UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.38413642_38418900dup | CA2580614557 | FGFR1 | c.1285-527_2455dup c.1273-527_2280+276dup n.1651_3348dup c.1465-527_2472+276dup c.1273-527_2443dup n.1973-527_3143dup c.1006-527_2176dup c.*931-527_*1938+276dup c.*1252-527_*2422dup n.2779-527_3949dup c.1012-527_2182dup c.1255-527_2425dup c.*335-527_*1505dup c.1018-527_2188dup c.1279-527_2449dup c.1378-527_2548dup n.3564-527_4734dup c.*180-527_*1350dup c.1285-527_2292+276dup c.1279-527_2286+276dup c.1261-527_2268+276dup c.1018-527_2025+276dup c.1012-527_2019+276dup c.1384-527_2391+276dup c.1378-527_2385+276dup c.1384-527_2554dup c.1117-527_2124+276dup c.1111-527_2118+276dup c.1111-527_2281dup c.994-527_2001+276dup c.1372-527_2379+276dup c.1372-527_2542dup c.1105-527_2275dup c.313-527_1320+276dup c.313-527_1483dup n.1533-527_2728dup n.1533-527_2565+276dup | |
| 8 | g.38413719_38419638dup | CA2740094990 | FGFR1 | c.1179_2378dup c.1173_2280+199dup n.913_3271dup c.1365_2472+199dup c.1173_2366dup n.1873_3066dup c.906_2099dup c.*831_*1938+199dup c.*1146_*2345dup n.2673_3872dup c.906_2105dup c.1155_2348dup c.*229_*1428dup c.912_2111dup c.1173_2372dup c.1272_2471dup n.3458_4657dup c.1179_2372dup c.*74_*1273dup c.1179_2292+199dup c.1173_2286+199dup c.1155_2268+199dup c.912_2025+199dup c.906_2019+199dup c.1278_2391+199dup c.1272_2385+199dup c.1278_2385+199dup c.1278_2477dup c.1278_2471dup c.1011_2124+199dup c.1005_2118+199dup c.1005_2204dup c.888_2001+199dup c.1272_2379+199dup c.1272_2465dup c.1179_2286+199dup c.1011_2204dup c.1005_2198dup c.213_1320+199dup c.213_1406dup n.1427_2651dup n.1427_2565+199dup | |
| 8 | g.38414165A>C | CA370728397 | FGFR1 | c.2173T>G (p.Cys725Gly) c.2161T>G (p.Cys721Gly) n.3066T>G n.1413T>G n.863T>G c.2353T>G (p.Cys785Gly) n.2861T>G c.1894T>G (p.Cys632Gly) c.*1819T>G (n.*1819T>G) c.*2140T>G (n.*2140T>G) n.3667T>G c.1900T>G (p.Cys634Gly) c.2143T>G (p.Cys715Gly) c.*1223T>G (n.*1223T>G) c.1906T>G (p.Cys636Gly) c.2167T>G (p.Cys723Gly) c.2266T>G (p.Cys756Gly) n.4452T>G c.373T>G (p.Cys125Gly) c.*1068T>G (n.*1068T>G) c.2149T>G (p.Cys717Gly) c.2272T>G (p.Cys758Gly) c.2005T>G (p.Cys669Gly) c.1999T>G (p.Cys667Gly) c.1882T>G (p.Cys628Gly) c.2260T>G (p.Cys754Gly) c.1993T>G (p.Cys665Gly) c.1201T>G (p.Cys401Gly) n.2446T>G | |
| 8 | g.38414165A>G | CA370728399 | FGFR1 | c.2173T>C (p.Cys725Arg) c.2161T>C (p.Cys721Arg) n.3066T>C n.1413T>C n.863T>C c.2353T>C (p.Cys785Arg) n.2861T>C c.1894T>C (p.Cys632Arg) c.*1819T>C (n.*1819T>C) c.*2140T>C (n.*2140T>C) n.3667T>C c.1900T>C (p.Cys634Arg) c.2143T>C (p.Cys715Arg) c.*1223T>C (n.*1223T>C) c.1906T>C (p.Cys636Arg) c.2167T>C (p.Cys723Arg) c.2266T>C (p.Cys756Arg) n.4452T>C c.373T>C (p.Cys125Arg) c.*1068T>C (n.*1068T>C) c.2149T>C (p.Cys717Arg) c.2272T>C (p.Cys758Arg) c.2005T>C (p.Cys669Arg) c.1999T>C (p.Cys667Arg) c.1882T>C (p.Cys628Arg) c.2260T>C (p.Cys754Arg) c.1993T>C (p.Cys665Arg) c.1201T>C (p.Cys401Arg) n.2446T>C | dbSNP |
| 8 | g.38414165A>T | CA370728400 | FGFR1 | c.2173T>A (p.Cys725Ser) c.2161T>A (p.Cys721Ser) n.3066T>A n.1413T>A n.863T>A c.2353T>A (p.Cys785Ser) n.2861T>A c.1894T>A (p.Cys632Ser) c.*1819T>A (n.*1819T>A) c.*2140T>A (n.*2140T>A) n.3667T>A c.1900T>A (p.Cys634Ser) c.2143T>A (p.Cys715Ser) c.*1223T>A (n.*1223T>A) c.1906T>A (p.Cys636Ser) c.2167T>A (p.Cys723Ser) c.2266T>A (p.Cys756Ser) n.4452T>A c.373T>A (p.Cys125Ser) c.*1068T>A (n.*1068T>A) c.2149T>A (p.Cys717Ser) c.2272T>A (p.Cys758Ser) c.2005T>A (p.Cys669Ser) c.1999T>A (p.Cys667Ser) c.1882T>A (p.Cys628Ser) c.2260T>A (p.Cys754Ser) c.1993T>A (p.Cys665Ser) c.1201T>A (p.Cys401Ser) n.2446T>A | dbSNP |
| 8 | g.38414166G>A | CA4718166 | FGFR1 | c.2172C>T (p.Asn724=) c.2160C>T (p.Asn720=) n.3065C>T n.1412C>T n.862C>T c.2352C>T (p.Asn784=) n.2860C>T c.1893C>T (p.Asn631=) c.*1818C>T (n.*1818C>T) c.*2139C>T (n.*2139C>T) n.3666C>T c.1899C>T (p.Asn633=) c.2142C>T (p.Asn714=) c.*1222C>T (n.*1222C>T) c.1905C>T (p.Asn635=) c.2166C>T (p.Asn722=) c.2265C>T (p.Asn755=) n.4451C>T c.372C>T (p.Asn124=) c.*1067C>T (n.*1067C>T) c.2148C>T (p.Asn716=) c.2271C>T (p.Asn757=) c.2004C>T (p.Asn668=) c.1998C>T (p.Asn666=) c.1881C>T (p.Asn627=) c.2259C>T (p.Asn753=) c.1992C>T (p.Asn664=) c.1200C>T (p.Asn400=) n.2445C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.38414166G>C | CA045386 | FGFR1 | c.2172C>G (p.Asn724Lys) c.2160C>G (p.Asn720Lys) n.3065C>G n.1412C>G n.862C>G c.2352C>G (p.Asn784Lys) n.2860C>G c.1893C>G (p.Asn631Lys) c.