Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.121517394C>A | CA378328108 | FGFR2 | c.742G>T (p.Ala248Ser) c.1009G>T (p.Ala337Ser) c.1015G>T (p.Ala339Ser) c.664G>T (p.Ala222Ser) c.820+1288G>T (p.=) c.1087+1288G>T (p.=) c.742+1288G>T (p.=) c.939+2585G>T (p.=) c.749-2075G>T (p.=) c.325G>T (p.Ala109Ser) c.*56G>T (p.=) c.1144+1288G>T (p.=) c.1066G>T (p.Ala356Ser) c.877+1288G>T (p.=) c.799+1288G>T (p.=) c.721G>T (p.Ala241Ser) c.799G>T (p.Ala267Ser) c.-162G>T (p.=) | |
10 | g.121517394C>G | CA280240 | FGFR2 | c.742G>C (p.Ala248Pro) c.1009G>C (p.Ala337Pro) c.1015G>C (p.Ala339Pro) c.664G>C (p.Ala222Pro) c.820+1288G>C (p.=) c.1087+1288G>C (p.=) c.742+1288G>C (p.=) c.939+2585G>C (p.=) c.749-2075G>C (p.=) c.325G>C (p.Ala109Pro) c.*56G>C (p.=) c.1144+1288G>C (p.=) c.1066G>C (p.Ala356Pro) c.877+1288G>C (p.=) c.799+1288G>C (p.=) c.721G>C (p.Ala241Pro) c.799G>C (p.Ala267Pro) c.-162G>C (p.=) | ClinVar dbSNP |
10 | g.121517394C>T | CA128691 | FGFR2 | c.742G>A (p.Ala248Thr) c.1009G>A (p.Ala337Thr) c.1015G>A (p.Ala339Thr) c.664G>A (p.Ala222Thr) c.820+1288G>A (p.=) c.1087+1288G>A (p.=) c.742+1288G>A (p.=) c.939+2585G>A (p.=) c.749-2075G>A (p.=) c.325G>A (p.Ala109Thr) c.*56G>A (p.=) c.1144+1288G>A (p.=) c.1066G>A (p.Ala356Thr) c.877+1288G>A (p.=) c.799+1288G>A (p.=) c.721G>A (p.Ala241Thr) c.799G>A (p.Ala267Thr) c.-162G>A (p.=) | ClinVar dbSNP |
10 | g.121517395G>A | CA5720878 | FGFR2 | c.741C>T (p.Asp247=) c.1008C>T (p.Asp336=) c.1014C>T (p.Asp338=) c.663C>T (p.Asp221=) c.820+1287C>T (p.=) c.1087+1287C>T (p.=) c.742+1287C>T (p.=) c.939+2584C>T (p.=) c.749-2076C>T (p.=) c.324C>T (p.Asp108=) c.*55C>T (p.=) c.1144+1287C>T (p.=) c.1065C>T (p.Asp355=) c.877+1287C>T (p.=) c.799+1287C>T (p.=) c.720C>T (p.Asp240=) c.798C>T (p.Asp266=) c.-163C>T (p.=) | dbSNP ExAC gnomAD |
10 | g.121517395G>C | CA378328119 | FGFR2 | c.741C>G (p.Asp247Glu) c.1008C>G (p.Asp336Glu) c.1014C>G (p.Asp338Glu) c.663C>G (p.Asp221Glu) c.820+1287C>G (p.=) c.1087+1287C>G (p.=) c.742+1287C>G (p.=) c.939+2584C>G (p.=) c.749-2076C>G (p.=) c.324C>G (p.Asp108Glu) c.*55C>G (p.=) c.1144+1287C>G (p.=) c.1065C>G (p.Asp355Glu) c.877+1287C>G (p.=) c.799+1287C>G (p.=) c.720C>G (p.Asp240Glu) c.798C>G (p.Asp266Glu) c.-163C>G (p.=) | |
10 | g.121517395G>T | CA378328122 | FGFR2 | c.741C>A (p.Asp247Glu) c.1008C>A (p.Asp336Glu) c.1014C>A (p.Asp338Glu) c.663C>A (p.Asp221Glu) c.820+1287C>A (p.=) c.1087+1287C>A (p.=) c.742+1287C>A (p.=) c.939+2584C>A (p.=) c.749-2076C>A (p.=) c.324C>A (p.Asp108Glu) c.*55C>A (p.=) c.1144+1287C>A (p.=) c.1065C>A (p.Asp355Glu) c.877+1287C>A (p.=) c.799+1287C>A (p.=) c.720C>A (p.Asp240Glu) c.798C>A (p.Asp266Glu) c.-163C>A (p.=) | |
