1736A>C (p.Asn579Thr)
c.1730A>C (p.Asn577Thr)
c.1613A>C (p.Asn538Thr)
c.1991A>C (p.Asn664Thr)
c.1724A>C (p.Asn575Thr)
c.932A>C (p.Asn311Thr)
n.2177A>C
8g.38414852T=CA1777534793FGFR1c.1904A= (p.Asn635=)
c.1892A= (p.Asn631=)
n.2797A=
n.726A=
n.594A=
c.2084A= (p.Asn695=)
n.2592A=
c.1625A= (p.Asn542=)
c.*1550A= (n.*1550A=)
c.*1871A= (n.*1871A=)
n.3398A=
c.1631A= (p.Asn544=)
c.1874A= (p.Asn625=)
c.*954A= (n.*954A=)
c.1637A= (p.Asn546=)
c.1898A= (p.Asn633=)
c.1997A= (p.Asn666=)
n.4183A=
n.1426A=
c.104A= (p.Asn35=)
n.450A=
c.*799A= (n.*799A=)
c.1880A= (p.Asn627=)
c.2003A= (p.Asn668=)
c.1736A= (p.Asn579=)
c.1730A= (p.Asn577=)
c.1613A= (p.Asn538=)
c.1991A= (p.Asn664=)
c.1724A= (p.Asn575=)
c.932A= (p.Asn311=)
n.2177A=
8g.38414853T>ACA370730407FGFR1c.1903A>T (p.Asn635Tyr)
c.1891A>T (p.Asn631Tyr)
n.2796A>T
n.725A>T
n.593A>T
c.2083A>T (p.Asn695Tyr)
n.2591A>T
c.1624A>T (p.Asn542Tyr)
c.*1549A>T (n.*1549A>T)
c.*1870A>T (n.*1870A>T)
n.3397A>T
c.1630A>T (p.Asn544Tyr)
c.1873A>T (p.Asn625Tyr)
c.*953A>T (n.*953A>T)
c.1636A>T (p.Asn546Tyr)
c.1897A>T (p.Asn633Tyr)
c.1996A>T (p.Asn666Tyr)
n.4182A>T
n.1425A>T
c.103A>T (p.Asn35Tyr)
n.449A>T
c.*798A>T (n.*798A>T)
c.1879A>T (p.Asn627Tyr)
c.2002A>T (p.Asn668Tyr)
c.1735A>T (p.Asn579Tyr)
c.1729A>T (p.Asn577Tyr)
c.1612A>T (p.Asn538Tyr)
c.1990A>T (p.Asn664Tyr)
c.1723A>T (p.Asn575Tyr)
c.931A>T (p.Asn311Tyr)
n.2176A>T
8g.38414853T>CCA370730411FGFR1c.1903A>G (p.Asn635Asp)
c.1891A>G (p.Asn631Asp)
n.2796A>G
n.725A>G
n.593A>G
c.2083A>G (p.Asn695Asp)
n.2591A>G
c.1624A>G (p.Asn542Asp)
c.*1549A>G (n.*1549A>G)
c.*1870A>G (n.*1870A>G)
n.3397A>G
c.1630A>G (p.Asn544Asp)
c.1873A>G (p.Asn625Asp)
c.*953A>G (n.*953A>G)
c.1636A>G (p.Asn546Asp)
c.1897A>G (p.Asn633Asp)
c.1996A>G (p.Asn666Asp)
n.4182A>G
n.1425A>G
c.103A>G (p.Asn35Asp)
n.449A>G
c.*798A>G (n.*798A>G)
c.1879A>G (p.Asn627Asp)
c.2002A>G (p.Asn668Asp)
c.1735A>G (p.Asn579Asp)
c.1729A>G (p.Asn577Asp)
c.1612A>G (p.Asn538Asp)
c.1990A>G (p.Asn664Asp)
c.1723A>G (p.Asn575Asp)
c.931A>G (p.Asn311Asp)
n.2176A>G
8g.38414853T>GCA370730409FGFR1c.1903A>C (p.Asn635His)
c.1891A>C (p.Asn631His)
n.2796A>C
n.725A>C
n.593A>C
c.2083A>C (p.Asn695His)
n.2591A>C
c.1624A>C (p.Asn542His)
c.*1549A>C (n.*1549A>C)
c.*1870A>C (n.*1870A>C)
n.3397A>C
c.1630A>C (p.Asn544His)
c.1873A>C (p.Asn625His)
c.*953A>C (n.*953A>C)
c.1636A>C (p.Asn546His)
c.1897A>C (p.Asn633His)
c.1996A>C (p.Asn666His)
n.4182A>C
n.1425A>C
c.103A>C (p.Asn35His)
n.449A>C
c.*798A>C (n.*798A>C)
c.1879A>C (p.Asn627His)
c.2002A>C (p.Asn668His)
c.1735A>C (p.Asn579His)
c.1729A>C (p.Asn577His)
c.1612A>C (p.Asn538His)
c.1990A>C (p.Asn664His)
c.1723A>C (p.Asn575His)
c.931A>C (p.Asn311His)
n.2176A>C
8g.38414854G>ACA460395859FGFR1c.1902C>T (p.Asp634=)
c.1890C>T (p.Asp630=)
n.2795C>T
n.724C>T
n.592C>T
c.2082C>T (p.Asp694=)
n.2590C>T
c.1623C>T (p.Asp541=)
c.*1548C>T (n.*1548C>T)
c.*1869C>T (n.*1869C>T)
n.3396C>T
c.1629C>T (p.Asp543=)
c.1872C>T (p.Asp624=)
c.*952C>T (n.*952C>T)
c.1635C>T (p.Asp545=)
c.1896C>T (p.Asp632=)
c.1995C>T (p.Asp665=)
n.4181C>T
n.1424C>T
c.102C>T (p.Asp34=)
n.448C>T
c.*797C>T (n.*797C>T)
c.1878C>T (p.Asp626=)
c.2001C>T (p.Asp667=)
c.1734C>T (p.Asp578=)
c.1728C>T (p.Asp576=)
c.1611C>T (p.Asp537=)
c.1989C>T (p.Asp663=)
c.1722C>T (p.Asp574=)
c.930C>T (p.Asp310=)
n.2175C>T
8g.38414854G>CCA370730413FGFR1c.1902C>G (p.Asp634Glu)
c.1890C>G (p.Asp630Glu)
n.2795C>G
n.724C>G
n.592C>G
c.2082C>G (p.Asp694Glu)
n.2590C>G
c.1623C>G (p.Asp541Glu)
c.*1548C>G (n.*1548C>G)
c.*1869C>G (n.*1869C>G)
n.3396C>G
c.1629C>G (p.Asp543Glu)
c.1872C>G (p.Asp624Glu)
c.*952C>G (n.*952C>G)
c.1635C>G (p.Asp545Glu)
c.1896C>G (p.Asp632Glu)
c.1995C>G (p.Asp665Glu)
n.4181C>G
n.1424C>G
c.102C>G (p.Asp34Glu)
n.448C>G
c.*797C>G (n.*797C>G)
c.1878C>G (p.Asp626Glu)
c.2001C>G (p.Asp667Glu)
c.1734C>G (p.Asp578Glu)
c.1728C>G (p.Asp576Glu)
c.1611C>G (p.Asp537Glu)
c.1989C>G (p.Asp663Glu)
c.1722C>G (p.Asp574Glu)
c.930C>G (p.Asp310Glu)
n.2175C>G
COSMIC COSMIC COSMIC COSMIC COSMIC
8g.38414854G>TCA370730415FGFR1c.1902C>A (p.Asp634Glu)
c.1890C>A (p.Asp630Glu)
n.2795C>A
n.724C>A
n.592C>A
c.2082C>A (p.Asp694Glu)
n.2590C>A
c.1623C>A (p.Asp541Glu)
c.*1548C>A (n.*1548C>A)
c.*1869C>A (n.*1869C>A)
n.3396C>A
c.1629C>A (p.Asp543Glu)
c.1872C>A (p.Asp624Glu)
c.*952C>A (n.*952C>A)
c.1635C>A (p.Asp545Glu)
c.1896C>A (p.Asp632Glu)
c.1995C>A (p.Asp665Glu)
n.4181C>A
n.1424C>A
c.102C>A (p.Asp34Glu)
n.448C>A
c.*797C>A (n.*797C>A)
c.1878C>A (p.Asp626Glu)
c.2001C>A (p.Asp667Glu)
c.1734C>A (p.Asp578Glu)
c.1728C>A (p.Asp576Glu)
c.1611C>A (p.Asp537Glu)
c.1989C>A (p.Asp663Glu)
c.1722C>A (p.Asp574Glu)
c.930C>A (p.Asp310Glu)
n.2175C>A
8g.38414855T>ACA370730417FGFR1c.1901A>T (p.Asp634Val)
c.1889A>T (p.Asp630Val)
n.2794A>T
n.723A>T
n.591A>T
c.2081A>T (p.Asp694Val)
n.2589A>T
c.1622A>T (p.Asp541Val)
c.*1547A>T (n.*1547A>T)
c.*1868A>T (n.*1868A>T)
n.3395A>T
c.1628A>T (p.Asp543Val)
c.1871A>T (p.Asp624Val)
c.*951A>T (n.*951A>T)
c.1634A>T (p.Asp545Val)
c.1895A>T (p.Asp632Val)
c.1994A>T (p.Asp665Val)
n.4180A>T
n.1423A>T
c.101A>T (p.Asp34Val)
n.447A>T
c.*796A>T (n.*796A>T)
c.1877A>T (p.Asp626Val)
c.2000A>T (p.Asp667Val)
c.1733A>T (p.Asp578Val)
c.1727A>T (p.Asp576Val)
c.1610A>T (p.Asp537Val)
c.1988A>T (p.Asp663Val)
c.1721A>T (p.Asp574Val)
c.929A>T (p.Asp310Val)
n.2174A>T
dbSNP
8g.38414855T>CCA370730420FGFR1c.1901A>G (p.Asp634Gly)
c.1889A>G (p.Asp630Gly)
n.2794A>G
n.723A>G
n.591A>G
c.2081A>G (p.Asp694Gly)
n.2589A>G
c.1622A>G (p.Asp541Gly)
c.*1547A>G (n.*1547A>G)