*1818C>G (n.*1818C>G) c.*2139C>G (n.*2139C>G) n.3666C>G c.1899C>G (p.Asn633Lys) c.2142C>G (p.Asn714Lys) c.*1222C>G (n.*1222C>G) c.1905C>G (p.Asn635Lys) c.2166C>G (p.Asn722Lys) c.2265C>G (p.Asn755Lys) n.4451C>G c.372C>G (p.Asn124Lys) c.*1067C>G (n.*1067C>G) c.2148C>G (p.Asn716Lys) c.2271C>G (p.Asn757Lys) c.2004C>G (p.Asn668Lys) c.1998C>G (p.Asn666Lys) c.1881C>G (p.Asn627Lys) c.2259C>G (p.Asn753Lys) c.1992C>G (p.Asn664Lys) c.1200C>G (p.Asn400Lys) n.2445C>G | ClinVar dbSNP |
| 8 | g.[38414166G>C;38414173G>T] | CA045397 | FGFR1 | c.[2165C>A;2172C>G] (p.[Pro722His;Asn724Lys]) c.[2153C>A;2160C>G] (p.[Pro718His;Asn720Lys]) n.[3058C>A;3065C>G] n.[1405C>A;1412C>G] n.[855C>A;862C>G] c.[2345C>A;2352C>G] (p.[Pro782His;Asn784Lys]) n.[2853C>A;2860C>G] c.[1886C>A;1893C>G] (p.[Pro629His;Asn631Lys]) c.[*1811C>A;*1818C>G] (n.[*1811C>A;*1818C>G]) c.[*2132C>A;*2139C>G] (n.[*2132C>A;*2139C>G]) n.[3659C>A;3666C>G] c.[1892C>A;1899C>G] (p.[Pro631His;Asn633Lys]) c.[2135C>A;2142C>G] (p.[Pro712His;Asn714Lys]) c.[*1215C>A;*1222C>G] (n.[*1215C>A;*1222C>G]) c.[1898C>A;1905C>G] (p.[Pro633His;Asn635Lys]) c.[2159C>A;2166C>G] (p.[Pro720His;Asn722Lys]) c.[2258C>A;2265C>G] (p.[Pro753His;Asn755Lys]) n.[4444C>A;4451C>G] c.[365C>A;372C>G] (p.[Pro122His;Asn124Lys]) c.[*1060C>A;*1067C>G] (n.[*1060C>A;*1067C>G]) c.[2141C>A;2148C>G] (p.[Pro714His;Asn716Lys]) c.[2264C>A;2271C>G] (p.[Pro755His;Asn757Lys]) c.[1997C>A;2004C>G] (p.[Pro666His;Asn668Lys]) c.[1991C>A;1998C>G] (p.[Pro664His;Asn666Lys]) c.[1874C>A;1881C>G] (p.[Pro625His;Asn627Lys]) c.[2252C>A;2259C>G] (p.[Pro751His;Asn753Lys]) c.[1985C>A;1992C>G] (p.[Pro662His;Asn664Lys]) c.[1193C>A;1200C>G] (p.[Pro398His;Asn400Lys]) n.[2438C>A;2445C>G] | ClinVar |
| 8 | g.38414166G= | CA1777533776 | FGFR1 | c.2172C= (p.Asn724=) c.2160C= (p.Asn720=) n.3065C= n.1412C= n.862C= c.2352C= (p.Asn784=) n.2860C= c.1893C= (p.Asn631=) c.*1818C= (n.*1818C=) c.*2139C= (n.*2139C=) n.3666C= c.1899C= (p.Asn633=) c.2142C= (p.Asn714=) c.*1222C= (n.*1222C=) c.1905C= (p.Asn635=) c.2166C= (p.Asn722=) c.2265C= (p.Asn755=) n.4451C= c.372C= (p.Asn124=) c.*1067C= (n.*1067C=) c.2148C= (p.Asn716=) c.2271C= (p.Asn757=) c.2004C= (p.Asn668=) c.1998C= (p.Asn666=) c.1881C= (p.Asn627=) c.2259C= (p.Asn753=) c.1992C= (p.Asn664=) c.1200C= (p.Asn400=) n.2445C= | |
| 8 | g.38414166G>T | CA370728406 | FGFR1 | c.2172C>A (p.Asn724Lys) c.2160C>A (p.Asn720Lys) n.3065C>A n.1412C>A n.862C>A c.2352C>A (p.Asn784Lys) n.2860C>A c.1893C>A (p.Asn631Lys) c.*1818C>A (n.*1818C>A) c.*2139C>A (n.*2139C>A) n.3666C>A c.1899C>A (p.Asn633Lys) c.2142C>A (p.Asn714Lys) c.*1222C>A (n.*1222C>A) c.1905C>A (p.Asn635Lys) c.2166C>A (p.Asn722Lys) c.2265C>A (p.Asn755Lys) n.4451C>A c.372C>A (p.Asn124Lys) c.*1067C>A (n.*1067C>A) c.2148C>A (p.Asn716Lys) c.2271C>A (p.Asn757Lys) c.2004C>A (p.Asn668Lys) c.1998C>A (p.Asn666Lys) c.1881C>A (p.Asn627Lys) c.2259C>A (p.Asn753Lys) c.1992C>A (p.Asn664Lys) c.1200C>A (p.Asn400Lys) n.2445C>A | |
| 8 | g.38414166_38414173delinsCTTACTGT | CA2695209136 | FGFR1 | c.2165_2172delinsACAGTAAG (p.Pro722_Asn724delinsHisSerLys) c.2153_2160delinsACAGTAAG (p.Pro718_Asn720delinsHisSerLys) n.3058_3065delinsACAGTAAG n.1405_1412delinsACAGTAAG n.855_862delinsACAGTAAG c.2345_2352delinsACAGTAAG (p.Pro782_Asn784delinsHisSerLys) n.2853_2860delinsACAGTAAG c.1886_1893delinsACAGTAAG (p.Pro629_Asn631delinsHisSerLys) c.*1811_*1818delinsACAGTAAG (n.*1811_*1818delinsACAGTAAG) c.*2132_*2139delinsACAGTAAG (n.*2132_*2139delinsACAGTAAG) n.3659_3666delinsACAGTAAG c.1892_1899delinsACAGTAAG (p.Pro631_Asn633delinsHisSerLys) c.2135_2142delinsACAGTAAG (p.Pro712_Asn714delinsHisSerLys) c.*1215_*1222delinsACAGTAAG (n.*1215_*1222delinsACAGTAAG) c.1898_1905delinsACAGTAAG (p.Pro633_Asn635delinsHisSerLys) c.2159_2166delinsACAGTAAG (p.Pro720_Asn722delinsHisSerLys) c.2258_2265delinsACAGTAAG (p.Pro753_Asn755delinsHisSerLys) n.4444_4451delinsACAGTAAG c.365_372delinsACAGTAAG (p.Pro122_Asn124delinsHisSerLys) c.*1060_*1067delinsACAGTAAG (n.*1060_*1067delinsACAGTAAG) c.2141_2148delinsACAGTAAG (p.Pro714_Asn716delinsHisSerLys) c.2264_2271delinsACAGTAAG (p.Pro755_Asn757delinsHisSerLys) c.1997_2004delinsACAGTAAG (p.Pro666_Asn668delinsHisSerLys) c.1991_1998delinsACAGTAAG (p.Pro664_Asn666delinsHisSerLys) c.1874_1881delinsACAGTAAG (p.Pro625_Asn627delinsHisSerLys) c.2252_2259delinsACAGTAAG (p.Pro751_Asn753delinsHisSerLys) c.1985_1992delinsACAGTAAG (p.Pro662_Asn664delinsHisSerLys) c.1193_1200delinsACAGTAAG (p.Pro398_Asn400delinsHisSerLys) n.2438_2445delinsACAGTAAG | |