10 | g.121517396T>A | CA378328124 | FGFR2 | c.740A>T (p.Asp247Val) c.1007A>T (p.Asp336Val) c.1013A>T (p.Asp338Val) c.662A>T (p.Asp221Val) c.820+1286A>T (p.=) c.1087+1286A>T (p.=) c.742+1286A>T (p.=) c.939+2583A>T (p.=) c.749-2077A>T (p.=) c.323A>T (p.Asp108Val) c.*54A>T (p.=) c.1144+1286A>T (p.=) c.1064A>T (p.Asp355Val) c.877+1286A>T (p.=) c.799+1286A>T (p.=) c.719A>T (p.Asp240Val) c.797A>T (p.Asp266Val) c.-164A>T (p.=) | |
10 | g.121517396T>C | CA16043913 | FGFR2 | c.740A>G (p.Asp247Gly) c.1007A>G (p.Asp336Gly) c.1013A>G (p.Asp338Gly) c.662A>G (p.Asp221Gly) c.820+1286A>G (p.=) c.1087+1286A>G (p.=) c.742+1286A>G (p.=) c.939+2583A>G (p.=) c.749-2077A>G (p.=) c.323A>G (p.Asp108Gly) c.*54A>G (p.=) c.1144+1286A>G (p.=) c.1064A>G (p.Asp355Gly) c.877+1286A>G (p.=) c.799+1286A>G (p.=) c.719A>G (p.Asp240Gly) c.797A>G (p.Asp266Gly) c.-164A>G (p.=) | ClinVar |
10 | g.121517396T>G | CA378328128 | FGFR2 | c.740A>C (p.Asp247Ala) c.1007A>C (p.Asp336Ala) c.1013A>C (p.Asp338Ala) c.662A>C (p.Asp221Ala) c.820+1286A>C (p.=) c.1087+1286A>C (p.=) c.742+1286A>C (p.=) c.939+2583A>C (p.=) c.749-2077A>C (p.=) c.323A>C (p.Asp108Ala) c.*54A>C (p.=) c.1144+1286A>C (p.=) c.1064A>C (p.Asp355Ala) c.877+1286A>C (p.=) c.799+1286A>C (p.=) c.719A>C (p.Asp240Ala) c.797A>C (p.Asp266Ala) c.-164A>C (p.=) | |
10 | g.121517397C>A | CA378328131 | FGFR2 | c.739G>T (p.Asp247Tyr) c.1006G>T (p.Asp336Tyr) c.1012G>T (p.Asp338Tyr) c.661G>T (p.Asp221Tyr) c.820+1285G>T (p.=) c.1087+1285G>T (p.=) c.742+1285G>T (p.=) c.939+2582G>T (p.=) c.749-2078G>T (p.=) c.322G>T (p.Asp108Tyr) c.*53G>T (p.=) c.1144+1285G>T (p.=) c.1063G>T (p.Asp355Tyr) c.877+1285G>T (p.=) c.799+1285G>T (p.=) c.718G>T (p.Asp240Tyr) c.796G>T (p.Asp266Tyr) c.-165G>T (p.=) | |
10 | g.121517397C>G | CA378328132 | FGFR2 | c.739G>C (p.Asp247His) c.1006G>C (p.Asp336His) c.1012G>C (p.Asp338His) c.661G>C (p.Asp221His) c.820+1285G>C (p.=) c.1087+1285G>C (p.=) c.742+1285G>C (p.=) c.939+2582G>C (p.=) c.749-2078G>C (p.=) c.322G>C (p.Asp108His) c.*53G>C (p.=) c.1144+1285G>C (p.=) c.1063G>C (p.Asp355His) c.877+1285G>C (p.=) c.799+1285G>C (p.=) c.718G>C (p.Asp240His) c.796G>C (p.Asp266His) c.-165G>C (p.=) | |
10 | g.121517397C>T | CA378328133 | FGFR2 | c.739G>A (p.Asp247Asn) c.1006G>A (p.Asp336Asn) c.1012G>A (p.Asp338Asn) c.661G>A (p.Asp221Asn) c.820+1285G>A (p.=) c.1087+1285G>A (p.=) c.742+1285G>A (p.=) c.939+2582G>A (p.=) c.749-2078G>A (p.=) c.322G>A (p.Asp108Asn) c.*53G>A (p.=) c.1144+1285G>A (p.=) c.1063G>A (p.Asp355Asn) c.877+1285G>A (p.=) c.799+1285G>A (p.=) c.718G>A (p.Asp240Asn) c.796G>A (p.Asp266Asn) c.-165G>A (p.=) | |