c.*1868A>G (n.*1868A>G)
n.3395A>G
c.1628A>G (p.Asp543Gly)
c.1871A>G (p.Asp624Gly)
c.*951A>G (n.*951A>G)
c.1634A>G (p.Asp545Gly)
c.1895A>G (p.Asp632Gly)
c.1994A>G (p.Asp665Gly)
n.4180A>G
n.1423A>G
c.101A>G (p.Asp34Gly)
n.447A>G
c.*796A>G (n.*796A>G)
c.1877A>G (p.Asp626Gly)
c.2000A>G (p.Asp667Gly)
c.1733A>G (p.Asp578Gly)
c.1727A>G (p.Asp576Gly)
c.1610A>G (p.Asp537Gly)
c.1988A>G (p.Asp663Gly)
c.1721A>G (p.Asp574Gly)
c.929A>G (p.Asp310Gly)
n.2174A>G
8g.38414855T>GCA370730422FGFR1c.1901A>C (p.Asp634Ala)
c.1889A>C (p.Asp630Ala)
n.2794A>C
n.723A>C
n.591A>C
c.2081A>C (p.Asp694Ala)
n.2589A>C
c.1622A>C (p.Asp541Ala)
c.*1547A>C (n.*1547A>C)
c.*1868A>C (n.*1868A>C)
n.3395A>C
c.1628A>C (p.Asp543Ala)
c.1871A>C (p.Asp624Ala)
c.*951A>C (n.*951A>C)
c.1634A>C (p.Asp545Ala)
c.1895A>C (p.Asp632Ala)
c.1994A>C (p.Asp665Ala)
n.4180A>C
n.1423A>C
c.101A>C (p.Asp34Ala)
n.447A>C
c.*796A>C (n.*796A>C)
c.1877A>C (p.Asp626Ala)
c.2000A>C (p.Asp667Ala)
c.1733A>C (p.Asp578Ala)
c.1727A>C (p.Asp576Ala)
c.1610A>C (p.Asp537Ala)
c.1988A>C (p.Asp663Ala)
c.1721A>C (p.Asp574Ala)
c.929A>C (p.Asp310Ala)
n.2174A>C
8g.38414856C>ACA370730425FGFR1c.1900G>T (p.Asp634Tyr)
c.1888G>T (p.Asp630Tyr)
n.2793G>T
n.722G>T
n.590G>T
c.2080G>T (p.Asp694Tyr)
n.2588G>T
c.1621G>T (p.Asp541Tyr)
c.*1546G>T (n.*1546G>T)
c.*1867G>T (n.*1867G>T)
n.3394G>T
c.1627G>T (p.Asp543Tyr)
c.1870G>T (p.Asp624Tyr)
c.*950G>T (n.*950G>T)
c.1633G>T (p.Asp545Tyr)
c.1894G>T (p.Asp632Tyr)
c.1993G>T (p.Asp665Tyr)
n.4179G>T
n.1422G>T
c.100G>T (p.Asp34Tyr)
n.446G>T
c.*795G>T (n.*795G>T)
c.1876G>T (p.Asp626Tyr)
c.1999G>T (p.Asp667Tyr)
c.1732G>T (p.Asp578Tyr)
c.1726G>T (p.Asp576Tyr)
c.1609G>T (p.Asp537Tyr)
c.1987G>T (p.Asp663Tyr)
c.1720G>T (p.Asp574Tyr)
c.928G>T (p.Asp310Tyr)
n.2173G>T
dbSNP
8g.38414856C>GCA370730428FGFR1c.1900G>C (p.Asp634His)
c.1888G>C (p.Asp630His)
n.2793G>C
n.722G>C
n.590G>C
c.2080G>C (p.Asp694His)
n.2588G>C
c.1621G>C (p.Asp541His)
c.*1546G>C (n.*1546G>C)
c.*1867G>C (n.*1867G>C)
n.3394G>C
c.1627G>C (p.Asp543His)
c.1870G>C (p.Asp624His)
c.*950G>C (n.*950G>C)
c.1633G>C (p.Asp545His)
c.1894G>C (p.Asp632His)
c.1993G>C (p.Asp665His)
n.4179G>C
n.1422G>C
c.100G>C (p.Asp34His)
n.446G>C
c.*795G>C (n.*795G>C)
c.1876G>C (p.Asp626His)
c.1999G>C (p.Asp667His)
c.1732G>C (p.Asp578His)
c.1726G>C (p.Asp576His)
c.1609G>C (p.Asp537His)
c.1987G>C (p.Asp663His)
c.1720G>C (p.Asp574His)
c.928G>C (p.Asp310His)
n.2173G>C
dbSNP gnomAD v4
8g.38414856C>TCA370730430FGFR1c.1900G>A (p.Asp634Asn)
c.1888G>A (p.Asp630Asn)
n.2793G>A
n.722G>A
n.590G>A
c.2080G>A (p.Asp694Asn)
n.2588G>A
c.1621G>A (p.Asp541Asn)
c.*1546G>A (n.*1546G>A)
c.*1867G>A (n.*1867G>A)
n.3394G>A
c.1627G>A (p.Asp543Asn)
c.1870G>A (p.Asp624Asn)
c.*950G>A (n.*950G>A)
c.1633G>A (p.Asp545Asn)
c.1894G>A (p.Asp632Asn)
c.1993G>A (p.Asp665Asn)
n.4179G>A
n.1422G>A
c.100G>A (p.Asp34Asn)
n.446G>A
c.*795G>A (n.*795G>A)
c.1876G>A (p.Asp626Asn)
c.1999G>A (p.Asp667Asn)
c.1732G>A (p.Asp578Asn)
c.1726G>A (p.Asp576Asn)
c.1609G>A (p.Asp537Asn)
c.1987G>A (p.Asp663Asn)
c.1720G>A (p.Asp574Asn)
c.928G>A (p.Asp310Asn)
n.2173G>A
ClinVar dbSNP
8g.38414856_38414858delinsCCTCA1777534794FGFR1c.1898_1900delinsAGG (p.Glu633=)
c.1886_1888delinsAGG (p.Glu629=)
n.2791_2793delinsAGG
n.720_722delinsAGG
n.588_590delinsAGG
c.2078_2080delinsAGG (p.Glu693=)
n.2586_2588delinsAGG
c.1619_1621delinsAGG (p.Glu540=)
c.*1544_*1546delinsAGG (n.*1544_*1546delinsAGG)
c.*1865_*1867delinsAGG (n.*1865_*1867delinsAGG)
n.3392_3394delinsAGG
c.1625_1627delinsAGG (p.Glu542=)
c.1868_1870delinsAGG (p.Glu623=)
c.*948_*950delinsAGG (n.*948_*950delinsAGG)
c.1631_1633delinsAGG (p.Glu544=)
c.1892_1894delinsAGG (p.Glu631=)
c.1991_1993delinsAGG (p.Glu664=)
n.4177_4179delinsAGG
n.1420_1422delinsAGG
c.98_100delinsAGG (p.Glu33=)
n.444_446delinsAGG
c.*793_*795delinsAGG (n.*793_*795delinsAGG)
c.1874_1876delinsAGG (p.Glu625=)
c.1997_1999delinsAGG (p.Glu666=)
c.1730_1732delinsAGG (p.Glu577=)
c.1724_1726delinsAGG (p.Glu575=)
c.1607_1609delinsAGG (p.Glu536=)
c.1985_1987delinsAGG (p.Glu662=)
c.1718_1720delinsAGG (p.Glu573=)
c.926_928delinsAGG (p.Glu309=)
n.2171_2173delinsAGG
8g.38414857C>ACA370730433FGFR1c.1899G>T (p.Glu633Asp)
c.1887G>T (p.Glu629Asp)
n.2792G>T
n.721G>T
n.589G>T
c.2079G>T (p.Glu693Asp)
n.2587G>T
c.1620G>T (p.Glu540Asp)
c.*1545G>T (n.*1545G>T)
c.*1866G>T (n.*1866G>T)
n.3393G>T
c.1626G>T (p.Glu542Asp)
c.1869G>T (p.Glu623Asp)
c.*949G>T (n.*949G>T)
c.1632G>T (p.Glu544Asp)
c.1893G>T (p.Glu631Asp)
c.1992G>T (p.Glu664Asp)
n.4178G>T
n.1421G>T
c.99G>T (p.Glu33Asp)
n.445G>T
c.*794G>T (n.*794G>T)
c.1875G>T (p.Glu625Asp)
c.1998G>T (p.Glu666Asp)
c.1731G>T (p.Glu577Asp)
c.1725G>T (p.Glu575Asp)
c.1608G>T (p.Glu536Asp)
c.1986G>T (p.Glu662Asp)
c.1719G>T (p.Glu573Asp)
c.927G>T (p.Glu309Asp)
n.2172G>T
8g.38414857C>GCA370730435FGFR1c.1899G>C (p.Glu633Asp)
c.1887G>C (p.Glu629Asp)
n.2792G>C
n.721G>C
n.589G>C
c.2079G>C (p.Glu693Asp)
n.2587G>C
c.1620G>C (p.Glu540Asp)
c.*1545G>C (n.*1545G>C)
c.*1866G>C (n.*1866G>C)
n.3393G>C
c.1626G>C (p.Glu542Asp)
c.1869G>C (p.Glu623Asp)
c.*949G>C (n.*949G>C)
c.1632G>C (p.Glu544Asp)
c.1893G>C (p.Glu631Asp)
c.1992G>C (p.Glu664Asp)
n.4178G>C
n.1421G>C
c.99G>C (p.Glu33Asp)
n.445G>C
c.*794G>C (n.*794G>C)
c.1875G>C (p.Glu625Asp)
c.1998G>C (p.Glu666Asp)
c.1731G>C (p.Glu577Asp)
c.1725G>C (p.Glu575Asp)
c.1608G>C (p.Glu536Asp)
c.1986G>C (p.Glu662Asp)
c.1719G>C (p.Glu573Asp)
c.927G>C (p.Glu309Asp)
n.2172G>C
8g.38414857C>TCA460395864FGFR1c.1899G>A (p.Glu633=)
c.1887G>A (p.Glu629=)