| 8 | g.38414167T>A | CA370728410 | FGFR1 | c.2171A>T (p.Asn724Ile) c.2159A>T (p.Asn720Ile) n.3064A>T n.1411A>T n.861A>T c.2351A>T (p.Asn784Ile) n.2859A>T c.1892A>T (p.Asn631Ile) c.*1817A>T (n.*1817A>T) c.*2138A>T (n.*2138A>T) n.3665A>T c.1898A>T (p.Asn633Ile) c.2141A>T (p.Asn714Ile) c.*1221A>T (n.*1221A>T) c.1904A>T (p.Asn635Ile) c.2165A>T (p.Asn722Ile) c.2264A>T (p.Asn755Ile) n.4450A>T c.371A>T (p.Asn124Ile) c.*1066A>T (n.*1066A>T) c.2147A>T (p.Asn716Ile) c.2270A>T (p.Asn757Ile) c.2003A>T (p.Asn668Ile) c.1997A>T (p.Asn666Ile) c.1880A>T (p.Asn627Ile) c.2258A>T (p.Asn753Ile) c.1991A>T (p.Asn664Ile) c.1199A>T (p.Asn400Ile) n.2444A>T | dbSNP |
| 8 | g.38414167T>C | CA370728407 | FGFR1 | c.2171A>G (p.Asn724Ser) c.2159A>G (p.Asn720Ser) n.3064A>G n.1411A>G n.861A>G c.2351A>G (p.Asn784Ser) n.2859A>G c.1892A>G (p.Asn631Ser) c.*1817A>G (n.*1817A>G) c.*2138A>G (n.*2138A>G) n.3665A>G c.1898A>G (p.Asn633Ser) c.2141A>G (p.Asn714Ser) c.*1221A>G (n.*1221A>G) c.1904A>G (p.Asn635Ser) c.2165A>G (p.Asn722Ser) c.2264A>G (p.Asn755Ser) n.4450A>G c.371A>G (p.Asn124Ser) c.*1066A>G (n.*1066A>G) c.2147A>G (p.Asn716Ser) c.2270A>G (p.Asn757Ser) c.2003A>G (p.Asn668Ser) c.1997A>G (p.Asn666Ser) c.1880A>G (p.Asn627Ser) c.2258A>G (p.Asn753Ser) c.1991A>G (p.Asn664Ser) c.1199A>G (p.Asn400Ser) n.2444A>G | |
| 8 | g.38414167T>G | CA370728408 | FGFR1 | c.2171A>C (p.Asn724Thr) c.2159A>C (p.Asn720Thr) n.3064A>C n.1411A>C n.861A>C c.2351A>C (p.Asn784Thr) n.2859A>C c.1892A>C (p.Asn631Thr) c.*1817A>C (n.*1817A>C) c.*2138A>C (n.*2138A>C) n.3665A>C c.1898A>C (p.Asn633Thr) c.2141A>C (p.Asn714Thr) c.*1221A>C (n.*1221A>C) c.1904A>C (p.Asn635Thr) c.2165A>C (p.Asn722Thr) c.2264A>C (p.Asn755Thr) n.4450A>C c.371A>C (p.Asn124Thr) c.*1066A>C (n.*1066A>C) c.2147A>C (p.Asn716Thr) c.2270A>C (p.Asn757Thr) c.2003A>C (p.Asn668Thr) c.1997A>C (p.Asn666Thr) c.1880A>C (p.Asn627Thr) c.2258A>C (p.Asn753Thr) c.1991A>C (p.Asn664Thr) c.1199A>C (p.Asn400Thr) n.2444A>C | dbSNP |
| 8 | g.38414168T>A | CA370728413 | FGFR1 | c.2170A>T (p.Asn724Tyr) c.2158A>T (p.Asn720Tyr) n.3063A>T n.1410A>T n.860A>T c.2350A>T (p.Asn784Tyr) n.2858A>T c.1891A>T (p.Asn631Tyr) c.*1816A>T (n.*1816A>T) c.*2137A>T (n.*2137A>T) n.3664A>T c.1897A>T (p.Asn633Tyr) c.2140A>T (p.Asn714Tyr) c.*1220A>T (n.*1220A>T) c.1903A>T (p.Asn635Tyr) c.2164A>T (p.Asn722Tyr) c.2263A>T (p.Asn755Tyr) n.4449A>T c.370A>T (p.Asn124Tyr) c.*1065A>T (n.*1065A>T) c.2146A>T (p.Asn716Tyr) c.2269A>T (p.Asn757Tyr) c.2002A>T (p.Asn668Tyr) c.1996A>T (p.Asn666Tyr) c.1879A>T (p.Asn627Tyr) c.2257A>T (p.Asn753Tyr) c.1990A>T (p.Asn664Tyr) c.1198A>T (p.Asn400Tyr) n.2443A>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.38414168T>C | CA370728417 | FGFR1 | c.2170A>G (p.Asn724Asp) c.2158A>G (p.Asn720Asp) n.3063A>G n.1410A>G n.860A>G c.2350A>G (p.Asn784Asp) n.2858A>G c.1891A>G (p.Asn631Asp) c.*1816A>G (n.*1816A>G) c.*2137A>G (n.*2137A>G) n.3664A>G c.1897A>G (p.Asn633Asp) c.2140A>G (p.Asn714Asp) c.*1220A>G (n.*1220A>G) c.1903A>G (p.Asn635Asp) c.2164A>G (p.Asn722Asp) c.2263A>G (p.Asn755Asp) n.4449A>G c.370A>G (p.Asn124Asp) c.*1065A>G (n.*1065A>G) c.2146A>G (p.Asn716Asp) c.2269A>G (p.Asn757Asp) c.2002A>G (p.Asn668Asp) c.1996A>G (p.Asn666Asp) c.1879A>G (p.Asn627Asp) c.2257A>G (p.Asn753Asp) c.1990A>G (p.Asn664Asp) c.1198A>G (p.Asn400Asp) n.2443A>G | gnomAD v4 |
| 8 | g.38414168T>G | CA370728419 | FGFR1 | c.2170A>C (p.Asn724His) c.2158A>C (p.Asn720His) n.3063A>C n.1410A>C n.860A>C c.2350A>C (p.Asn784His) n.2858A>C c.1891A>C (p.Asn631His) c.*1816A>C (n.*1816A>C) c.*2137A>C (n.*2137A>C) n.3664A>C c.1897A>C (p.Asn633His) c.2140A>C (p.Asn714His) c.*1220A>C (n.*1220A>C) c.1903A>C (p.Asn635His) c.2164A>C (p.Asn722His) c.2263A>C (p.Asn755His) n.4449A>C c.370A>C (p.Asn124His) c.*1065A>C (n.*1065A>C) c.2146A>C (p.Asn716His) c.2269A>C (p.Asn757His) c.2002A>C (p.Asn668His) c.1996A>C (p.Asn666His) c.1879A>C (p.Asn627His) c.2257A>C (p.Asn753His) c.1990A>C (p.Asn664His) c.1198A>C (p.Asn400His) n.2443A>C | dbSNP |