10 | g.121517398C>A | CA378328135 | FGFR2 | c.738G>T (p.Glu246Asp) c.1005G>T (p.Glu335Asp) c.1011G>T (p.Glu337Asp) c.660G>T (p.Glu220Asp) c.820+1284G>T (p.=) c.1087+1284G>T (p.=) c.742+1284G>T (p.=) c.939+2581G>T (p.=) c.749-2079G>T (p.=) c.321G>T (p.Glu107Asp) c.*52G>T (p.=) c.1144+1284G>T (p.=) c.1062G>T (p.Glu354Asp) c.877+1284G>T (p.=) c.799+1284G>T (p.=) c.717G>T (p.Glu239Asp) c.795G>T (p.Glu265Asp) c.-166G>T (p.=) | COSMIC COSMIC COSMIC |
10 | g.121517398C>G | CA378328139 | FGFR2 | c.738G>C (p.Glu246Asp) c.1005G>C (p.Glu335Asp) c.1011G>C (p.Glu337Asp) c.660G>C (p.Glu220Asp) c.820+1284G>C (p.=) c.1087+1284G>C (p.=) c.742+1284G>C (p.=) c.939+2581G>C (p.=) c.749-2079G>C (p.=) c.321G>C (p.Glu107Asp) c.*52G>C (p.=) c.1144+1284G>C (p.=) c.1062G>C (p.Glu354Asp) c.877+1284G>C (p.=) c.799+1284G>C (p.=) c.717G>C (p.Glu239Asp) c.795G>C (p.Glu265Asp) c.-166G>C (p.=) | |
10 | g.121517399T>A | CA378328152 | FGFR2 | c.737A>T (p.Glu246Val) c.1004A>T (p.Glu335Val) c.1010A>T (p.Glu337Val) c.659A>T (p.Glu220Val) c.820+1283A>T (p.=) c.1087+1283A>T (p.=) c.742+1283A>T (p.=) c.939+2580A>T (p.=) c.749-2080A>T (p.=) c.320A>T (p.Glu107Val) c.*51A>T (p.=) c.1144+1283A>T (p.=) c.1061A>T (p.Glu354Val) c.877+1283A>T (p.=) c.799+1283A>T (p.=) c.716A>T (p.Glu239Val) c.794A>T (p.Glu265Val) c.-167A>T (p.=) | |
10 | g.121517399T>C | CA378328149 | FGFR2 | c.737A>G (p.Glu246Gly) c.1004A>G (p.Glu335Gly) c.1010A>G (p.Glu337Gly) c.659A>G (p.Glu220Gly) c.820+1283A>G (p.=) c.1087+1283A>G (p.=) c.742+1283A>G (p.=) c.939+2580A>G (p.=) c.749-2080A>G (p.=) c.320A>G (p.Glu107Gly) c.*51A>G (p.=) c.1144+1283A>G (p.=) c.1061A>G (p.Glu354Gly) c.877+1283A>G (p.=) c.799+1283A>G (p.=) c.716A>G (p.Glu239Gly) c.794A>G (p.Glu265Gly) c.-167A>G (p.=) | |
10 | g.121517399T>G | CA378328143 | FGFR2 | c.737A>C (p.Glu246Ala) c.1004A>C (p.Glu335Ala) c.1010A>C (p.Glu337Ala) c.659A>C (p.Glu220Ala) c.820+1283A>C (p.=) c.1087+1283A>C (p.=) c.742+1283A>C (p.=) c.939+2580A>C (p.=) c.749-2080A>C (p.=) c.320A>C (p.Glu107Ala) c.*51A>C (p.=) c.1144+1283A>C (p.=) c.1061A>C (p.Glu354Ala) c.877+1283A>C (p.=) c.799+1283A>C (p.=) c.716A>C (p.Glu239Ala) c.794A>C (p.Glu265Ala) c.-167A>C (p.=) | |
10 | g.121517400C>A | CA378328156 | FGFR2 | c.736G>T (p.Glu246Ter) c.1003G>T (p.Glu335Ter) c.1009G>T (p.Glu337Ter) c.658G>T (p.Glu220Ter) c.820+1282G>T (p.=) c.1087+1282G>T (p.=) c.742+1282G>T (p.=) c.939+2579G>T (p.=) c.749-2081G>T (p.=) c.319G>T (p.Glu107Ter) c.*50G>T (p.=) c.1144+1282G>T (p.=) c.1060G>T (p.Glu354Ter) c.877+1282G>T (p.=) c.799+1282G>T (p.=) c.715G>T (p.Glu239Ter) c.793G>T (p.Glu265Ter) c.-168G>T (p.=) | |
10 | g.121517400C>G | CA378328162 | FGFR2 | c.736G>C (p.Glu246Gln) c.1003G>C (p.Glu335Gln) c.1009G>C (p.Glu337Gln) c.658G>C (p.Glu220Gln) c.820+1282G>C (p.=) c.1087+1282G>C (p.=) c.742+1282G>C (p.=) c.939+2579G>C (p.=) c.749-2081G>C (p.=) c.319G>C (p.Glu107Gln) c.*50G>C (p.=) c.1144+1282G>C (p.=) c.1060G>C (p.Glu354Gln) c.877+1282G>C (p.=) c.799+1282G>C (p.=) c.715G>C (p.Glu239Gln) c.793G>C (p.Glu265Gln) c.-168G>C (p.=) | |