n.2792G>A
n.721G>A
n.589G>A
c.2079G>A (p.Glu693=)
n.2587G>A
c.1620G>A (p.Glu540=)
c.*1545G>A (n.*1545G>A)
c.*1866G>A (n.*1866G>A)
n.3393G>A
c.1626G>A (p.Glu542=)
c.1869G>A (p.Glu623=)
c.*949G>A (n.*949G>A)
c.1632G>A (p.Glu544=)
c.1893G>A (p.Glu631=)
c.1992G>A (p.Glu664=)
n.4178G>A
n.1421G>A
c.99G>A (p.Glu33=)
n.445G>A
c.*794G>A (n.*794G>A)
c.1875G>A (p.Glu625=)
c.1998G>A (p.Glu666=)
c.1731G>A (p.Glu577=)
c.1725G>A (p.Glu575=)
c.1608G>A (p.Glu536=)
c.1986G>A (p.Glu662=)
c.1719G>A (p.Glu573=)
c.927G>A (p.Glu309=)
n.2172G>A
dbSNP
8g.38414859_38414860delCA1777534796FGFR1c.1898_1899del (p.Glu633GlyfsTer22)
c.1886_1887del (p.Glu629GlyfsTer22)
n.2791_2792del
n.720_721del
n.588_589del
c.2078_2079del (p.Glu693GlyfsTer22)
n.2586_2587del
c.1619_1620del (p.Glu540GlyfsTer22)
c.*1544_*1545del (n.*1544_*1545del)
c.*1865_*1866del (n.*1865_*1866del)
n.3392_3393del
c.1625_1626del (p.Glu542GlyfsTer22)
c.1868_1869del (p.Glu623GlyfsTer22)
c.*948_*949del (n.*948_*949del)
c.1631_1632del (p.Glu544GlyfsTer22)
c.1892_1893del (p.Glu631GlyfsTer22)
c.1991_1992del (p.Glu664GlyfsTer22)
n.4177_4178del
n.1420_1421del
c.98_99del (p.Glu33GlyfsTer22)
n.444_445del
c.*793_*794del (n.*793_*794del)
c.1874_1875del (p.Glu625GlyfsTer22)
c.1997_1998del (p.Glu666GlyfsTer22)
c.1730_1731del (p.Glu577GlyfsTer22)
c.1724_1725del (p.Glu575GlyfsTer22)
c.1607_1608del (p.Glu536GlyfsTer22)
c.1985_1986del (p.Glu662GlyfsTer22)
c.1718_1719del (p.Glu573GlyfsTer22)
c.926_927del (p.Glu309GlyfsTer22)
n.2171_2172del
ClinVar dbSNP
8g.38414858T>ACA370730437FGFR1c.1898A>T (p.Glu633Val)
c.1886A>T (p.Glu629Val)
n.2791A>T
n.720A>T
n.588A>T
c.2078A>T (p.Glu693Val)
n.2586A>T
c.1619A>T (p.Glu540Val)
c.*1544A>T (n.*1544A>T)
c.*1865A>T (n.*1865A>T)
n.3392A>T
c.1625A>T (p.Glu542Val)
c.1868A>T (p.Glu623Val)
c.*948A>T (n.*948A>T)
c.1631A>T (p.Glu544Val)
c.1892A>T (p.Glu631Val)
c.1991A>T (p.Glu664Val)
n.4177A>T
n.1420A>T
c.98A>T (p.Glu33Val)
n.444A>T
c.*793A>T (n.*793A>T)
c.1874A>T (p.Glu625Val)
c.1997A>T (p.Glu666Val)
c.1730A>T (p.Glu577Val)
c.1724A>T (p.Glu575Val)
c.1607A>T (p.Glu536Val)
c.1985A>T (p.Glu662Val)
c.1718A>T (p.Glu573Val)
c.926A>T (p.Glu309Val)
n.2171A>T
dbSNP
8g.38414858T>CCA370730438FGFR1c.1898A>G (p.Glu633Gly)
c.1886A>G (p.Glu629Gly)
n.2791A>G
n.720A>G
n.588A>G
c.2078A>G (p.Glu693Gly)
n.2586A>G
c.1619A>G (p.Glu540Gly)
c.*1544A>G (n.*1544A>G)
c.*1865A>G (n.*1865A>G)
n.3392A>G
c.1625A>G (p.Glu542Gly)
c.1868A>G (p.Glu623Gly)
c.*948A>G (n.*948A>G)
c.1631A>G (p.Glu544Gly)
c.1892A>G (p.Glu631Gly)
c.1991A>G (p.Glu664Gly)
n.4177A>G
n.1420A>G
c.98A>G (p.Glu33Gly)
n.444A>G
c.*793A>G (n.*793A>G)
c.1874A>G (p.Glu625Gly)
c.1997A>G (p.Glu666Gly)
c.1730A>G (p.Glu577Gly)
c.1724A>G (p.Glu575Gly)
c.1607A>G (p.Glu536Gly)
c.1985A>G (p.Glu662Gly)
c.1718A>G (p.Glu573Gly)
c.926A>G (p.Glu309Gly)
n.2171A>G
dbSNP
8g.38414858T>GCA370730441FGFR1c.1898A>C (p.Glu633Ala)
c.1886A>C (p.Glu629Ala)
n.2791A>C
n.720A>C
n.588A>C
c.2078A>C (p.Glu693Ala)
n.2586A>C
c.1619A>C (p.Glu540Ala)
c.*1544A>C (n.*1544A>C)
c.*1865A>C (n.*1865A>C)
n.3392A>C
c.1625A>C (p.Glu542Ala)
c.1868A>C (p.Glu623Ala)
c.*948A>C (n.*948A>C)
c.1631A>C (p.Glu544Ala)
c.1892A>C (p.Glu631Ala)
c.1991A>C (p.Glu664Ala)
n.4177A>C
n.1420A>C
c.98A>C (p.Glu33Ala)
n.444A>C
c.*793A>C (n.*793A>C)
c.1874A>C (p.Glu625Ala)
c.1997A>C (p.Glu666Ala)
c.1730A>C (p.Glu577Ala)
c.1724A>C (p.Glu575Ala)
c.1607A>C (p.Glu536Ala)
c.1985A>C (p.Glu662Ala)
c.1718A>C (p.Glu573Ala)
c.926A>C (p.Glu309Ala)
n.2171A>C
dbSNP
8g.38414859C>ACA370730445FGFR1c.1897G>T (p.Glu633Ter)
c.1885G>T (p.Glu629Ter)
n.2790G>T
n.719G>T
n.587G>T
c.2077G>T (p.Glu693Ter)
n.2585G>T
c.1618G>T (p.Glu540Ter)
c.*1543G>T (n.*1543G>T)
c.*1864G>T (n.*1864G>T)
n.3391G>T
c.1624G>T (p.Glu542Ter)
c.1867G>T (p.Glu623Ter)
c.*947G>T (n.*947G>T)
c.1630G>T (p.Glu544Ter)
c.1891G>T (p.Glu631Ter)
c.1990G>T (p.Glu664Ter)
n.4176G>T
n.1419G>T
c.97G>T (p.Glu33Ter)
n.443G>T
c.*792G>T (n.*792G>T)
c.1873G>T (p.Glu625Ter)
c.1996G>T (p.Glu666Ter)
c.1729G>T (p.Glu577Ter)
c.1723G>T (p.Glu575Ter)
c.1606G>T (p.Glu536Ter)
c.1984G>T (p.Glu662Ter)
c.1717G>T (p.Glu573Ter)
c.925G>T (p.Glu309Ter)
n.2170G>T
dbSNP
8g.38414859C>GCA370730449FGFR1c.1897G>C (p.Glu633Gln)
c.1885G>C (p.Glu629Gln)
n.2790G>C
n.719G>C
n.587G>C
c.2077G>C (p.Glu693Gln)
n.2585G>C
c.1618G>C (p.Glu540Gln)
c.*1543G>C (n.*1543G>C)
c.*1864G>C (n.*1864G>C)
n.3391G>C
c.1624G>C (p.Glu542Gln)
c.1867G>C (p.Glu623Gln)
c.*947G>C (n.*947G>C)
c.1630G>C (p.Glu544Gln)
c.1891G>C (p.Glu631Gln)
c.1990G>C (p.Glu664Gln)
n.4176G>C
n.1419G>C
c.97G>C (p.Glu33Gln)
n.443G>C
c.*792G>C (n.*792G>C)
c.1873G>C (p.Glu625Gln)
c.1996G>C (p.Glu666Gln)
c.1729G>C (p.Glu577Gln)
c.1723G>C (p.Glu575Gln)
c.1606G>C (p.Glu536Gln)
c.1984G>C (p.Glu662Gln)
c.1717G>C (p.Glu573Gln)
c.925G>C (p.Glu309Gln)
n.2170G>C
dbSNP
8g.38414859C>TCA370730447FGFR1c.1897G>A (p.Glu633Lys)
c.1885G>A (p.Glu629Lys)
n.2790G>A
n.719G>A
n.587G>A
c.2077G>A (p.Glu693Lys)
n.2585G>A
c.1618G>A (p.Glu540Lys)
c.*1543G>A (n.*1543G>A)
c.*1864G>A (n.*1864G>A)
n.3391G>A
c.1624G>A (p.Glu542Lys)
c.1867G>A (p.Glu623Lys)
c.*947G>A (n.*947G>A)
c.1630G>A (p.Glu544Lys)
c.1891G>A (p.Glu631Lys)
c.1990G>A (p.Glu664Lys)
n.4176G>A
n.1419G>A
c.97G>A (p.Glu33Lys)
n.443G>A
c.*792G>A (n.*792G>A)
c.1873G>A (p.Glu625Lys)
c.1996G>A (p.Glu666Lys)
c.1729G>A (p.Glu577Lys)
c.1723G>A (p.Glu575Lys)
c.1606G>A (p.Glu536Lys)
c.1984G>A (p.Glu662Lys)
c.1717G>A (p.Glu573Lys)
c.925G>A (p.Glu309Lys)
n.2170G>A
dbSNP
8g.38414860T>ACA460395866FGFR1c.1896A>T (p.Thr632=)