| 8 | g.38414168T= | CA1777533779 | FGFR1 | c.2170A= (p.Asn724=) c.2158A= (p.Asn720=) n.3063A= n.1410A= n.860A= c.2350A= (p.Asn784=) n.2858A= c.1891A= (p.Asn631=) c.*1816A= (n.*1816A=) c.*2137A= (n.*2137A=) n.3664A= c.1897A= (p.Asn633=) c.2140A= (p.Asn714=) c.*1220A= (n.*1220A=) c.1903A= (p.Asn635=) c.2164A= (p.Asn722=) c.2263A= (p.Asn755=) n.4449A= c.370A= (p.Asn124=) c.*1065A= (n.*1065A=) c.2146A= (p.Asn716=) c.2269A= (p.Asn757=) c.2002A= (p.Asn668=) c.1996A= (p.Asn666=) c.1879A= (p.Asn627=) c.2257A= (p.Asn753=) c.1990A= (p.Asn664=) c.1198A= (p.Asn400=) n.2443A= | |
| 8 | g.38414169A>C | CA370728421 | FGFR1 | c.2169T>G (p.Ser723Arg) c.2157T>G (p.Ser719Arg) n.3062T>G n.1409T>G n.859T>G c.2349T>G (p.Ser783Arg) n.2857T>G c.1890T>G (p.Ser630Arg) c.*1815T>G (n.*1815T>G) c.*2136T>G (n.*2136T>G) n.3663T>G c.1896T>G (p.Ser632Arg) c.2139T>G (p.Ser713Arg) c.*1219T>G (n.*1219T>G) c.1902T>G (p.Ser634Arg) c.2163T>G (p.Ser721Arg) c.2262T>G (p.Ser754Arg) n.4448T>G c.369T>G (p.Ser123Arg) c.*1064T>G (n.*1064T>G) c.2145T>G (p.Ser715Arg) c.2268T>G (p.Ser756Arg) c.2001T>G (p.Ser667Arg) c.1995T>G (p.Ser665Arg) c.1878T>G (p.Ser626Arg) c.2256T>G (p.Ser752Arg) c.1989T>G (p.Ser663Arg) c.1197T>G (p.Ser399Arg) n.2442T>G | dbSNP |
| 8 | g.38414169A>G | CA460499262 | FGFR1 | c.2169T>C (p.Ser723=) c.2157T>C (p.Ser719=) n.3062T>C n.1409T>C n.859T>C c.2349T>C (p.Ser783=) n.2857T>C c.1890T>C (p.Ser630=) c.*1815T>C (n.*1815T>C) c.*2136T>C (n.*2136T>C) n.3663T>C c.1896T>C (p.Ser632=) c.2139T>C (p.Ser713=) c.*1219T>C (n.*1219T>C) c.1902T>C (p.Ser634=) c.2163T>C (p.Ser721=) c.2262T>C (p.Ser754=) n.4448T>C c.369T>C (p.Ser123=) c.*1064T>C (n.*1064T>C) c.2145T>C (p.Ser715=) c.2268T>C (p.Ser756=) c.2001T>C (p.Ser667=) c.1995T>C (p.Ser665=) c.1878T>C (p.Ser626=) c.2256T>C (p.Ser752=) c.1989T>C (p.Ser663=) c.1197T>C (p.Ser399=) n.2442T>C | |
| 8 | g.38414169A>T | CA370728423 | FGFR1 | c.2169T>A (p.Ser723Arg) c.2157T>A (p.Ser719Arg) n.3062T>A n.1409T>A n.859T>A c.2349T>A (p.Ser783Arg) n.2857T>A c.1890T>A (p.Ser630Arg) c.*1815T>A (n.*1815T>A) c.*2136T>A (n.*2136T>A) n.3663T>A c.1896T>A (p.Ser632Arg) c.2139T>A (p.Ser713Arg) c.*1219T>A (n.*1219T>A) c.1902T>A (p.Ser634Arg) c.2163T>A (p.Ser721Arg) c.2262T>A (p.Ser754Arg) n.4448T>A c.369T>A (p.Ser123Arg) c.*1064T>A (n.*1064T>A) c.2145T>A (p.Ser715Arg) c.2268T>A (p.Ser756Arg) c.2001T>A (p.Ser667Arg) c.1995T>A (p.Ser665Arg) c.1878T>A (p.Ser626Arg) c.2256T>A (p.Ser752Arg) c.1989T>A (p.Ser663Arg) c.1197T>A (p.Ser399Arg) n.2442T>A | dbSNP |
| 8 | g.38414170C>A | CA370728427 | FGFR1 | c.2168G>T (p.Ser723Ile) c.2156G>T (p.Ser719Ile) n.3061G>T n.1408G>T n.858G>T c.2348G>T (p.Ser783Ile) n.2856G>T c.1889G>T (p.Ser630Ile) c.*1814G>T (n.*1814G>T) c.*2135G>T (n.*2135G>T) n.3662G>T c.1895G>T (p.Ser632Ile) c.2138G>T (p.Ser713Ile) c.*1218G>T (n.*1218G>T) c.1901G>T (p.Ser634Ile) c.2162G>T (p.Ser721Ile) c.2261G>T (p.Ser754Ile) n.4447G>T c.368G>T (p.Ser123Ile) c.*1063G>T (n.*1063G>T) c.2144G>T (p.Ser715Ile) c.2267G>T (p.Ser756Ile) c.2000G>T (p.Ser667Ile) c.1994G>T (p.Ser665Ile) c.1877G>T (p.Ser626Ile) c.2255G>T (p.Ser752Ile) c.1988G>T (p.Ser663Ile) c.1196G>T (p.Ser399Ile) n.2441G>T | |
| 8 | g.38414170C= | CA1777533782 | FGFR1 | c.2168G= (p.Ser723=) c.2156G= (p.Ser719=) n.3061G= n.1408G= n.858G= c.2348G= (p.Ser783=) n.2856G= c.1889G= (p.Ser630=) c.*1814G= (n.*1814G=) c.*2135G= (n.*2135G=) n.3662G= c.1895G= (p.Ser632=) c.2138G= (p.Ser713=) c.*1218G= (n.*1218G=) c.1901G= (p.Ser634=) c.2162G= (p.Ser721=) c.2261G= (p.Ser754=) n.4447G= c.368G= (p.Ser123=) c.*1063G= (n.*1063G=) c.2144G= (p.Ser715=) c.2267G= (p.Ser756=) c.2000G= (p.Ser667=) c.1994G= (p.Ser665=) c.1877G= (p.Ser626=) c.2255G= (p.Ser752=) c.1988G= (p.Ser663=) c.1196G= (p.Ser399=) n.2441G= | |
| 8 | g.38414170C>G | CA370728428 | FGFR1 | c.2168G>C (p.Ser723Thr) c.2156G>C (p.Ser719Thr) n.3061G>C n.1408G>C n.858G>C c.2348G>C (p.Ser783Thr) n.2856G>C c.1889G>C (p.Ser630Thr) c.*1814G>C (n.*1814G>C) c.*2135G>C (n.*2135G>C) n.3662G>C c.1895G>C (p.Ser632Thr) c.2138G>C (p.Ser713Thr) c.*1218G>C (n.*1218G>C) c.1901G>C (p.Ser634Thr) c.2162G>C (p.Ser721Thr) c.2261G>C (p.Ser754Thr) n.4447G>C c.368G>C (p.Ser123Thr) c.*1063G>C (n.*1063G>C) c.2144G>C (p.Ser715Thr) c.2267G>C (p.Ser756Thr) c.2000G>C (p.Ser667Thr) c.1994G>C (p.Ser665Thr) c.1877G>C (p.Ser626Thr) c.2255G>C (p.Ser752Thr) c.1988G>C (p.Ser663Thr) c.1196G>C (p.Ser399Thr) n.2441G>C | dbSNP |