10 | g.121517400C>T | CA378328159 | FGFR2 | c.736G>A (p.Glu246Lys) c.1003G>A (p.Glu335Lys) c.1009G>A (p.Glu337Lys) c.658G>A (p.Glu220Lys) c.820+1282G>A (p.=) c.1087+1282G>A (p.=) c.742+1282G>A (p.=) c.939+2579G>A (p.=) c.749-2081G>A (p.=) c.319G>A (p.Glu107Lys) c.*50G>A (p.=) c.1144+1282G>A (p.=) c.1060G>A (p.Glu354Lys) c.877+1282G>A (p.=) c.799+1282G>A (p.=) c.715G>A (p.Glu239Lys) c.793G>A (p.Glu265Lys) c.-168G>A (p.=) | |
10 | g.121517401A>C | CA378328165 | FGFR2 | c.735T>G (p.Phe245Leu) c.1002T>G (p.Phe334Leu) c.1008T>G (p.Phe336Leu) c.657T>G (p.Phe219Leu) c.820+1281T>G (p.=) c.1087+1281T>G (p.=) c.742+1281T>G (p.=) c.939+2578T>G (p.=) c.749-2082T>G (p.=) c.318T>G (p.Phe106Leu) c.*49T>G (p.=) c.1144+1281T>G (p.=) c.1059T>G (p.Phe353Leu) c.877+1281T>G (p.=) c.799+1281T>G (p.=) c.714T>G (p.Phe238Leu) c.792T>G (p.Phe264Leu) c.-169T>G (p.=) | |
10 | g.121517401A>G | CA214310228 | FGFR2 | c.735T>C (p.Phe245=) c.1002T>C (p.Phe334=) c.1008T>C (p.Phe336=) c.657T>C (p.Phe219=) c.820+1281T>C (p.=) c.1087+1281T>C (p.=) c.742+1281T>C (p.=) c.939+2578T>C (p.=) c.749-2082T>C (p.=) c.318T>C (p.Phe106=) c.*49T>C (p.=) c.1144+1281T>C (p.=) c.1059T>C (p.Phe353=) c.877+1281T>C (p.=) c.799+1281T>C (p.=) c.714T>C (p.Phe238=) c.792T>C (p.Phe264=) c.-169T>C (p.=) | dbSNP gnomAD |
10 | g.121517401A>T | CA378328166 | FGFR2 | c.735T>A (p.Phe245Leu) c.1002T>A (p.Phe334Leu) c.1008T>A (p.Phe336Leu) c.657T>A (p.Phe219Leu) c.820+1281T>A (p.=) c.1087+1281T>A (p.=) c.742+1281T>A (p.=) c.939+2578T>A (p.=) c.749-2082T>A (p.=) c.318T>A (p.Phe106Leu) c.*49T>A (p.=) c.1144+1281T>A (p.=) c.1059T>A (p.Phe353Leu) c.877+1281T>A (p.=) c.799+1281T>A (p.=) c.714T>A (p.Phe238Leu) c.792T>A (p.Phe264Leu) c.-169T>A (p.=) | |
10 | g.121517402A>C | CA378328168 | FGFR2 | c.734T>G (p.Phe245Cys) c.1001T>G (p.Phe334Cys) c.1007T>G (p.Phe336Cys) c.656T>G (p.Phe219Cys) c.820+1280T>G (p.=) c.1087+1280T>G (p.=) c.742+1280T>G (p.=) c.939+2577T>G (p.=) c.749-2083T>G (p.=) c.317T>G (p.Phe106Cys) c.*48T>G (p.=) c.1144+1280T>G (p.=) c.1058T>G (p.Phe353Cys) c.877+1280T>G (p.=) c.799+1280T>G (p.=) c.713T>G (p.Phe238Cys) c.791T>G (p.Phe264Cys) c.-170T>G (p.=) | |
10 | g.121517402A>G | CA378328170 | FGFR2 | c.734T>C (p.Phe245Ser) c.1001T>C (p.Phe334Ser) c.1007T>C (p.Phe336Ser) c.656T>C (p.Phe219Ser) c.820+1280T>C (p.=) c.1087+1280T>C (p.=) c.742+1280T>C (p.=) c.939+2577T>C (p.=) c.749-2083T>C (p.=) c.317T>C (p.Phe106Ser) c.*48T>C (p.=) c.1144+1280T>C (p.=) c.1058T>C (p.Phe353Ser) c.877+1280T>C (p.=) c.799+1280T>C (p.=) c.713T>C (p.Phe238Ser) c.791T>C (p.Phe264Ser) c.-170T>C (p.=) | |