c.1884A>T (p.Thr628=)
n.2789A>T
n.718A>T
n.586A>T
c.2076A>T (p.Thr692=)
n.2584A>T
c.1617A>T (p.Thr539=)
c.*1542A>T (n.*1542A>T)
c.*1863A>T (n.*1863A>T)
n.3390A>T
c.1623A>T (p.Thr541=)
c.1866A>T (p.Thr622=)
c.*946A>T (n.*946A>T)
c.1629A>T (p.Thr543=)
c.1890A>T (p.Thr630=)
c.1989A>T (p.Thr663=)
n.4175A>T
n.1418A>T
c.96A>T (p.Thr32=)
n.442A>T
c.*791A>T (n.*791A>T)
c.1872A>T (p.Thr624=)
c.1995A>T (p.Thr665=)
c.1728A>T (p.Thr576=)
c.1722A>T (p.Thr574=)
c.1605A>T (p.Thr535=)
c.1983A>T (p.Thr661=)
c.1716A>T (p.Thr572=)
c.924A>T (p.Thr308=)
n.2169A>T
8g.38414860T>CCA460395867FGFR1c.1896A>G (p.Thr632=)
c.1884A>G (p.Thr628=)
n.2789A>G
n.718A>G
n.586A>G
c.2076A>G (p.Thr692=)
n.2584A>G
c.1617A>G (p.Thr539=)
c.*1542A>G (n.*1542A>G)
c.*1863A>G (n.*1863A>G)
n.3390A>G
c.1623A>G (p.Thr541=)
c.1866A>G (p.Thr622=)
c.*946A>G (n.*946A>G)
c.1629A>G (p.Thr543=)
c.1890A>G (p.Thr630=)
c.1989A>G (p.Thr663=)
n.4175A>G
n.1418A>G
c.96A>G (p.Thr32=)
n.442A>G
c.*791A>G (n.*791A>G)
c.1872A>G (p.Thr624=)
c.1995A>G (p.Thr665=)
c.1728A>G (p.Thr576=)
c.1722A>G (p.Thr574=)
c.1605A>G (p.Thr535=)
c.1983A>G (p.Thr661=)
c.1716A>G (p.Thr572=)
c.924A>G (p.Thr308=)
n.2169A>G
8g.38414860T>GCA460395868FGFR1c.1896A>C (p.Thr632=)
c.1884A>C (p.Thr628=)
n.2789A>C
n.718A>C
n.586A>C
c.2076A>C (p.Thr692=)
n.2584A>C
c.1617A>C (p.Thr539=)
c.*1542A>C (n.*1542A>C)
c.*1863A>C (n.*1863A>C)
n.3390A>C
c.1623A>C (p.Thr541=)
c.1866A>C (p.Thr622=)
c.*946A>C (n.*946A>C)
c.1629A>C (p.Thr543=)
c.1890A>C (p.Thr630=)
c.1989A>C (p.Thr663=)
n.4175A>C
n.1418A>C
c.96A>C (p.Thr32=)
n.442A>C
c.*791A>C (n.*791A>C)
c.1872A>C (p.Thr624=)
c.1995A>C (p.Thr665=)
c.1728A>C (p.Thr576=)
c.1722A>C (p.Thr574=)
c.1605A>C (p.Thr535=)
c.1983A>C (p.Thr661=)
c.1716A>C (p.Thr572=)
c.924A>C (p.Thr308=)
n.2169A>C
8g.38414861G>ACA370730453FGFR1c.1895C>T (p.Thr632Ile)
c.1883C>T (p.Thr628Ile)
n.2788C>T
n.717C>T
n.585C>T
c.2075C>T (p.Thr692Ile)
n.2583C>T
c.1616C>T (p.Thr539Ile)
c.*1541C>T (n.*1541C>T)
c.*1862C>T (n.*1862C>T)
n.3389C>T
c.1622C>T (p.Thr541Ile)
c.1865C>T (p.Thr622Ile)
c.*945C>T (n.*945C>T)
c.1628C>T (p.Thr543Ile)
c.1889C>T (p.Thr630Ile)
c.1988C>T (p.Thr663Ile)
n.4174C>T
n.1417C>T
c.95C>T (p.Thr32Ile)
n.441C>T
c.*790C>T (n.*790C>T)
c.1871C>T (p.Thr624Ile)
c.1994C>T (p.Thr665Ile)
c.1727C>T (p.Thr576Ile)
c.1721C>T (p.Thr574Ile)
c.1604C>T (p.Thr535Ile)
c.1982C>T (p.Thr661Ile)
c.1715C>T (p.Thr572Ile)
c.923C>T (p.Thr308Ile)
n.2168C>T
8g.38414861G>CCA370730454FGFR1c.1895C>G (p.Thr632Arg)
c.1883C>G (p.Thr628Arg)
n.2788C>G
n.717C>G
n.585C>G
c.2075C>G (p.Thr692Arg)
n.2583C>G
c.1616C>G (p.Thr539Arg)
c.*1541C>G (n.*1541C>G)
c.*1862C>G (n.*1862C>G)
n.3389C>G
c.1622C>G (p.Thr541Arg)
c.1865C>G (p.Thr622Arg)
c.*945C>G (n.*945C>G)
c.1628C>G (p.Thr543Arg)
c.1889C>G (p.Thr630Arg)
c.1988C>G (p.Thr663Arg)
n.4174C>G
n.1417C>G
c.95C>G (p.Thr32Arg)
n.441C>G
c.*790C>G (n.*790C>G)
c.1871C>G (p.Thr624Arg)
c.1994C>G (p.Thr665Arg)
c.1727C>G (p.Thr576Arg)
c.1721C>G (p.Thr574Arg)
c.1604C>G (p.Thr535Arg)
c.1982C>G (p.Thr661Arg)
c.1715C>G (p.Thr572Arg)
c.923C>G (p.Thr308Arg)
n.2168C>G
dbSNP
8g.38414861G>TCA370730457FGFR1c.1895C>A (p.Thr632Lys)
c.1883C>A (p.Thr628Lys)
n.2788C>A
n.717C>A
n.585C>A
c.2075C>A (p.Thr692Lys)
n.2583C>A
c.1616C>A (p.Thr539Lys)
c.*1541C>A (n.*1541C>A)
c.*1862C>A (n.*1862C>A)
n.3389C>A
c.1622C>A (p.Thr541Lys)
c.1865C>A (p.Thr622Lys)
c.*945C>A (n.*945C>A)
c.1628C>A (p.Thr543Lys)
c.1889C>A (p.Thr630Lys)
c.1988C>A (p.Thr663Lys)
n.4174C>A
n.1417C>A
c.95C>A (p.Thr32Lys)
n.441C>A
c.*790C>A (n.*790C>A)
c.1871C>A (p.Thr624Lys)
c.1994C>A (p.Thr665Lys)
c.1727C>A (p.Thr576Lys)
c.1721C>A (p.Thr574Lys)
c.1604C>A (p.Thr535Lys)
c.1982C>A (p.Thr661Lys)
c.1715C>A (p.Thr572Lys)
c.923C>A (p.Thr308Lys)
n.2168C>A
8g.38414862T>ACA370730460FGFR1c.1894A>T (p.Thr632Ser)
c.1882A>T (p.Thr628Ser)
n.2787A>T
n.716A>T
n.584A>T
c.2074A>T (p.Thr692Ser)
n.2582A>T
c.1615A>T (p.Thr539Ser)
c.*1540A>T (n.*1540A>T)
c.*1861A>T (n.*1861A>T)
n.3388A>T
c.1621A>T (p.Thr541Ser)
c.1864A>T (p.Thr622Ser)
c.*944A>T (n.*944A>T)
c.1627A>T (p.Thr543Ser)
c.1888A>T (p.Thr630Ser)
c.1987A>T (p.Thr663Ser)
n.4173A>T
n.1416A>T
c.94A>T (p.Thr32Ser)
n.440A>T
c.*789A>T (n.*789A>T)
c.1870A>T (p.Thr624Ser)
c.1993A>T (p.Thr665Ser)
c.1726A>T (p.Thr576Ser)
c.1720A>T (p.Thr574Ser)
c.1603A>T (p.Thr535Ser)
c.1981A>T (p.Thr661Ser)
c.1714A>T (p.Thr572Ser)
c.922A>T (p.Thr308Ser)
n.2167A>T
dbSNP
8g.38414862T>CCA370730462FGFR1c.1894A>G (p.Thr632Ala)
c.1882A>G (p.Thr628Ala)
n.2787A>G
n.716A>G
n.584A>G
c.2074A>G (p.Thr692Ala)
n.2582A>G
c.1615A>G (p.Thr539Ala)
c.*1540A>G (n.*1540A>G)
c.*1861A>G (n.*1861A>G)
n.3388A>G
c.1621A>G (p.Thr541Ala)
c.1864A>G (p.Thr622Ala)
c.*944A>G (n.*944A>G)
c.1627A>G (p.Thr543Ala)
c.1888A>G (p.Thr630Ala)
c.1987A>G (p.Thr663Ala)
n.4173A>G
n.1416A>G
c.94A>G (p.Thr32Ala)
n.440A>G
c.*789A>G (n.*789A>G)
c.1870A>G (p.Thr624Ala)
c.1993A>G (p.Thr665Ala)
c.1726A>G (p.Thr576Ala)
c.1720A>G (p.Thr574Ala)
c.1603A>G (p.Thr535Ala)
c.1981A>G (p.Thr661Ala)
c.1714A>G (p.Thr572Ala)
c.922A>G (p.Thr308Ala)
n.2167A>G
dbSNP
8g.38414862T>GCA370730464FGFR1c.1894A>C (p.Thr632Pro)
c.1882A>C (p.Thr628Pro)
n.2787A>C
n.716A>C
n.584A>C
c.2074A>C (p.Thr692Pro)
n.2582A>C
c.1615A>C (p.Thr539Pro)
c.*1540A>C (n.*1540A>C)
c.*1861A>C (n.*1861A>C)
n.3388A>C
c.1621A>C (p.Thr541Pro)
c.1864A>C (p.Thr622Pro)
c.*944A>C (n.*944A>C)
c.1627A>C (p.Thr543Pro)
c.1888A>C (p.Thr630Pro)
c.1987A>C (p.Thr663Pro)
n.4173A>C
n.1416A>C
c.94A>C (p.Thr32Pro)
n.440A>C