| 8 | g.38414170C>T | CA4718167 | FGFR1 | c.2168G>A (p.Ser723Asn) c.2156G>A (p.Ser719Asn) n.3061G>A n.1408G>A n.858G>A c.2348G>A (p.Ser783Asn) n.2856G>A c.1889G>A (p.Ser630Asn) c.*1814G>A (n.*1814G>A) c.*2135G>A (n.*2135G>A) n.3662G>A c.1895G>A (p.Ser632Asn) c.2138G>A (p.Ser713Asn) c.*1218G>A (n.*1218G>A) c.1901G>A (p.Ser634Asn) c.2162G>A (p.Ser721Asn) c.2261G>A (p.Ser754Asn) n.4447G>A c.368G>A (p.Ser123Asn) c.*1063G>A (n.*1063G>A) c.2144G>A (p.Ser715Asn) c.2267G>A (p.Ser756Asn) c.2000G>A (p.Ser667Asn) c.1994G>A (p.Ser665Asn) c.1877G>A (p.Ser626Asn) c.2255G>A (p.Ser752Asn) c.1988G>A (p.Ser663Asn) c.1196G>A (p.Ser399Asn) n.2441G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.38414171T>A | CA370728432 | FGFR1 | c.2167A>T (p.Ser723Cys) c.2155A>T (p.Ser719Cys) n.3060A>T n.1407A>T n.857A>T c.2347A>T (p.Ser783Cys) n.2855A>T c.1888A>T (p.Ser630Cys) c.*1813A>T (n.*1813A>T) c.*2134A>T (n.*2134A>T) n.3661A>T c.1894A>T (p.Ser632Cys) c.2137A>T (p.Ser713Cys) c.*1217A>T (n.*1217A>T) c.1900A>T (p.Ser634Cys) c.2161A>T (p.Ser721Cys) c.2260A>T (p.Ser754Cys) n.4446A>T c.367A>T (p.Ser123Cys) c.*1062A>T (n.*1062A>T) c.2143A>T (p.Ser715Cys) c.2266A>T (p.Ser756Cys) c.1999A>T (p.Ser667Cys) c.1993A>T (p.Ser665Cys) c.1876A>T (p.Ser626Cys) c.2254A>T (p.Ser752Cys) c.1987A>T (p.Ser663Cys) c.1195A>T (p.Ser399Cys) n.2440A>T | |
| 8 | g.38414171T>C | CA370728434 | FGFR1 | c.2167A>G (p.Ser723Gly) c.2155A>G (p.Ser719Gly) n.3060A>G n.1407A>G n.857A>G c.2347A>G (p.Ser783Gly) n.2855A>G c.1888A>G (p.Ser630Gly) c.*1813A>G (n.*1813A>G) c.*2134A>G (n.*2134A>G) n.3661A>G c.1894A>G (p.Ser632Gly) c.2137A>G (p.Ser713Gly) c.*1217A>G (n.*1217A>G) c.1900A>G (p.Ser634Gly) c.2161A>G (p.Ser721Gly) c.2260A>G (p.Ser754Gly) n.4446A>G c.367A>G (p.Ser123Gly) c.*1062A>G (n.*1062A>G) c.2143A>G (p.Ser715Gly) c.2266A>G (p.Ser756Gly) c.1999A>G (p.Ser667Gly) c.1993A>G (p.Ser665Gly) c.1876A>G (p.Ser626Gly) c.2254A>G (p.Ser752Gly) c.1987A>G (p.Ser663Gly) c.1195A>G (p.Ser399Gly) n.2440A>G | |
| 8 | g.38414171T>G | CA370728436 | FGFR1 | c.2167A>C (p.Ser723Arg) c.2155A>C (p.Ser719Arg) n.3060A>C n.1407A>C n.857A>C c.2347A>C (p.Ser783Arg) n.2855A>C c.1888A>C (p.Ser630Arg) c.*1813A>C (n.*1813A>C) c.*2134A>C (n.*2134A>C) n.3661A>C c.1894A>C (p.Ser632Arg) c.2137A>C (p.Ser713Arg) c.*1217A>C (n.*1217A>C) c.1900A>C (p.Ser634Arg) c.2161A>C (p.Ser721Arg) c.2260A>C (p.Ser754Arg) n.4446A>C c.367A>C (p.Ser123Arg) c.*1062A>C (n.*1062A>C) c.2143A>C (p.Ser715Arg) c.2266A>C (p.Ser756Arg) c.1999A>C (p.Ser667Arg) c.1993A>C (p.Ser665Arg) c.1876A>C (p.Ser626Arg) c.2254A>C (p.Ser752Arg) c.1987A>C (p.Ser663Arg) c.1195A>C (p.Ser399Arg) n.2440A>C | |
| 8 | g.38414172G>A | CA460499269 | FGFR1 | c.2166C>T (p.Pro722=) c.2154C>T (p.Pro718=) n.3059C>T n.1406C>T n.856C>T c.2346C>T (p.Pro782=) n.2854C>T c.1887C>T (p.Pro629=) c.*1812C>T (n.*1812C>T) c.*2133C>T (n.*2133C>T) n.3660C>T c.1893C>T (p.Pro631=) c.2136C>T (p.Pro712=) c.*1216C>T (n.*1216C>T) c.1899C>T (p.Pro633=) c.2160C>T (p.Pro720=) c.2259C>T (p.Pro753=) n.4445C>T c.366C>T (p.Pro122=) c.*1061C>T (n.*1061C>T) c.2142C>T (p.Pro714=) c.2265C>T (p.Pro755=) c.1998C>T (p.Pro666=) c.1992C>T (p.Pro664=) c.1875C>T (p.Pro625=) c.2253C>T (p.Pro751=) c.1986C>T (p.Pro662=) c.1194C>T (p.Pro398=) n.2439C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 8 | g.38414172G>C | CA460499270 | FGFR1 | c.2166C>G (p.Pro722=) c.2154C>G (p.Pro718=) n.3059C>G n.1406C>G n.856C>G c.2346C>G (p.Pro782=) n.2854C>G c.1887C>G (p.Pro629=) c.*1812C>G (n.*1812C>G) c.*2133C>G (n.*2133C>G) n.3660C>G c.1893C>G (p.Pro631=) c.2136C>G (p.Pro712=) c.*1216C>G (n.*1216C>G) c.1899C>G (p.Pro633=) c.2160C>G (p.Pro720=) c.2259C>G (p.Pro753=) n.4445C>G c.366C>G (p.Pro122=) c.*1061C>G (n.*1061C>G) c.2142C>G (p.Pro714=) c.2265C>G (p.Pro755=) c.1998C>G (p.Pro666=) c.1992C>G (p.Pro664=) c.1875C>G (p.Pro625=) c.2253C>G (p.Pro751=) c.1986C>G (p.Pro662=) c.1194C>G (p.Pro398=) n.2439C>G | dbSNP |