10 | g.121517402A>T | CA5720879 | FGFR2 | c.734T>A (p.Phe245Tyr) c.1001T>A (p.Phe334Tyr) c.1007T>A (p.Phe336Tyr) c.656T>A (p.Phe219Tyr) c.820+1280T>A (p.=) c.1087+1280T>A (p.=) c.742+1280T>A (p.=) c.939+2577T>A (p.=) c.749-2083T>A (p.=) c.317T>A (p.Phe106Tyr) c.*48T>A (p.=) c.1144+1280T>A (p.=) c.1058T>A (p.Phe353Tyr) c.877+1280T>A (p.=) c.799+1280T>A (p.=) c.713T>A (p.Phe238Tyr) c.791T>A (p.Phe264Tyr) c.-170T>A (p.=) | dbSNP ExAC gnomAD |
10 | g.121517403A>C | CA378328179 | FGFR2 | c.733T>G (p.Phe245Val) c.1000T>G (p.Phe334Val) c.1006T>G (p.Phe336Val) c.655T>G (p.Phe219Val) c.820+1279T>G (p.=) c.1087+1279T>G (p.=) c.742+1279T>G (p.=) c.939+2576T>G (p.=) c.749-2084T>G (p.=) c.316T>G (p.Phe106Val) c.*47T>G (p.=) c.1144+1279T>G (p.=) c.1057T>G (p.Phe353Val) c.877+1279T>G (p.=) c.799+1279T>G (p.=) c.712T>G (p.Phe238Val) c.790T>G (p.Phe264Val) c.-171T>G (p.=) | |
10 | g.121517403A>G | CA378328180 | FGFR2 | c.733T>C (p.Phe245Leu) c.1000T>C (p.Phe334Leu) c.1006T>C (p.Phe336Leu) c.655T>C (p.Phe219Leu) c.820+1279T>C (p.=) c.1087+1279T>C (p.=) c.742+1279T>C (p.=) c.939+2576T>C (p.=) c.749-2084T>C (p.=) c.316T>C (p.Phe106Leu) c.*47T>C (p.=) c.1144+1279T>C (p.=) c.1057T>C (p.Phe353Leu) c.877+1279T>C (p.=) c.799+1279T>C (p.=) c.712T>C (p.Phe238Leu) c.790T>C (p.Phe264Leu) c.-171T>C (p.=) | |
10 | g.121517403A>T | CA378328184 | FGFR2 | c.733T>A (p.Phe245Ile) c.1000T>A (p.Phe334Ile) c.1006T>A (p.Phe336Ile) c.655T>A (p.Phe219Ile) c.820+1279T>A (p.=) c.1087+1279T>A (p.=) c.742+1279T>A (p.=) c.939+2576T>A (p.=) c.749-2084T>A (p.=) c.316T>A (p.Phe106Ile) c.*47T>A (p.=) c.1144+1279T>A (p.=) c.1057T>A (p.Phe353Ile) c.877+1279T>A (p.=) c.799+1279T>A (p.=) c.712T>A (p.Phe238Ile) c.790T>A (p.Phe264Ile) c.-171T>A (p.=) | |
10 | g.121517405G>A | CA378328189 | FGFR2 | c.731C>T (p.Thr244Ile) c.998C>T (p.Thr333Ile) c.1004C>T (p.Thr335Ile) c.653C>T (p.Thr218Ile) c.820+1277C>T (p.=) c.1087+1277C>T (p.=) c.742+1277C>T (p.=) c.939+2574C>T (p.=) c.749-2086C>T (p.=) c.314C>T (p.Thr105Ile) c.*45C>T (p.=) c.1144+1277C>T (p.=) c.1055C>T (p.Thr352Ile) c.877+1277C>T (p.=) c.799+1277C>T (p.=) c.710C>T (p.Thr237Ile) c.788C>T (p.Thr263Ile) c.-173C>T (p.=) | |
10 | g.121517405G>C | CA378328191 | FGFR2 | c.731C>G (p.Thr244Ser) c.998C>G (p.Thr333Ser) c.1004C>G (p.Thr335Ser) c.653C>G (p.Thr218Ser) c.820+1277C>G (p.=) c.1087+1277C>G (p.=) c.742+1277C>G (p.=) c.939+2574C>G (p.=) c.749-2086C>G (p.=) c.314C>G (p.Thr105Ser) c.*45C>G (p.=) c.1144+1277C>G (p.=) c.1055C>G (p.Thr352Ser) c.877+1277C>G (p.=) c.799+1277C>G (p.=) c.710C>G (p.Thr237Ser) c.788C>G (p.Thr263Ser) c.-173C>G (p.=) | |