c.*789A>C (n.*789A>C)
c.1870A>C (p.Thr624Pro)
c.1993A>C (p.Thr665Pro)
c.1726A>C (p.Thr576Pro)
c.1720A>C (p.Thr574Pro)
c.1603A>C (p.Thr535Pro)
c.1981A>C (p.Thr661Pro)
c.1714A>C (p.Thr572Pro)
c.922A>C (p.Thr308Pro)
n.2167A>C
dbSNP
8g.38414863C>ACA460395869FGFR1c.1893G>T (p.Val631=)
c.1881G>T (p.Val627=)
n.2786G>T
n.715G>T
n.583G>T
c.2073G>T (p.Val691=)
n.2581G>T
c.1614G>T (p.Val538=)
c.*1539G>T (n.*1539G>T)
c.*1860G>T (n.*1860G>T)
n.3387G>T
c.1620G>T (p.Val540=)
c.1863G>T (p.Val621=)
c.*943G>T (n.*943G>T)
c.1626G>T (p.Val542=)
c.1887G>T (p.Val629=)
c.1986G>T (p.Val662=)
n.4172G>T
n.1415G>T
c.93G>T (p.Val31=)
n.439G>T
c.*788G>T (n.*788G>T)
c.1869G>T (p.Val623=)
c.1992G>T (p.Val664=)
c.1725G>T (p.Val575=)
c.1719G>T (p.Val573=)
c.1602G>T (p.Val534=)
c.1980G>T (p.Val660=)
c.1713G>T (p.Val571=)
c.921G>T (p.Val307=)
n.2166G>T
8g.38414863C=CA1777534797FGFR1c.1893G= (p.Val631=)
c.1881G= (p.Val627=)
n.2786G=
n.715G=
n.583G=
c.2073G= (p.Val691=)
n.2581G=
c.1614G= (p.Val538=)
c.*1539G= (n.*1539G=)
c.*1860G= (n.*1860G=)
n.3387G=
c.1620G= (p.Val540=)
c.1863G= (p.Val621=)
c.*943G= (n.*943G=)
c.1626G= (p.Val542=)
c.1887G= (p.Val629=)
c.1986G= (p.Val662=)
n.4172G=
n.1415G=
c.93G= (p.Val31=)
n.439G=
c.*788G= (n.*788G=)
c.1869G= (p.Val623=)
c.1992G= (p.Val664=)
c.1725G= (p.Val575=)
c.1719G= (p.Val573=)
c.1602G= (p.Val534=)
c.1980G= (p.Val660=)
c.1713G= (p.Val571=)
c.921G= (p.Val307=)
n.2166G=
8g.38414863C>GCA460395870FGFR1c.1893G>C (p.Val631=)
c.1881G>C (p.Val627=)
n.2786G>C
n.715G>C
n.583G>C
c.2073G>C (p.Val691=)
n.2581G>C
c.1614G>C (p.Val538=)
c.*1539G>C (n.*1539G>C)
c.*1860G>C (n.*1860G>C)
n.3387G>C
c.1620G>C (p.Val540=)
c.1863G>C (p.Val621=)
c.*943G>C (n.*943G>C)
c.1626G>C (p.Val542=)
c.1887G>C (p.Val629=)
c.1986G>C (p.Val662=)
n.4172G>C
n.1415G>C
c.93G>C (p.Val31=)
n.439G>C
c.*788G>C (n.*788G>C)
c.1869G>C (p.Val623=)
c.1992G>C (p.Val664=)
c.1725G>C (p.Val575=)
c.1719G>C (p.Val573=)
c.1602G>C (p.Val534=)
c.1980G>C (p.Val660=)
c.1713G>C (p.Val571=)
c.921G>C (p.Val307=)
n.2166G>C
dbSNP
8g.38414863C>TCA460395872FGFR1c.1893G>A (p.Val631=)
c.1881G>A (p.Val627=)
n.2786G>A
n.715G>A
n.583G>A
c.2073G>A (p.Val691=)
n.2581G>A
c.1614G>A (p.Val538=)
c.*1539G>A (n.*1539G>A)
c.*1860G>A (n.*1860G>A)
n.3387G>A
c.1620G>A (p.Val540=)
c.1863G>A (p.Val621=)
c.*943G>A (n.*943G>A)
c.1626G>A (p.Val542=)
c.1887G>A (p.Val629=)
c.1986G>A (p.Val662=)
n.4172G>A
n.1415G>A
c.93G>A (p.Val31=)
n.439G>A
c.*788G>A (n.*788G>A)
c.1869G>A (p.Val623=)
c.1992G>A (p.Val664=)
c.1725G>A (p.Val575=)
c.1719G>A (p.Val573=)
c.1602G>A (p.Val534=)
c.1980G>A (p.Val660=)
c.1713G>A (p.Val571=)
c.921G>A (p.Val307=)
n.2166G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38414864A=CA1777534799FGFR1c.1892T= (p.Val631=)
c.1880T= (p.Val627=)
n.2785T=
n.714T=
n.582T=
c.2072T= (p.Val691=)
n.2580T=
c.1613T= (p.Val538=)
c.*1538T= (n.*1538T=)
c.*1859T= (n.*1859T=)
n.3386T=
c.1619T= (p.Val540=)
c.1862T= (p.Val621=)
c.*942T= (n.*942T=)
c.1625T= (p.Val542=)
c.1886T= (p.Val629=)
c.1985T= (p.Val662=)
n.4171T=
n.1414T=
c.92T= (p.Val31=)
n.438T=
c.*787T= (n.*787T=)
c.1868T= (p.Val623=)
c.1991T= (p.Val664=)
c.1724T= (p.Val575=)
c.1718T= (p.Val573=)
c.1601T= (p.Val534=)
c.1979T= (p.Val660=)
c.1712T= (p.Val571=)
c.920T= (p.Val307=)
n.2165T=
8g.38414864A>CCA370730466FGFR1c.1892T>G (p.Val631Gly)
c.1880T>G (p.Val627Gly)
n.2785T>G
n.714T>G
n.582T>G
c.2072T>G (p.Val691Gly)
n.2580T>G
c.1613T>G (p.Val538Gly)
c.*1538T>G (n.*1538T>G)
c.*1859T>G (n.*1859T>G)
n.3386T>G
c.1619T>G (p.Val540Gly)
c.1862T>G (p.Val621Gly)
c.*942T>G (n.*942T>G)
c.1625T>G (p.Val542Gly)
c.1886T>G (p.Val629Gly)
c.1985T>G (p.Val662Gly)
n.4171T>G
n.1414T>G
c.92T>G (p.Val31Gly)
n.438T>G
c.*787T>G (n.*787T>G)
c.1868T>G (p.Val623Gly)
c.1991T>G (p.Val664Gly)
c.1724T>G (p.Val575Gly)
c.1718T>G (p.Val573Gly)
c.1601T>G (p.Val534Gly)
c.1979T>G (p.Val660Gly)
c.1712T>G (p.Val571Gly)
c.920T>G (p.Val307Gly)
n.2165T>G
8g.38414864A>GCA370730467FGFR1c.1892T>C (p.Val631Ala)
c.1880T>C (p.Val627Ala)
n.2785T>C
n.714T>C
n.582T>C
c.2072T>C (p.Val691Ala)
n.2580T>C
c.1613T>C (p.Val538Ala)
c.*1538T>C (n.*1538T>C)
c.*1859T>C (n.*1859T>C)
n.3386T>C
c.1619T>C (p.Val540Ala)
c.1862T>C (p.Val621Ala)
c.*942T>C (n.*942T>C)
c.1625T>C (p.Val542Ala)
c.1886T>C (p.Val629Ala)
c.1985T>C (p.Val662Ala)
n.4171T>C
n.1414T>C
c.92T>C (p.Val31Ala)
n.438T>C
c.*787T>C (n.*787T>C)
c.1868T>C (p.Val623Ala)
c.1991T>C (p.Val664Ala)
c.1724T>C (p.Val575Ala)
c.1718T>C (p.Val573Ala)
c.1601T>C (p.Val534Ala)
c.1979T>C (p.Val660Ala)
c.1712T>C (p.Val571Ala)
c.920T>C (p.Val307Ala)
n.2165T>C
dbSNP gnomAD v4
8g.38414864A>TCA370730468FGFR1c.1892T>A (p.Val631Glu)
c.1880T>A (p.Val627Glu)
n.2785T>A
n.714T>A
n.582T>A
c.2072T>A (p.Val691Glu)
n.2580T>A
c.1613T>A (p.Val538Glu)
c.*1538T>A (n.*1538T>A)
c.*1859T>A (n.*1859T>A)
n.3386T>A
c.1619T>A (p.Val540Glu)
c.1862T>A (p.Val621Glu)
c.*942T>A (n.*942T>A)
c.1625T>A (p.Val542Glu)
c.1886T>A (p.Val629Glu)
c.1985T>A (p.Val662Glu)
n.4171T>A
n.1414T>A
c.92T>A (p.Val31Glu)
n.438T>A
c.*787T>A (n.*787T>A)
c.1868T>A (p.Val623Glu)
c.1991T>A (p.Val664Glu)
c.1724T>A (p.Val575Glu)
c.1718T>A (p.Val573Glu)
c.1601T>A (p.Val534Glu)
c.1979T>A (p.Val660Glu)
c.1712T>A (p.Val571Glu)
c.920T>A (p.Val307Glu)
n.2165T>A
8g.38414865C>ACA370730475FGFR1c.1891G>T (p.Val631Leu)
c.1879G>T (p.Val627Leu)
n.2784G>T
n.713G>T
n.581G>T
c.2071G>T (p.Val691Leu)
n.2579G>T
c.1612G>T (p.Val538Leu)
c.*1537G>T (n.*1537G>T)
c.*1858G>T (n.*1858G>T)
n.3385G>T
c.1618G>T (p.Val540Leu)