| 8 | g.38414172G= | CA1777533785 | FGFR1 | c.2166C= (p.Pro722=) c.2154C= (p.Pro718=) n.3059C= n.1406C= n.856C= c.2346C= (p.Pro782=) n.2854C= c.1887C= (p.Pro629=) c.*1812C= (n.*1812C=) c.*2133C= (n.*2133C=) n.3660C= c.1893C= (p.Pro631=) c.2136C= (p.Pro712=) c.*1216C= (n.*1216C=) c.1899C= (p.Pro633=) c.2160C= (p.Pro720=) c.2259C= (p.Pro753=) n.4445C= c.366C= (p.Pro122=) c.*1061C= (n.*1061C=) c.2142C= (p.Pro714=) c.2265C= (p.Pro755=) c.1998C= (p.Pro666=) c.1992C= (p.Pro664=) c.1875C= (p.Pro625=) c.2253C= (p.Pro751=) c.1986C= (p.Pro662=) c.1194C= (p.Pro398=) n.2439C= | |
| 8 | g.38414172G>T | CA460499272 | FGFR1 | c.2166C>A (p.Pro722=) c.2154C>A (p.Pro718=) n.3059C>A n.1406C>A n.856C>A c.2346C>A (p.Pro782=) n.2854C>A c.1887C>A (p.Pro629=) c.*1812C>A (n.*1812C>A) c.*2133C>A (n.*2133C>A) n.3660C>A c.1893C>A (p.Pro631=) c.2136C>A (p.Pro712=) c.*1216C>A (n.*1216C>A) c.1899C>A (p.Pro633=) c.2160C>A (p.Pro720=) c.2259C>A (p.Pro753=) n.4445C>A c.366C>A (p.Pro122=) c.*1061C>A (n.*1061C>A) c.2142C>A (p.Pro714=) c.2265C>A (p.Pro755=) c.1998C>A (p.Pro666=) c.1992C>A (p.Pro664=) c.1875C>A (p.Pro625=) c.2253C>A (p.Pro751=) c.1986C>A (p.Pro662=) c.1194C>A (p.Pro398=) n.2439C>A | |
| 8 | g.38414173G>A | CA370728438 | FGFR1 | c.2165C>T (p.Pro722Leu) c.2153C>T (p.Pro718Leu) n.3058C>T n.1405C>T n.855C>T c.2345C>T (p.Pro782Leu) n.2853C>T c.1886C>T (p.Pro629Leu) c.*1811C>T (n.*1811C>T) c.*2132C>T (n.*2132C>T) n.3659C>T c.1892C>T (p.Pro631Leu) c.2135C>T (p.Pro712Leu) c.*1215C>T (n.*1215C>T) c.1898C>T (p.Pro633Leu) c.2159C>T (p.Pro720Leu) c.2258C>T (p.Pro753Leu) n.4444C>T c.365C>T (p.Pro122Leu) c.*1060C>T (n.*1060C>T) c.2141C>T (p.Pro714Leu) c.2264C>T (p.Pro755Leu) c.1997C>T (p.Pro666Leu) c.1991C>T (p.Pro664Leu) c.1874C>T (p.Pro625Leu) c.2252C>T (p.Pro751Leu) c.1985C>T (p.Pro662Leu) c.1193C>T (p.Pro398Leu) n.2438C>T | dbSNP |
| 8 | g.38414173G>C | CA370728440 | FGFR1 | c.2165C>G (p.Pro722Arg) c.2153C>G (p.Pro718Arg) n.3058C>G n.1405C>G n.855C>G c.2345C>G (p.Pro782Arg) n.2853C>G c.1886C>G (p.Pro629Arg) c.*1811C>G (n.*1811C>G) c.*2132C>G (n.*2132C>G) n.3659C>G c.1892C>G (p.Pro631Arg) c.2135C>G (p.Pro712Arg) c.*1215C>G (n.*1215C>G) c.1898C>G (p.Pro633Arg) c.2159C>G (p.Pro720Arg) c.2258C>G (p.Pro753Arg) n.4444C>G c.365C>G (p.Pro122Arg) c.*1060C>G (n.*1060C>G) c.2141C>G (p.Pro714Arg) c.2264C>G (p.Pro755Arg) c.1997C>G (p.Pro666Arg) c.1991C>G (p.Pro664Arg) c.1874C>G (p.Pro625Arg) c.2252C>G (p.Pro751Arg) c.1985C>G (p.Pro662Arg) c.1193C>G (p.Pro398Arg) n.2438C>G | dbSNP |
| 8 | g.38414173G= | CA1777533788 | FGFR1 | c.2165C= (p.Pro722=) c.2153C= (p.Pro718=) n.3058C= n.1405C= n.855C= c.2345C= (p.Pro782=) n.2853C= c.1886C= (p.Pro629=) c.*1811C= (n.*1811C=) c.*2132C= (n.*2132C=) n.3659C= c.1892C= (p.Pro631=) c.2135C= (p.Pro712=) c.*1215C= (n.*1215C=) c.1898C= (p.Pro633=) c.2159C= (p.Pro720=) c.2258C= (p.Pro753=) n.4444C= c.365C= (p.Pro122=) c.*1060C= (n.*1060C=) c.2141C= (p.Pro714=) c.2264C= (p.Pro755=) c.1997C= (p.Pro666=) c.1991C= (p.Pro664=) c.1874C= (p.Pro625=) c.2252C= (p.Pro751=) c.1985C= (p.Pro662=) c.1193C= (p.Pro398=) n.2438C= | |
| 8 | g.38414173G>T | CA045363 | FGFR1 | c.2165C>A (p.Pro722His) c.2153C>A (p.Pro718His) n.3058C>A n.1405C>A n.855C>A c.2345C>A (p.Pro782His) n.2853C>A c.1886C>A (p.Pro629His) c.*1811C>A (n.*1811C>A) c.*2132C>A (n.*2132C>A) n.3659C>A c.1892C>A (p.Pro631His) c.2135C>A (p.Pro712His) c.*1215C>A (n.*1215C>A) c.1898C>A (p.Pro633His) c.2159C>A (p.Pro720His) c.2258C>A (p.Pro753His) n.4444C>A c.365C>A (p.Pro122His) c.*1060C>A (n.*1060C>A) c.2141C>A (p.Pro714His) c.2264C>A (p.Pro755His) c.1997C>A (p.Pro666His) c.1991C>A (p.Pro664His) c.1874C>A (p.Pro625His) c.2252C>A (p.Pro751His) c.1985C>A (p.Pro662His) c.1193C>A (p.Pro398His) n.2438C>A | ClinVar dbSNP |
| 8 | g.38414174G>A | CA130223 | FGFR1 | c.2164C>T (p.Pro722Ser) c.2152C>T (p.Pro718Ser) n.3057C>T n.1404C>T n.854C>T c.2344C>T (p.Pro782Ser) n.2852C>T c.1885C>T (p.Pro629Ser) c.*1810C>T (n.*1810C>T) c.*2131C>T (n.*2131C>T) n.3658C>T c.1891C>T (p.Pro631Ser) c.2134C>T (p.Pro712Ser) c.*1214C>T (n.*1214C>T) c.1897C>T (p.Pro633Ser) c.2158C>T (p.Pro720Ser) c.2257C>T (p.Pro753Ser) n.4443C>T c.364C>T (p.Pro122Ser) c.*1059C>T (n.*1059C>T) c.2140C>T (p.Pro714Ser) c.2263C>T (p.Pro755Ser) c.1996C>T (p.Pro666Ser) c.1990C>T (p.Pro664Ser) c.1873C>T (p.Pro625Ser) c.2251C>T (p.Pro751Ser) c.1984C>T (p.Pro662Ser) c.1192C>T (p.Pro398Ser) n.2437C>T | ClinVar dbSNP |