10 | g.121517405G>T | CA378328194 | FGFR2 | c.731C>A (p.Thr244Asn) c.998C>A (p.Thr333Asn) c.1004C>A (p.Thr335Asn) c.653C>A (p.Thr218Asn) c.820+1277C>A (p.=) c.1087+1277C>A (p.=) c.742+1277C>A (p.=) c.939+2574C>A (p.=) c.749-2086C>A (p.=) c.314C>A (p.Thr105Asn) c.*45C>A (p.=) c.1144+1277C>A (p.=) c.1055C>A (p.Thr352Asn) c.877+1277C>A (p.=) c.799+1277C>A (p.=) c.710C>A (p.Thr237Asn) c.788C>A (p.Thr263Asn) c.-173C>A (p.=) | |
10 | g.121517406T>A | CA378328200 | FGFR2 | c.730A>T (p.Thr244Ser) c.997A>T (p.Thr333Ser) c.1003A>T (p.Thr335Ser) c.652A>T (p.Thr218Ser) c.820+1276A>T (p.=) c.1087+1276A>T (p.=) c.742+1276A>T (p.=) c.939+2573A>T (p.=) c.749-2087A>T (p.=) c.313A>T (p.Thr105Ser) c.*44A>T (p.=) c.1144+1276A>T (p.=) c.1054A>T (p.Thr352Ser) c.877+1276A>T (p.=) c.799+1276A>T (p.=) c.709A>T (p.Thr237Ser) c.787A>T (p.Thr263Ser) c.-174A>T (p.=) | |
10 | g.121517406T>C | CA378328204 | FGFR2 | c.730A>G (p.Thr244Ala) c.997A>G (p.Thr333Ala) c.1003A>G (p.Thr335Ala) c.652A>G (p.Thr218Ala) c.820+1276A>G (p.=) c.1087+1276A>G (p.=) c.742+1276A>G (p.=) c.939+2573A>G (p.=) c.749-2087A>G (p.=) c.313A>G (p.Thr105Ala) c.*44A>G (p.=) c.1144+1276A>G (p.=) c.1054A>G (p.Thr352Ala) c.877+1276A>G (p.=) c.799+1276A>G (p.=) c.709A>G (p.Thr237Ala) c.787A>G (p.Thr263Ala) c.-174A>G (p.=) | |
10 | g.121517406T>G | CA378328203 | FGFR2 | c.730A>C (p.Thr244Pro) c.997A>C (p.Thr333Pro) c.1003A>C (p.Thr335Pro) c.652A>C (p.Thr218Pro) c.820+1276A>C (p.=) c.1087+1276A>C (p.=) c.742+1276A>C (p.=) c.939+2573A>C (p.=) c.749-2087A>C (p.=) c.313A>C (p.Thr105Pro) c.*44A>C (p.=) c.1144+1276A>C (p.=) c.1054A>C (p.Thr352Pro) c.877+1276A>C (p.=) c.799+1276A>C (p.=) c.709A>C (p.Thr237Pro) c.787A>C (p.Thr263Pro) c.-174A>C (p.=) | |
10 | g.121517407T>C | CA596347242 | FGFR2 | c.729A>G (p.Val243=) c.996A>G (p.Val332=) c.1002A>G (p.Val334=) c.651A>G (p.Val217=) c.820+1275A>G (p.=) c.1087+1275A>G (p.=) c.742+1275A>G (p.=) c.939+2572A>G (p.=) c.749-2088A>G (p.=) c.312A>G (p.Val104=) c.*43A>G (p.=) c.1144+1275A>G (p.=) c.1053A>G (p.Val351=) c.877+1275A>G (p.=) c.799+1275A>G (p.=) c.708A>G (p.Val236=) c.786A>G (p.Val262=) c.-175A>G (p.=) | gnomAD |
10 | g.121517408A>C | CA378328205 | FGFR2 | c.728T>G (p.Val243Gly) c.995T>G (p.Val332Gly) c.1001T>G (p.Val334Gly) c.650T>G (p.Val217Gly) c.820+1274T>G (p.=) c.1087+1274T>G (p.=) c.742+1274T>G (p.=) c.939+2571T>G (p.=) c.749-2089T>G (p.=) c.311T>G (p.Val104Gly) c.*42T>G (p.=) c.1144+1274T>G (p.=) c.1052T>G (p.Val351Gly) c.877+1274T>G (p.=) c.799+1274T>G (p.=) c.707T>G (p.Val236Gly) c.785T>G (p.Val262Gly) c.-176T>G (p.=) | |