c.1861G>T (p.Val621Leu)
c.*941G>T (n.*941G>T)
c.1624G>T (p.Val542Leu)
c.1885G>T (p.Val629Leu)
c.1984G>T (p.Val662Leu)
n.4170G>T
n.1413G>T
c.91G>T (p.Val31Leu)
n.437G>T
c.*786G>T (n.*786G>T)
c.1867G>T (p.Val623Leu)
c.1990G>T (p.Val664Leu)
c.1723G>T (p.Val575Leu)
c.1717G>T (p.Val573Leu)
c.1600G>T (p.Val534Leu)
c.1978G>T (p.Val660Leu)
c.1711G>T (p.Val571Leu)
c.919G>T (p.Val307Leu)
n.2164G>T
8g.38414865C>GCA370730473FGFR1c.1891G>C (p.Val631Leu)
c.1879G>C (p.Val627Leu)
n.2784G>C
n.713G>C
n.581G>C
c.2071G>C (p.Val691Leu)
n.2579G>C
c.1612G>C (p.Val538Leu)
c.*1537G>C (n.*1537G>C)
c.*1858G>C (n.*1858G>C)
n.3385G>C
c.1618G>C (p.Val540Leu)
c.1861G>C (p.Val621Leu)
c.*941G>C (n.*941G>C)
c.1624G>C (p.Val542Leu)
c.1885G>C (p.Val629Leu)
c.1984G>C (p.Val662Leu)
n.4170G>C
n.1413G>C
c.91G>C (p.Val31Leu)
n.437G>C
c.*786G>C (n.*786G>C)
c.1867G>C (p.Val623Leu)
c.1990G>C (p.Val664Leu)
c.1723G>C (p.Val575Leu)
c.1717G>C (p.Val573Leu)
c.1600G>C (p.Val534Leu)
c.1978G>C (p.Val660Leu)
c.1711G>C (p.Val571Leu)
c.919G>C (p.Val307Leu)
n.2164G>C
dbSNP
8g.38414865C>TCA370730471FGFR1c.1891G>A (p.Val631Met)
c.1879G>A (p.Val627Met)
n.2784G>A
n.713G>A
n.581G>A
c.2071G>A (p.Val691Met)
n.2579G>A
c.1612G>A (p.Val538Met)
c.*1537G>A (n.*1537G>A)
c.*1858G>A (n.*1858G>A)
n.3385G>A
c.1618G>A (p.Val540Met)
c.1861G>A (p.Val621Met)
c.*941G>A (n.*941G>A)
c.1624G>A (p.Val542Met)
c.1885G>A (p.Val629Met)
c.1984G>A (p.Val662Met)
n.4170G>A
n.1413G>A
c.91G>A (p.Val31Met)
n.437G>A
c.*786G>A (n.*786G>A)
c.1867G>A (p.Val623Met)
c.1990G>A (p.Val664Met)
c.1723G>A (p.Val575Met)
c.1717G>A (p.Val573Met)
c.1600G>A (p.Val534Met)
c.1978G>A (p.Val660Met)
c.1711G>A (p.Val571Met)
c.919G>A (p.Val307Met)
n.2164G>A
dbSNP gnomAD v4
8g.38414866C>ACA460395875FGFR1c.1890G>T (p.Leu630=)
c.1878G>T (p.Leu626=)
n.2783G>T
n.712G>T
n.580G>T
c.2070G>T (p.Leu690=)
n.2578G>T
c.1611G>T (p.Leu537=)
c.*1536G>T (n.*1536G>T)
c.*1857G>T (n.*1857G>T)
n.3384G>T
c.1617G>T (p.Leu539=)
c.1860G>T (p.Leu620=)
c.*940G>T (n.*940G>T)
c.1623G>T (p.Leu541=)
c.1884G>T (p.Leu628=)
c.1983G>T (p.Leu661=)
n.4169G>T
n.1412G>T
c.90G>T (p.Leu30=)
n.436G>T
c.*785G>T (n.*785G>T)
c.1866G>T (p.Leu622=)
c.1989G>T (p.Leu663=)
c.1722G>T (p.Leu574=)
c.1716G>T (p.Leu572=)
c.1599G>T (p.Leu533=)
c.1977G>T (p.Leu659=)
c.1710G>T (p.Leu570=)
c.918G>T (p.Leu306=)
n.2163G>T
8g.38414866C>GCA460395878FGFR1c.1890G>C (p.Leu630=)
c.1878G>C (p.Leu626=)
n.2783G>C
n.712G>C
n.580G>C
c.2070G>C (p.Leu690=)
n.2578G>C
c.1611G>C (p.Leu537=)
c.*1536G>C (n.*1536G>C)
c.*1857G>C (n.*1857G>C)
n.3384G>C
c.1617G>C (p.Leu539=)
c.1860G>C (p.Leu620=)
c.*940G>C (n.*940G>C)
c.1623G>C (p.Leu541=)
c.1884G>C (p.Leu628=)
c.1983G>C (p.Leu661=)
n.4169G>C
n.1412G>C
c.90G>C (p.Leu30=)
n.436G>C
c.*785G>C (n.*785G>C)
c.1866G>C (p.Leu622=)
c.1989G>C (p.Leu663=)
c.1722G>C (p.Leu574=)
c.1716G>C (p.Leu572=)
c.1599G>C (p.Leu533=)
c.1977G>C (p.Leu659=)
c.1710G>C (p.Leu570=)
c.918G>C (p.Leu306=)
n.2163G>C
dbSNP
8g.38414866C>TCA460395877FGFR1c.1890G>A (p.Leu630=)
c.1878G>A (p.Leu626=)
n.2783G>A
n.712G>A
n.580G>A
c.2070G>A (p.Leu690=)
n.2578G>A
c.1611G>A (p.Leu537=)
c.*1536G>A (n.*1536G>A)
c.*1857G>A (n.*1857G>A)
n.3384G>A
c.1617G>A (p.Leu539=)
c.1860G>A (p.Leu620=)
c.*940G>A (n.*940G>A)
c.1623G>A (p.Leu541=)
c.1884G>A (p.Leu628=)
c.1983G>A (p.Leu661=)
n.4169G>A
n.1412G>A
c.90G>A (p.Leu30=)
n.436G>A
c.*785G>A (n.*785G>A)
c.1866G>A (p.Leu622=)
c.1989G>A (p.Leu663=)
c.1722G>A (p.Leu574=)
c.1716G>A (p.Leu572=)
c.1599G>A (p.Leu533=)
c.1977G>A (p.Leu659=)
c.1710G>A (p.Leu570=)
c.918G>A (p.Leu306=)
n.2163G>A
8g.38414867A>CCA370730476FGFR1c.1889T>G (p.Leu630Arg)
c.1877T>G (p.Leu626Arg)
n.2782T>G
n.711T>G
n.579T>G
c.2069T>G (p.Leu690Arg)
n.2577T>G
c.1610T>G (p.Leu537Arg)
c.*1535T>G (n.*1535T>G)
c.*1856T>G (n.*1856T>G)
n.3383T>G
c.1616T>G (p.Leu539Arg)
c.1859T>G (p.Leu620Arg)
c.*939T>G (n.*939T>G)
c.1622T>G (p.Leu541Arg)
c.1883T>G (p.Leu628Arg)
c.1982T>G (p.Leu661Arg)
n.4168T>G
n.1411T>G
c.89T>G (p.Leu30Arg)
n.435T>G
c.*784T>G (n.*784T>G)
c.1865T>G (p.Leu622Arg)
c.1988T>G (p.Leu663Arg)
c.1721T>G (p.Leu574Arg)
c.1715T>G (p.Leu572Arg)
c.1598T>G (p.Leu533Arg)
c.1976T>G (p.Leu659Arg)
c.1709T>G (p.Leu570Arg)
c.917T>G (p.Leu306Arg)
n.2162T>G
8g.38414867A>GCA370730477FGFR1c.1889T>C (p.Leu630Pro)
c.1877T>C (p.Leu626Pro)
n.2782T>C
n.711T>C
n.579T>C
c.2069T>C (p.Leu690Pro)
n.2577T>C
c.1610T>C (p.Leu537Pro)
c.*1535T>C (n.*1535T>C)
c.*1856T>C (n.*1856T>C)
n.3383T>C
c.1616T>C (p.Leu539Pro)
c.1859T>C (p.Leu620Pro)
c.*939T>C (n.*939T>C)
c.1622T>C (p.Leu541Pro)
c.1883T>C (p.Leu628Pro)
c.1982T>C (p.Leu661Pro)
n.4168T>C
n.1411T>C
c.89T>C (p.Leu30Pro)
n.435T>C
c.*784T>C (n.*784T>C)
c.1865T>C (p.Leu622Pro)
c.1988T>C (p.Leu663Pro)
c.1721T>C (p.Leu574Pro)
c.1715T>C (p.Leu572Pro)
c.1598T>C (p.Leu533Pro)
c.1976T>C (p.Leu659Pro)
c.1709T>C (p.Leu570Pro)
c.917T>C (p.Leu306Pro)
n.2162T>C
ClinVar
8g.38414867A>TCA370730479FGFR1c.1889T>A (p.Leu630Gln)
c.1877T>A (p.Leu626Gln)
n.2782T>A
n.711T>A
n.579T>A
c.2069T>A (p.Leu690Gln)
n.2577T>A
c.1610T>A (p.Leu537Gln)
c.*1535T>A (n.*1535T>A)
c.*1856T>A (n.*1856T>A)
n.3383T>A
c.1616T>A (p.Leu539Gln)
c.1859T>A (p.Leu620Gln)
c.*939T>A (n.*939T>A)
c.1622T>A (p.Leu541Gln)
c.1883T>A (p.Leu628Gln)
c.1982T>A (p.Leu661Gln)
n.4168T>A
n.1411T>A
c.89T>A (p.Leu30Gln)
n.435T>A
c.*784T>A (n.*784T>A)
c.1865T>A (p.Leu622Gln)
c.1988T>A (p.Leu663Gln)
c.1721T>A (p.Leu574Gln)
c.1715T>A (p.Leu572Gln)
c.1598T>A (p.Leu533Gln)
c.1976T>A (p.Leu659Gln)
c.1709T>A (p.Leu570Gln)