| 8 | g.38414174G>C | CA370728443 | FGFR1 | c.2164C>G (p.Pro722Ala) c.2152C>G (p.Pro718Ala) n.3057C>G n.1404C>G n.854C>G c.2344C>G (p.Pro782Ala) n.2852C>G c.1885C>G (p.Pro629Ala) c.*1810C>G (n.*1810C>G) c.*2131C>G (n.*2131C>G) n.3658C>G c.1891C>G (p.Pro631Ala) c.2134C>G (p.Pro712Ala) c.*1214C>G (n.*1214C>G) c.1897C>G (p.Pro633Ala) c.2158C>G (p.Pro720Ala) c.2257C>G (p.Pro753Ala) n.4443C>G c.364C>G (p.Pro122Ala) c.*1059C>G (n.*1059C>G) c.2140C>G (p.Pro714Ala) c.2263C>G (p.Pro755Ala) c.1996C>G (p.Pro666Ala) c.1990C>G (p.Pro664Ala) c.1873C>G (p.Pro625Ala) c.2251C>G (p.Pro751Ala) c.1984C>G (p.Pro662Ala) c.1192C>G (p.Pro398Ala) n.2437C>G | dbSNP |
| 8 | g.38414174G= | CA1777533792 | FGFR1 | c.2164C= (p.Pro722=) c.2152C= (p.Pro718=) n.3057C= n.1404C= n.854C= c.2344C= (p.Pro782=) n.2852C= c.1885C= (p.Pro629=) c.*1810C= (n.*1810C=) c.*2131C= (n.*2131C=) n.3658C= c.1891C= (p.Pro631=) c.2134C= (p.Pro712=) c.*1214C= (n.*1214C=) c.1897C= (p.Pro633=) c.2158C= (p.Pro720=) c.2257C= (p.Pro753=) n.4443C= c.364C= (p.Pro122=) c.*1059C= (n.*1059C=) c.2140C= (p.Pro714=) c.2263C= (p.Pro755=) c.1996C= (p.Pro666=) c.1990C= (p.Pro664=) c.1873C= (p.Pro625=) c.2251C= (p.Pro751=) c.1984C= (p.Pro662=) c.1192C= (p.Pro398=) n.2437C= | |
| 8 | g.38414174G>T | CA370728445 | FGFR1 | c.2164C>A (p.Pro722Thr) c.2152C>A (p.Pro718Thr) n.3057C>A n.1404C>A n.854C>A c.2344C>A (p.Pro782Thr) n.2852C>A c.1885C>A (p.Pro629Thr) c.*1810C>A (n.*1810C>A) c.*2131C>A (n.*2131C>A) n.3658C>A c.1891C>A (p.Pro631Thr) c.2134C>A (p.Pro712Thr) c.*1214C>A (n.*1214C>A) c.1897C>A (p.Pro633Thr) c.2158C>A (p.Pro720Thr) c.2257C>A (p.Pro753Thr) n.4443C>A c.364C>A (p.Pro122Thr) c.*1059C>A (n.*1059C>A) c.2140C>A (p.Pro714Thr) c.2263C>A (p.Pro755Thr) c.1996C>A (p.Pro666Thr) c.1990C>A (p.Pro664Thr) c.1873C>A (p.Pro625Thr) c.2251C>A (p.Pro751Thr) c.1984C>A (p.Pro662Thr) c.1192C>A (p.Pro398Thr) n.2437C>A | dbSNP |
| 8 | g.38414175C>A | CA370728450 | FGFR1 | c.2163G>T (p.Lys721Asn) c.2151G>T (p.Lys717Asn) n.3056G>T n.1403G>T n.853G>T c.2343G>T (p.Lys781Asn) n.2851G>T c.1884G>T (p.Lys628Asn) c.*1809G>T (n.*1809G>T) c.*2130G>T (n.*2130G>T) n.3657G>T c.1890G>T (p.Lys630Asn) c.2133G>T (p.Lys711Asn) c.*1213G>T (n.*1213G>T) c.1896G>T (p.Lys632Asn) c.2157G>T (p.Lys719Asn) c.2256G>T (p.Lys752Asn) n.4442G>T c.363G>T (p.Lys121Asn) c.*1058G>T (n.*1058G>T) c.2139G>T (p.Lys713Asn) c.2262G>T (p.Lys754Asn) c.1995G>T (p.Lys665Asn) c.1989G>T (p.Lys663Asn) c.1872G>T (p.Lys624Asn) c.2250G>T (p.Lys750Asn) c.1983G>T (p.Lys661Asn) c.1191G>T (p.Lys397Asn) n.2436G>T | |
| 8 | g.38414175C= | CA1777533797 | FGFR1 | c.2163G= (p.Lys721=) c.2151G= (p.Lys717=) n.3056G= n.1403G= n.853G= c.2343G= (p.Lys781=) n.2851G= c.1884G= (p.Lys628=) c.*1809G= (n.*1809G=) c.*2130G= (n.*2130G=) n.3657G= c.1890G= (p.Lys630=) c.2133G= (p.Lys711=) c.*1213G= (n.*1213G=) c.1896G= (p.Lys632=) c.2157G= (p.Lys719=) c.2256G= (p.Lys752=) n.4442G= c.363G= (p.Lys121=) c.*1058G= (n.*1058G=) c.2139G= (p.Lys713=) c.2262G= (p.Lys754=) c.1995G= (p.Lys665=) c.1989G= (p.Lys663=) c.1872G= (p.Lys624=) c.2250G= (p.Lys750=) c.1983G= (p.Lys661=) c.1191G= (p.Lys397=) n.2436G= | |
| 8 | g.38414175C>G | CA370728452 | FGFR1 | c.2163G>C (p.Lys721Asn) c.2151G>C (p.Lys717Asn) n.3056G>C n.1403G>C n.853G>C c.2343G>C (p.Lys781Asn) n.2851G>C c.1884G>C (p.Lys628Asn) c.*1809G>C (n.*1809G>C) c.*2130G>C (n.*2130G>C) n.3657G>C c.1890G>C (p.Lys630Asn) c.2133G>C (p.Lys711Asn) c.*1213G>C (n.*1213G>C) c.1896G>C (p.Lys632Asn) c.2157G>C (p.Lys719Asn) c.2256G>C (p.Lys752Asn) n.4442G>C c.363G>C (p.Lys121Asn) c.*1058G>C (n.*1058G>C) c.2139G>C (p.Lys713Asn) c.2262G>C (p.Lys754Asn) c.1995G>C (p.Lys665Asn) c.1989G>C (p.Lys663Asn) c.1872G>C (p.Lys624Asn) c.2250G>C (p.Lys750Asn) c.1983G>C (p.Lys661Asn) c.1191G>C (p.Lys397Asn) n.2436G>C | |