10 | g.121517408A>G | CA378328206 | FGFR2 | c.728T>C (p.Val243Ala) c.995T>C (p.Val332Ala) c.1001T>C (p.Val334Ala) c.650T>C (p.Val217Ala) c.820+1274T>C (p.=) c.1087+1274T>C (p.=) c.742+1274T>C (p.=) c.939+2571T>C (p.=) c.749-2089T>C (p.=) c.311T>C (p.Val104Ala) c.*42T>C (p.=) c.1144+1274T>C (p.=) c.1052T>C (p.Val351Ala) c.877+1274T>C (p.=) c.799+1274T>C (p.=) c.707T>C (p.Val236Ala) c.785T>C (p.Val262Ala) c.-176T>C (p.=) | |
10 | g.121517408A>T | CA378328207 | FGFR2 | c.728T>A (p.Val243Glu) c.995T>A (p.Val332Glu) c.1001T>A (p.Val334Glu) c.650T>A (p.Val217Glu) c.820+1274T>A (p.=) c.1087+1274T>A (p.=) c.742+1274T>A (p.=) c.939+2571T>A (p.=) c.749-2089T>A (p.=) c.311T>A (p.Val104Glu) c.*42T>A (p.=) c.1144+1274T>A (p.=) c.1052T>A (p.Val351Glu) c.877+1274T>A (p.=) c.799+1274T>A (p.=) c.707T>A (p.Val236Glu) c.785T>A (p.Val262Glu) c.-176T>A (p.=) | |
10 | g.121517409C>A | CA378328210 | FGFR2 | c.727G>T (p.Val243Leu) c.994G>T (p.Val332Leu) c.1000G>T (p.Val334Leu) c.649G>T (p.Val217Leu) c.820+1273G>T (p.=) c.1087+1273G>T (p.=) c.742+1273G>T (p.=) c.939+2570G>T (p.=) c.749-2090G>T (p.=) c.310G>T (p.Val104Leu) c.*41G>T (p.=) c.1144+1273G>T (p.=) c.1051G>T (p.Val351Leu) c.877+1273G>T (p.=) c.799+1273G>T (p.=) c.706G>T (p.Val236Leu) c.784G>T (p.Val262Leu) c.-177G>T (p.=) | |
10 | g.121517409C>G | CA378328212 | FGFR2 | c.727G>C (p.Val243Leu) c.994G>C (p.Val332Leu) c.1000G>C (p.Val334Leu) c.649G>C (p.Val217Leu) c.820+1273G>C (p.=) c.1087+1273G>C (p.=) c.742+1273G>C (p.=) c.939+2570G>C (p.=) c.749-2090G>C (p.=) c.310G>C (p.Val104Leu) c.*41G>C (p.=) c.1144+1273G>C (p.=) c.1051G>C (p.Val351Leu) c.877+1273G>C (p.=) c.799+1273G>C (p.=) c.706G>C (p.Val236Leu) c.784G>C (p.Val262Leu) c.-177G>C (p.=) | |
10 | g.121517409C>T | CA378328217 | FGFR2 | c.727G>A (p.Val243Ile) c.994G>A (p.Val332Ile) c.1000G>A (p.Val334Ile) c.649G>A (p.Val217Ile) c.820+1273G>A (p.=) c.1087+1273G>A (p.=) c.742+1273G>A (p.=) c.939+2570G>A (p.=) c.749-2090G>A (p.=) c.310G>A (p.Val104Ile) c.*41G>A (p.=) c.1144+1273G>A (p.=) c.1051G>A (p.Val351Ile) c.877+1273G>A (p.=) c.799+1273G>A (p.=) c.706G>A (p.Val236Ile) c.784G>A (p.Val262Ile) c.-177G>A (p.=) | |
10 | g.121517410A>C | CA378328221 | FGFR2 | c.726T>G (p.Asn242Lys) c.993T>G (p.Asn331Lys) c.999T>G (p.Asn333Lys) c.648T>G (p.Asn216Lys) c.820+1272T>G (p.=) c.1087+1272T>G (p.=) c.742+1272T>G (p.=) c.939+2569T>G (p.=) c.749-2091T>G (p.=) c.309T>G (p.Asn103Lys) c.*40T>G (p.=) c.1144+1272T>G (p.=) c.1050T>G (p.Asn350Lys) c.877+1272T>G (p.=) c.799+1272T>G (p.=) c.705T>G (p.Asn235Lys) c.783T>G (p.Asn261Lys) c.-178T>G (p.=) | |
10 | g.121517410A>G | CA5720880 | FGFR2 | c.726T>C (p.Asn242=) c.993T>C (p.Asn331=) c.999T>C (p.Asn333=) c.648T>C (p.Asn216=) c.820+1272T>C (p.=) c.1087+1272T>C (p.=) c.742+1272T>C (p.=) c.939+2569T>C (p.=) c.749-2091T>C (p.=) c.309T>C (p.Asn103=) c.*40T>C (p.=) c.1144+1272T>C (p.=) c.1050T>C (p.Asn350=) c.877+1272T>C (p.=) c.799+1272T>C (p.=) c.705T>C (p.Asn235=) c.783T>C (p.Asn261=) c.-178T>C (p.=) | dbSNP ExAC gnomAD |