c.917T>A (p.Leu306Gln)
n.2162T>A
8g.38414868G>ACA4718239FGFR1c.1888C>T (p.Leu630=)
c.1876C>T (p.Leu626=)
n.2781C>T
n.710C>T
n.578C>T
c.2068C>T (p.Leu690=)
n.2576C>T
c.1609C>T (p.Leu537=)
c.*1534C>T (n.*1534C>T)
c.*1855C>T (n.*1855C>T)
n.3382C>T
c.1615C>T (p.Leu539=)
c.1858C>T (p.Leu620=)
c.*938C>T (n.*938C>T)
c.1621C>T (p.Leu541=)
c.1882C>T (p.Leu628=)
c.1981C>T (p.Leu661=)
n.4167C>T
n.1410C>T
c.88C>T (p.Leu30=)
n.434C>T
c.*783C>T (n.*783C>T)
c.1864C>T (p.Leu622=)
c.1987C>T (p.Leu663=)
c.1720C>T (p.Leu574=)
c.1714C>T (p.Leu572=)
c.1597C>T (p.Leu533=)
c.1975C>T (p.Leu659=)
c.1708C>T (p.Leu570=)
c.916C>T (p.Leu306=)
n.2161C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38414868G>CCA370730482FGFR1c.1888C>G (p.Leu630Val)
c.1876C>G (p.Leu626Val)
n.2781C>G
n.710C>G
n.578C>G
c.2068C>G (p.Leu690Val)
n.2576C>G
c.1609C>G (p.Leu537Val)
c.*1534C>G (n.*1534C>G)
c.*1855C>G (n.*1855C>G)
n.3382C>G
c.1615C>G (p.Leu539Val)
c.1858C>G (p.Leu620Val)
c.*938C>G (n.*938C>G)
c.1621C>G (p.Leu541Val)
c.1882C>G (p.Leu628Val)
c.1981C>G (p.Leu661Val)
n.4167C>G
n.1410C>G
c.88C>G (p.Leu30Val)
n.434C>G
c.*783C>G (n.*783C>G)
c.1864C>G (p.Leu622Val)
c.1987C>G (p.Leu663Val)
c.1720C>G (p.Leu574Val)
c.1714C>G (p.Leu572Val)
c.1597C>G (p.Leu533Val)
c.1975C>G (p.Leu659Val)
c.1708C>G (p.Leu570Val)
c.916C>G (p.Leu306Val)
n.2161C>G
dbSNP
8g.38414868G=CA1777534800FGFR1c.1888C= (p.Leu630=)
c.1876C= (p.Leu626=)
n.2781C=
n.710C=
n.578C=
c.2068C= (p.Leu690=)
n.2576C=
c.1609C= (p.Leu537=)
c.*1534C= (n.*1534C=)
c.*1855C= (n.*1855C=)
n.3382C=
c.1615C= (p.Leu539=)
c.1858C= (p.Leu620=)
c.*938C= (n.*938C=)
c.1621C= (p.Leu541=)
c.1882C= (p.Leu628=)
c.1981C= (p.Leu661=)
n.4167C=
n.1410C=
c.88C= (p.Leu30=)
n.434C=
c.*783C= (n.*783C=)
c.1864C= (p.Leu622=)
c.1987C= (p.Leu663=)
c.1720C= (p.Leu574=)
c.1714C= (p.Leu572=)
c.1597C= (p.Leu533=)
c.1975C= (p.Leu659=)
c.1708C= (p.Leu570=)
c.916C= (p.Leu306=)
n.2161C=
8g.38414868G>TCA370730483FGFR1c.1888C>A (p.Leu630Met)
c.1876C>A (p.Leu626Met)
n.2781C>A
n.710C>A
n.578C>A
c.2068C>A (p.Leu690Met)
n.2576C>A
c.1609C>A (p.Leu537Met)
c.*1534C>A (n.*1534C>A)
c.*1855C>A (n.*1855C>A)
n.3382C>A
c.1615C>A (p.Leu539Met)
c.1858C>A (p.Leu620Met)
c.*938C>A (n.*938C>A)
c.1621C>A (p.Leu541Met)
c.1882C>A (p.Leu628Met)
c.1981C>A (p.Leu661Met)
n.4167C>A
n.1410C>A
c.88C>A (p.Leu30Met)
n.434C>A
c.*783C>A (n.*783C>A)
c.1864C>A (p.Leu622Met)
c.1987C>A (p.Leu663Met)
c.1720C>A (p.Leu574Met)
c.1714C>A (p.Leu572Met)
c.1597C>A (p.Leu533Met)
c.1975C>A (p.Leu659Met)
c.1708C>A (p.Leu570Met)
c.916C>A (p.Leu306Met)
n.2161C>A
8g.38414869G>ACA460395880FGFR1c.1887C>T (p.Val629=)
c.1875C>T (p.Val625=)
n.2780C>T
n.709C>T
n.577C>T
c.2067C>T (p.Val689=)
n.2575C>T
c.1608C>T (p.Val536=)
c.*1533C>T (n.*1533C>T)
c.*1854C>T (n.*1854C>T)
n.3381C>T
c.1614C>T (p.Val538=)
c.1857C>T (p.Val619=)
c.*937C>T (n.*937C>T)
c.1620C>T (p.Val540=)
c.1881C>T (p.Val627=)
c.1980C>T (p.Val660=)
n.4166C>T
n.1409C>T
c.87C>T (p.Val29=)
n.433C>T
c.*782C>T (n.*782C>T)
c.1863C>T (p.Val621=)
c.1986C>T (p.Val662=)
c.1719C>T (p.Val573=)
c.1713C>T (p.Val571=)
c.1596C>T (p.Val532=)
c.1974C>T (p.Val658=)
c.1707C>T (p.Val569=)
c.915C>T (p.Val305=)
n.2160C>T
dbSNP
8g.38414869G>CCA460395882FGFR1c.1887C>G (p.Val629=)
c.1875C>G (p.Val625=)
n.2780C>G
n.709C>G
n.577C>G
c.2067C>G (p.Val689=)
n.2575C>G
c.1608C>G (p.Val536=)
c.*1533C>G (n.*1533C>G)
c.*1854C>G (n.*1854C>G)
n.3381C>G
c.1614C>G (p.Val538=)
c.1857C>G (p.Val619=)
c.*937C>G (n.*937C>G)
c.1620C>G (p.Val540=)
c.1881C>G (p.Val627=)
c.1980C>G (p.Val660=)
n.4166C>G
n.1409C>G
c.87C>G (p.Val29=)
n.433C>G
c.*782C>G (n.*782C>G)
c.1863C>G (p.Val621=)
c.1986C>G (p.Val662=)
c.1719C>G (p.Val573=)
c.1713C>G (p.Val571=)
c.1596C>G (p.Val532=)
c.1974C>G (p.Val658=)
c.1707C>G (p.Val569=)
c.915C>G (p.Val305=)
n.2160C>G
dbSNP
8g.38414869G>TCA460395881FGFR1c.1887C>A (p.Val629=)
c.1875C>A (p.Val625=)
n.2780C>A
n.709C>A
n.577C>A
c.2067C>A (p.Val689=)
n.2575C>A
c.1608C>A (p.Val536=)
c.*1533C>A (n.*1533C>A)
c.*1854C>A (n.*1854C>A)
n.3381C>A
c.1614C>A (p.Val538=)
c.1857C>A (p.Val619=)
c.*937C>A (n.*937C>A)
c.1620C>A (p.Val540=)
c.1881C>A (p.Val627=)
c.1980C>A (p.Val660=)
n.4166C>A
n.1409C>A
c.87C>A (p.Val29=)
n.433C>A
c.*782C>A (n.*782C>A)
c.1863C>A (p.Val621=)
c.1986C>A (p.Val662=)
c.1719C>A (p.Val573=)
c.1713C>A (p.Val571=)
c.1596C>A (p.Val532=)
c.1974C>A (p.Val658=)
c.1707C>A (p.Val569=)
c.915C>A (p.Val305=)
n.2160C>A
8g.38414870A>CCA370730485FGFR1c.1886T>G (p.Val629Gly)
c.1874T>G (p.Val625Gly)
n.2779T>G
n.708T>G
n.576T>G
c.2066T>G (p.Val689Gly)
n.2574T>G
c.1607T>G (p.Val536Gly)
c.*1532T>G (n.*1532T>G)
c.*1853T>G (n.*1853T>G)
n.3380T>G
c.1613T>G (p.Val538Gly)
c.1856T>G (p.Val619Gly)
c.*936T>G (n.*936T>G)
c.1619T>G (p.Val540Gly)
c.1880T>G (p.Val627Gly)
c.1979T>G (p.Val660Gly)
n.4165T>G
n.1408T>G
c.86T>G (p.Val29Gly)
n.432T>G
c.*781T>G (n.*781T>G)
c.1862T>G (p.Val621Gly)
c.1985T>G (p.Val662Gly)
c.1718T>G (p.Val573Gly)
c.1712T>G (p.Val571Gly)
c.1595T>G (p.Val532Gly)
c.1973T>G (p.Val658Gly)
c.1706T>G (p.Val569Gly)
c.914T>G (p.Val305Gly)
n.2159T>G
dbSNP
8g.38414870A>GCA370730486FGFR1c.1886T>C (p.Val629Ala)
c.1874T>C (p.Val625Ala)
n.2779T>C
n.708T>C
n.576T>C
c.2066T>C (p.Val689Ala)
n.2574T>C
c.1607T>C (p.Val536Ala)
c.*1532T>C (n.*1532T>C)
c.*1853T>C (n.*1853T>C)
n.3380T>C
c.1613T>C (p.Val538Ala)
c.1856T>C (p.Val619Ala)
c.*936T>C (n.*936T>C)
c.1619T>C (p.Val540Ala)
c.1880T>C (p.Val627Ala)
c.1979T>C (p.Val660Ala)
n.4165T>C
n.1408T>C
c.86T>C (p.Val29Ala)
