Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.154569701C>A | CA442013480 | FGB | c.1146C>A (p.Ala382=) n.939+394C>A c.489C>A (p.Ala163=) c.969C>A (p.Ala323=) c.1014C>A (p.Ala338=) c.846C>A (p.Ala282=) c.1137C>A (p.Ala379=) c.1080+66C>A (n.1080+66C>A) | |
4 | g.154569701C= | CA1504935513 | FGB | c.1146C= (p.Ala382=) n.939+394C= c.489C= (p.Ala163=) c.969C= (p.Ala323=) c.1014C= (p.Ala338=) c.846C= (p.Ala282=) c.1137C= (p.Ala379=) c.1080+66C= (n.1080+66C=) | |
4 | g.154569701C>G | CA442013482 | FGB | c.1146C>G (p.Ala382=) n.939+394C>G c.489C>G (p.Ala163=) c.969C>G (p.Ala323=) c.1014C>G (p.Ala338=) c.846C>G (p.Ala282=) c.1137C>G (p.Ala379=) c.1080+66C>G (n.1080+66C>G) | |
4 | g.154569701C>T | CA442013483 | FGB | c.1146C>T (p.Ala382=) n.939+394C>T c.489C>T (p.Ala163=) c.969C>T (p.Ala323=) c.1014C>T (p.Ala338=) c.846C>T (p.Ala282=) c.1137C>T (p.Ala379=) c.1080+66C>T (n.1080+66C>T) | dbSNP |
4 | g.154569702C>A | CA358515282 | FGB | c.1147C>A (p.Leu383Ile) n.939+395C>A c.490C>A (p.Leu164Ile) c.970C>A (p.Leu324Ile) c.1015C>A (p.Leu339Ile) c.847C>A (p.Leu283Ile) c.1138C>A (p.Leu380Ile) c.1080+67C>A (n.1080+67C>A) | |
4 | g.154569702C= | CA1504935514 | FGB | c.1147C= (p.Leu383=) n.939+395C= c.490C= (p.Leu164=) c.970C= (p.Leu324=) c.1015C= (p.Leu339=) c.847C= (p.Leu283=) c.1138C= (p.Leu380=) c.1080+67C= (n.1080+67C=) | |
4 | g.154569702C>G | CA3114730 | FGB | c.1147C>G (p.Leu383Val) n.939+395C>G c.490C>G (p.Leu164Val) c.970C>G (p.Leu324Val) c.1015C>G (p.Leu339Val) c.847C>G (p.Leu283Val) c.1138C>G (p.Leu380Val) c.1080+67C>G (n.1080+67C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.154569702C>T | CA358515284 | FGB | c.1147C>T (p.Leu383Phe) n.939+395C>T c.490C>T (p.Leu164Phe) c.970C>T (p.Leu324Phe) c.1015C>T (p.Leu339Phe) c.847C>T (p.Leu283Phe) c.1138C>T (p.Leu380Phe) c.1080+67C>T (n.1080+67C>T) | |
4 | g.154569704_154569724dup | CA2672441503 | FGB | c.1149_1169dup (p.Leu390_Met391insMetAspGlyAlaSerGlnLeu) n.939+397_939+417dup c.492_512dup (p.Leu171_Met172insMetAspGlyAlaSerGlnLeu) c.972_992dup (p.Leu331_Met332insMetAspGlyAlaSerGlnLeu) c.1017_1037dup (p.Leu346_Met347insMetAspGlyAlaSerGlnLeu) c.849_869dup (p.Leu290_Met291insMetAspGlyAlaSerGlnLeu) c.1140_1160dup (p.Leu387_Met388insMetAspGlyAlaSerGlnLeu) c.1081-69_1081-49dup (n.1081-69_1081-49dup) | gnomAD v4 |
4 | g.154569703T>A | CA358515287 | FGB | c.1148T>A (p.Leu383His) n.939+396T>A c.491T>A (p.Leu164His) c.971T>A (p.Leu324His) c.1016T>A (p.Leu339His) c.848T>A (p.Leu283His) c.1139T>A (p.Leu380His) c.1080+68T>A (n.1080+68T>A) | |
4 | g.154569703T>C | CA358515286 | FGB | c.1148T>C (p.Leu383Pro) n.939+396T>C c.491T>C (p.Leu164Pro) c.971T>C (p.Leu324Pro) c.1016T>C (p.Leu339Pro) c.848T>C (p.Leu283Pro) c.1139T>C (p.Leu380Pro) c.1080+68T>C (n.1080+68T>C) | |
4 | g.154569703T>G | CA126442 | FGB | c.1148T>G (p.Leu383Arg) n.939+396T>G c.491T>G (p.Leu164Arg) c.971T>G (p.Leu324Arg) c.1016T>G (p.Leu339Arg) c.848T>G (p.Leu283Arg) c.1139T>G (p.Leu380Arg) c.1080+68T>G (n.1080+68T>G) | ClinVar dbSNP |