| 8 | g.38414175C>T | CA4718168 | FGFR1 | c.2163G>A (p.Lys721=) c.2151G>A (p.Lys717=) n.3056G>A n.1403G>A n.853G>A c.2343G>A (p.Lys781=) n.2851G>A c.1884G>A (p.Lys628=) c.*1809G>A (n.*1809G>A) c.*2130G>A (n.*2130G>A) n.3657G>A c.1890G>A (p.Lys630=) c.2133G>A (p.Lys711=) c.*1213G>A (n.*1213G>A) c.1896G>A (p.Lys632=) c.2157G>A (p.Lys719=) c.2256G>A (p.Lys752=) n.4442G>A c.363G>A (p.Lys121=) c.*1058G>A (n.*1058G>A) c.2139G>A (p.Lys713=) c.2262G>A (p.Lys754=) c.1995G>A (p.Lys665=) c.1989G>A (p.Lys663=) c.1872G>A (p.Lys624=) c.2250G>A (p.Lys750=) c.1983G>A (p.Lys661=) c.1191G>A (p.Lys397=) n.2436G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.38414176T>A | CA370728455 | FGFR1 | c.2162A>T (p.Lys721Met) c.2150A>T (p.Lys717Met) n.3055A>T n.1402A>T n.852A>T c.2342A>T (p.Lys781Met) n.2850A>T c.1883A>T (p.Lys628Met) c.*1808A>T (n.*1808A>T) c.*2129A>T (n.*2129A>T) n.3656A>T c.1889A>T (p.Lys630Met) c.2132A>T (p.Lys711Met) c.*1212A>T (n.*1212A>T) c.1895A>T (p.Lys632Met) c.2156A>T (p.Lys719Met) c.2255A>T (p.Lys752Met) n.4441A>T c.362A>T (p.Lys121Met) c.*1057A>T (n.*1057A>T) c.2138A>T (p.Lys713Met) c.2261A>T (p.Lys754Met) c.1994A>T (p.Lys665Met) c.1988A>T (p.Lys663Met) c.1871A>T (p.Lys624Met) c.2249A>T (p.Lys750Met) c.1982A>T (p.Lys661Met) c.1190A>T (p.Lys397Met) n.2435A>T | dbSNP |
| 8 | g.38414176T>C | CA370728457 | FGFR1 | c.2162A>G (p.Lys721Arg) c.2150A>G (p.Lys717Arg) n.3055A>G n.1402A>G n.852A>G c.2342A>G (p.Lys781Arg) n.2850A>G c.1883A>G (p.Lys628Arg) c.*1808A>G (n.*1808A>G) c.*2129A>G (n.*2129A>G) n.3656A>G c.1889A>G (p.Lys630Arg) c.2132A>G (p.Lys711Arg) c.*1212A>G (n.*1212A>G) c.1895A>G (p.Lys632Arg) c.2156A>G (p.Lys719Arg) c.2255A>G (p.Lys752Arg) n.4441A>G c.362A>G (p.Lys121Arg) c.*1057A>G (n.*1057A>G) c.2138A>G (p.Lys713Arg) c.2261A>G (p.Lys754Arg) c.1994A>G (p.Lys665Arg) c.1988A>G (p.Lys663Arg) c.1871A>G (p.Lys624Arg) c.2249A>G (p.Lys750Arg) c.1982A>G (p.Lys661Arg) c.1190A>G (p.Lys397Arg) n.2435A>G | dbSNP |
| 8 | g.38414176T>G | CA370728459 | FGFR1 | c.2162A>C (p.Lys721Thr) c.2150A>C (p.Lys717Thr) n.3055A>C n.1402A>C n.852A>C c.2342A>C (p.Lys781Thr) n.2850A>C c.1883A>C (p.Lys628Thr) c.*1808A>C (n.*1808A>C) c.*2129A>C (n.*2129A>C) n.3656A>C c.1889A>C (p.Lys630Thr) c.2132A>C (p.Lys711Thr) c.*1212A>C (n.*1212A>C) c.1895A>C (p.Lys632Thr) c.2156A>C (p.Lys719Thr) c.2255A>C (p.Lys752Thr) n.4441A>C c.362A>C (p.Lys121Thr) c.*1057A>C (n.*1057A>C) c.2138A>C (p.Lys713Thr) c.2261A>C (p.Lys754Thr) c.1994A>C (p.Lys665Thr) c.1988A>C (p.Lys663Thr) c.1871A>C (p.Lys624Thr) c.2249A>C (p.Lys750Thr) c.1982A>C (p.Lys661Thr) c.1190A>C (p.Lys397Thr) n.2435A>C | |
| 8 | g.38414177T>A | CA370728463 | FGFR1 | c.2161A>T (p.Lys721Ter) c.2149A>T (p.Lys717Ter) n.3054A>T n.1401A>T n.851A>T c.2341A>T (p.Lys781Ter) n.2849A>T c.1882A>T (p.Lys628Ter) c.*1807A>T (n.*1807A>T) c.*2128A>T (n.*2128A>T) n.3655A>T c.1888A>T (p.Lys630Ter) c.2131A>T (p.Lys711Ter) c.*1211A>T (n.*1211A>T) c.1894A>T (p.Lys632Ter) c.2155A>T (p.Lys719Ter) c.2254A>T (p.Lys752Ter) n.4440A>T c.361A>T (p.Lys121Ter) c.*1056A>T (n.*1056A>T) c.2137A>T (p.Lys713Ter) c.2260A>T (p.Lys754Ter) c.1993A>T (p.Lys665Ter) c.1987A>T (p.Lys663Ter) c.1870A>T (p.Lys624Ter) c.2248A>T (p.Lys750Ter) c.1981A>T (p.Lys661Ter) c.1189A>T (p.Lys397Ter) n.2434A>T | dbSNP |
| 8 | g.38414177T>C | CA370728465 | FGFR1 | c.2161A>G (p.Lys721Glu) c.2149A>G (p.Lys717Glu) n.3054A>G n.1401A>G n.851A>G c.2341A>G (p.Lys781Glu) n.2849A>G c.1882A>G (p.Lys628Glu) c.*1807A>G (n.*1807A>G) c.*2128A>G (n.*2128A>G) n.3655A>G c.1888A>G (p.Lys630Glu) c.2131A>G (p.Lys711Glu) c.*1211A>G (n.*1211A>G) c.1894A>G (p.Lys632Glu) c.2155A>G (p.Lys719Glu) c.2254A>G (p.Lys752Glu) n.4440A>G c.361A>G (p.Lys121Glu) c.*1056A>G (n.*1056A>G) c.2137A>G (p.Lys713Glu) c.2260A>G (p.Lys754Glu) c.1993A>G (p.Lys665Glu) c.1987A>G (p.Lys663Glu) c.1870A>G (p.Lys624Glu) c.2248A>G (p.Lys750Glu) c.1981A>G (p.Lys661Glu) c.1189A>G (p.Lys397Glu) n.2434A>G | dbSNP |
| 8 | g.38414177T>G | CA4718169 | FGFR1 | c.2161A>C (p.Lys721Gln) c.2149A>C (p.Lys717Gln) n.3054A>C n.1401A>C n.851A>C c.2341A>C (p.Lys781Gln) n.2849A>C c.1882A>C (p.Lys628Gln) c.*1807A>C (n.*1807A>C) c.*2128A>C (n.*2128A>C) n.3655A>C c.1888A>C (p.Lys630Gln) c.2131A>C (p.Lys711Gln) c.*1211A>C (n.*1211A>C) c.1894A>C (p.Lys632Gln) c.2155A>C (p.Lys719Gln) c.2254A>C (p.Lys752Gln) n.4440A>C c.361A>C (p.Lys121Gln) c.*1056A>C (n.*1056A>C) c.2137A>C (p.Lys713Gln) c.2260A>C (p.Lys754Gln) c.1993A>C (p.Lys665Gln) c.1987A>C (p.Lys663Gln) c.1870A>C (p.Lys624Gln) c.2248A>C (p.Lys750Gln) c.1981A>C (p.Lys661Gln) c.1189A>C (p.Lys397Gln) n.2434A>C | dbSNP ExAC gnomAD v2 |