n.432T>C
c.*781T>C (n.*781T>C)
c.1862T>C (p.Val621Ala)
c.1985T>C (p.Val662Ala)
c.1718T>C (p.Val573Ala)
c.1712T>C (p.Val571Ala)
c.1595T>C (p.Val532Ala)
c.1973T>C (p.Val658Ala)
c.1706T>C (p.Val569Ala)
c.914T>C (p.Val305Ala)
n.2159T>C
8g.38414870A>TCA370730488FGFR1c.1886T>A (p.Val629Asp)
c.1874T>A (p.Val625Asp)
n.2779T>A
n.708T>A
n.576T>A
c.2066T>A (p.Val689Asp)
n.2574T>A
c.1607T>A (p.Val536Asp)
c.*1532T>A (n.*1532T>A)
c.*1853T>A (n.*1853T>A)
n.3380T>A
c.1613T>A (p.Val538Asp)
c.1856T>A (p.Val619Asp)
c.*936T>A (n.*936T>A)
c.1619T>A (p.Val540Asp)
c.1880T>A (p.Val627Asp)
c.1979T>A (p.Val660Asp)
n.4165T>A
n.1408T>A
c.86T>A (p.Val29Asp)
n.432T>A
c.*781T>A (n.*781T>A)
c.1862T>A (p.Val621Asp)
c.1985T>A (p.Val662Asp)
c.1718T>A (p.Val573Asp)
c.1712T>A (p.Val571Asp)
c.1595T>A (p.Val532Asp)
c.1973T>A (p.Val658Asp)
c.1706T>A (p.Val569Asp)
c.914T>A (p.Val305Asp)
n.2159T>A
dbSNP
8g.38414871C>ACA370730491FGFR1c.1885G>T (p.Val629Phe)
c.1873G>T (p.Val625Phe)
n.2778G>T
n.707G>T
n.575G>T
c.2065G>T (p.Val689Phe)
n.2573G>T
c.1606G>T (p.Val536Phe)
c.*1531G>T (n.*1531G>T)
c.*1852G>T (n.*1852G>T)
n.3379G>T
c.1612G>T (p.Val538Phe)
c.1855G>T (p.Val619Phe)
c.*935G>T (n.*935G>T)
c.1618G>T (p.Val540Phe)
c.1879G>T (p.Val627Phe)
c.1978G>T (p.Val660Phe)
n.4164G>T
n.1407G>T
c.85G>T (p.Val29Phe)
n.431G>T
c.*780G>T (n.*780G>T)
c.1861G>T (p.Val621Phe)
c.1984G>T (p.Val662Phe)
c.1717G>T (p.Val573Phe)
c.1711G>T (p.Val571Phe)
c.1594G>T (p.Val532Phe)
c.1972G>T (p.Val658Phe)
c.1705G>T (p.Val569Phe)
c.913G>T (p.Val305Phe)
n.2158G>T
8g.38414871C>GCA370730493FGFR1c.1885G>C (p.Val629Leu)
c.1873G>C (p.Val625Leu)
n.2778G>C
n.707G>C
n.575G>C
c.2065G>C (p.Val689Leu)
n.2573G>C
c.1606G>C (p.Val536Leu)
c.*1531G>C (n.*1531G>C)
c.*1852G>C (n.*1852G>C)
n.3379G>C
c.1612G>C (p.Val538Leu)
c.1855G>C (p.Val619Leu)
c.*935G>C (n.*935G>C)
c.1618G>C (p.Val540Leu)
c.1879G>C (p.Val627Leu)
c.1978G>C (p.Val660Leu)
n.4164G>C
n.1407G>C
c.85G>C (p.Val29Leu)
n.431G>C
c.*780G>C (n.*780G>C)
c.1861G>C (p.Val621Leu)
c.1984G>C (p.Val662Leu)
c.1717G>C (p.Val573Leu)
c.1711G>C (p.Val571Leu)
c.1594G>C (p.Val532Leu)
c.1972G>C (p.Val658Leu)
c.1705G>C (p.Val569Leu)
c.913G>C (p.Val305Leu)
n.2158G>C
dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC
8g.38414871C>TCA370730497FGFR1c.1885G>A (p.Val629Ile)
c.1873G>A (p.Val625Ile)
n.2778G>A
n.707G>A
n.575G>A
c.2065G>A (p.Val689Ile)
n.2573G>A
c.1606G>A (p.Val536Ile)
c.*1531G>A (n.*1531G>A)
c.*1852G>A (n.*1852G>A)
n.3379G>A
c.1612G>A (p.Val538Ile)
c.1855G>A (p.Val619Ile)
c.*935G>A (n.*935G>A)
c.1618G>A (p.Val540Ile)
c.1879G>A (p.Val627Ile)
c.1978G>A (p.Val660Ile)
n.4164G>A
n.1407G>A
c.85G>A (p.Val29Ile)
n.431G>A
c.*780G>A (n.*780G>A)
c.1861G>A (p.Val621Ile)
c.1984G>A (p.Val662Ile)
c.1717G>A (p.Val573Ile)
c.1711G>A (p.Val571Ile)
c.1594G>A (p.Val532Ile)
c.1972G>A (p.Val658Ile)
c.1705G>A (p.Val569Ile)
c.913G>A (p.Val305Ile)
n.2158G>A
dbSNP
8g.38414872A=CA1777534803FGFR1c.1884T= (p.Asn628=)
c.1872T= (p.Asn624=)
n.2777T=
n.706T=
n.574T=
c.2064T= (p.Asn688=)
n.2572T=
c.1605T= (p.Asn535=)
c.*1530T= (n.*1530T=)
c.*1851T= (n.*1851T=)
n.3378T=
c.1611T= (p.Asn537=)
c.1854T= (p.Asn618=)
c.*934T= (n.*934T=)
c.1617T= (p.Asn539=)
c.1878T= (p.Asn626=)
c.1977T= (p.Asn659=)
n.4163T=
n.1406T=
c.84T= (p.Asn28=)
n.430T=
c.*779T= (n.*779T=)
c.1860T= (p.Asn620=)
c.1983T= (p.Asn661=)
c.1716T= (p.Asn572=)
c.1710T= (p.Asn570=)
c.1593T= (p.Asn531=)
c.1971T= (p.Asn657=)
c.1704T= (p.Asn568=)
c.912T= (p.Asn304=)
n.2157T=
8g.38414872A>CCA357150FGFR1c.1884T>G (p.Asn628Lys)
c.1872T>G (p.Asn624Lys)
n.2777T>G
n.706T>G
n.574T>G
c.2064T>G (p.Asn688Lys)
n.2572T>G
c.1605T>G (p.Asn535Lys)
c.*1530T>G (n.*1530T>G)
c.*1851T>G (n.*1851T>G)
n.3378T>G
c.1611T>G (p.Asn537Lys)
c.1854T>G (p.Asn618Lys)
c.*934T>G (n.*934T>G)
c.1617T>G (p.Asn539Lys)
c.1878T>G (p.Asn626Lys)
c.1977T>G (p.Asn659Lys)
n.4163T>G
n.1406T>G
c.84T>G (p.Asn28Lys)
n.430T>G
c.*779T>G (n.*779T>G)
c.1860T>G (p.Asn620Lys)
c.1983T>G (p.Asn661Lys)
c.1716T>G (p.Asn572Lys)
c.1710T>G (p.Asn570Lys)
c.1593T>G (p.Asn531Lys)
c.1971T>G (p.Asn657Lys)
c.1704T>G (p.Asn568Lys)
c.912T>G (p.Asn304Lys)
n.2157T>G
ClinVar dbSNP
8g.38414872A>GCA460395884FGFR1c.1884T>C (p.Asn628=)
c.1872T>C (p.Asn624=)
n.2777T>C
n.706T>C
n.574T>C
c.2064T>C (p.Asn688=)
n.2572T>C
c.1605T>C (p.Asn535=)
c.*1530T>C (n.*1530T>C)
c.*1851T>C (n.*1851T>C)
n.3378T>C
c.1611T>C (p.Asn537=)
c.1854T>C (p.Asn618=)
c.*934T>C (n.*934T>C)
c.1617T>C (p.Asn539=)
c.1878T>C (p.Asn626=)
c.1977T>C (p.Asn659=)
n.4163T>C
n.1406T>C
c.84T>C (p.Asn28=)
n.430T>C
c.*779T>C (n.*779T>C)
c.1860T>C (p.Asn620=)
c.1983T>C (p.Asn661=)
c.1716T>C (p.Asn572=)
c.1710T>C (p.Asn570=)
c.1593T>C (p.Asn531=)
c.1971T>C (p.Asn657=)
c.1704T>C (p.Asn568=)
c.912T>C (p.Asn304=)
n.2157T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38414872A>TCA370730499FGFR1c.1884T>A (p.Asn628Lys)
c.1872T>A (p.Asn624Lys)
n.2777T>A
n.706T>A
n.574T>A
c.2064T>A (p.Asn688Lys)
n.2572T>A
c.1605T>A (p.Asn535Lys)
c.*1530T>A (n.*1530T>A)
c.*1851T>A (n.*1851T>A)
n.3378T>A
c.1611T>A (p.Asn537Lys)
c.1854T>A (p.Asn618Lys)
c.*934T>A (n.*934T>A)
c.1617T>A (p.Asn539Lys)
c.1878T>A (p.Asn626Lys)
c.1977T>A (p.Asn659Lys)
n.4163T>A
n.1406T>A
c.84T>A (p.Asn28Lys)
n.430T>A
c.*779T>A (n.*779T>A)
c.1860T>A (p.Asn620Lys)
c.1983T>A (p.Asn661Lys)
c.1716T>A (p.Asn572Lys)
c.1710T>A (p.Asn570Lys)
c.1593T>A (p.Asn531Lys)
c.1971T>A (p.Asn657Lys)
c.1704T>A (p.Asn568Lys)
c.912T>A (p.Asn304Lys)
n.2157T>A
dbSNP

Number of alleles fetched