10 | g.121517410A>T | CA378328226 | FGFR2 | c.726T>A (p.Asn242Lys) c.993T>A (p.Asn331Lys) c.999T>A (p.Asn333Lys) c.648T>A (p.Asn216Lys) c.820+1272T>A (p.=) c.1087+1272T>A (p.=) c.742+1272T>A (p.=) c.939+2569T>A (p.=) c.749-2091T>A (p.=) c.309T>A (p.Asn103Lys) c.*40T>A (p.=) c.1144+1272T>A (p.=) c.1050T>A (p.Asn350Lys) c.877+1272T>A (p.=) c.799+1272T>A (p.=) c.705T>A (p.Asn235Lys) c.783T>A (p.Asn261Lys) c.-178T>A (p.=) | |
10 | g.121517411T>A | CA378328239 | FGFR2 | c.725A>T (p.Asn242Ile) c.992A>T (p.Asn331Ile) c.998A>T (p.Asn333Ile) c.647A>T (p.Asn216Ile) c.820+1271A>T (p.=) c.1087+1271A>T (p.=) c.742+1271A>T (p.=) c.939+2568A>T (p.=) c.749-2092A>T (p.=) c.308A>T (p.Asn103Ile) c.*39A>T (p.=) c.1144+1271A>T (p.=) c.1049A>T (p.Asn350Ile) c.877+1271A>T (p.=) c.799+1271A>T (p.=) c.704A>T (p.Asn235Ile) c.782A>T (p.Asn261Ile) c.-179A>T (p.=) | |
10 | g.121517411T>C | CA378328241 | FGFR2 | c.725A>G (p.Asn242Ser) c.992A>G (p.Asn331Ser) c.998A>G (p.Asn333Ser) c.647A>G (p.Asn216Ser) c.820+1271A>G (p.=) c.1087+1271A>G (p.=) c.742+1271A>G (p.=) c.939+2568A>G (p.=) c.749-2092A>G (p.=) c.308A>G (p.Asn103Ser) c.*39A>G (p.=) c.1144+1271A>G (p.=) c.1049A>G (p.Asn350Ser) c.877+1271A>G (p.=) c.799+1271A>G (p.=) c.704A>G (p.Asn235Ser) c.782A>G (p.Asn261Ser) c.-179A>G (p.=) | |
10 | g.121517411T>G | CA378328230 | FGFR2 | c.725A>C (p.Asn242Thr) c.992A>C (p.Asn331Thr) c.998A>C (p.Asn333Thr) c.647A>C (p.Asn216Thr) c.820+1271A>C (p.=) c.1087+1271A>C (p.=) c.742+1271A>C (p.=) c.939+2568A>C (p.=) c.749-2092A>C (p.=) c.308A>C (p.Asn103Thr) c.*39A>C (p.=) c.1144+1271A>C (p.=) c.1049A>C (p.Asn350Thr) c.877+1271A>C (p.=) c.799+1271A>C (p.=) c.704A>C (p.Asn235Thr) c.782A>C (p.Asn261Thr) c.-179A>C (p.=) | |
10 | g.121517412T>A | CA378328245 | FGFR2 | c.724A>T (p.Asn242Tyr) c.991A>T (p.Asn331Tyr) c.997A>T (p.Asn333Tyr) c.646A>T (p.Asn216Tyr) c.820+1270A>T (p.=) c.1087+1270A>T (p.=) c.742+1270A>T (p.=) c.939+2567A>T (p.=) c.749-2093A>T (p.=) c.307A>T (p.Asn103Tyr) c.*38A>T (p.=) c.1144+1270A>T (p.=) c.1048A>T (p.Asn350Tyr) c.877+1270A>T (p.=) c.799+1270A>T (p.=) c.703A>T (p.Asn235Tyr) c.781A>T (p.Asn261Tyr) c.-180A>T (p.=) | |
10 | g.121517412T>C | CA378328248 | FGFR2 | c.724A>G (p.Asn242Asp) c.991A>G (p.Asn331Asp) c.997A>G (p.Asn333Asp) c.646A>G (p.Asn216Asp) c.820+1270A>G (p.=) c.1087+1270A>G (p.=) c.742+1270A>G (p.=) c.939+2567A>G (p.=) c.749-2093A>G (p.=) c.307A>G (p.Asn103Asp) c.*38A>G (p.=) c.1144+1270A>G (p.=) c.1048A>G (p.Asn350Asp) c.877+1270A>G (p.=) c.799+1270A>G (p.=) c.703A>G (p.Asn235Asp) c.781A>G (p.Asn261Asp) c.-180A>G (p.=) |