4 | g.154569703T= | CA1504935521 | FGB | c.1148T= (p.Leu383=) n.939+396T= c.491T= (p.Leu164=) c.971T= (p.Leu324=) c.1016T= (p.Leu339=) c.848T= (p.Leu283=) c.1139T= (p.Leu380=) c.1080+68T= (n.1080+68T=) | |
4 | g.154569704C>A | CA442013488 | FGB | c.1149C>A (p.Leu383=) n.939+397C>A c.492C>A (p.Leu164=) c.972C>A (p.Leu324=) c.1017C>A (p.Leu339=) c.849C>A (p.Leu283=) c.1140C>A (p.Leu380=) c.1081-69C>A (n.1081-69C>A) | |
4 | g.154569704C= | CA1504935526 | FGB | c.1149C= (p.Leu383=) n.939+397C= c.492C= (p.Leu164=) c.972C= (p.Leu324=) c.1017C= (p.Leu339=) c.849C= (p.Leu283=) c.1140C= (p.Leu380=) c.1081-69C= (n.1081-69C=) | |
4 | g.154569704C>G | CA442013489 | FGB | c.1149C>G (p.Leu383=) n.939+397C>G c.492C>G (p.Leu164=) c.972C>G (p.Leu324=) c.1017C>G (p.Leu339=) c.849C>G (p.Leu283=) c.1140C>G (p.Leu380=) c.1081-69C>G (n.1081-69C>G) | |
4 | g.154569704C>T | CA108751707 | FGB | c.1149C>T (p.Leu383=) n.939+397C>T c.492C>T (p.Leu164=) c.972C>T (p.Leu324=) c.1017C>T (p.Leu339=) c.849C>T (p.Leu283=) c.1140C>T (p.Leu380=) c.1081-69C>T (n.1081-69C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569705A= | CA1504935530 | FGB | c.1150A= (p.Met384=) n.939+398A= c.493A= (p.Met165=) c.973A= (p.Met325=) c.1018A= (p.Met340=) c.850A= (p.Met284=) c.1141A= (p.Met381=) c.1081-68A= (n.1081-68A=) | |
4 | g.154569705A>C | CA358515291 | FGB | c.1150A>C (p.Met384Leu) n.939+398A>C c.493A>C (p.Met165Leu) c.973A>C (p.Met325Leu) c.1018A>C (p.Met340Leu) c.850A>C (p.Met284Leu) c.1141A>C (p.Met381Leu) c.1081-68A>C (n.1081-68A>C) | |
4 | g.154569705A>G | CA358515292 | FGB | c.1150A>G (p.Met384Val) n.939+398A>G c.493A>G (p.Met165Val) c.973A>G (p.Met325Val) c.1018A>G (p.Met340Val) c.850A>G (p.Met284Val) c.1141A>G (p.Met381Val) c.1081-68A>G (n.1081-68A>G) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
4 | g.154569705A>T | CA358515294 | FGB | c.1150A>T (p.Met384Leu) n.939+398A>T c.493A>T (p.Met165Leu) c.973A>T (p.Met325Leu) c.1018A>T (p.Met340Leu) c.850A>T (p.Met284Leu) c.1141A>T (p.Met381Leu) c.1081-68A>T (n.1081-68A>T) | |
4 | g.154569706T>A | CA358515296 | FGB | c.1151T>A (p.Met384Lys) n.939+399T>A c.494T>A (p.Met165Lys) c.974T>A (p.Met325Lys) c.1019T>A (p.Met340Lys) c.851T>A (p.Met284Lys) c.1142T>A (p.Met381Lys) c.1081-67T>A (n.1081-67T>A) | |
4 | g.154569706T>C | CA358515298 | FGB | c.1151T>C (p.Met384Thr) n.939+399T>C c.494T>C (p.Met165Thr) c.974T>C (p.Met325Thr) c.1019T>C (p.Met340Thr) c.851T>C (p.Met284Thr) c.1142T>C (p.Met381Thr) c.1081-67T>C (n.1081-67T>C) | gnomAD v4 |
4 | g.154569706T>G | CA358515299 | FGB | c.1151T>G (p.Met384Arg) n.939+399T>G c.494T>G (p.Met165Arg) c.974T>G (p.Met325Arg) c.1019T>G (p.Met340Arg) c.851T>G (p.Met284Arg) c.1142T>G (p.Met381Arg) c.1081-67T>G (n.1081-67T>G) | |
4 | g.154569707G>A | CA358515300 | FGB | c.1152G>A (p.Met384Ile) n.939+400G>A c.495G>A (p.Met165Ile) c.975G>A (p.Met325Ile) c.1020G>A (p.Met340Ile) c.852G>A (p.Met284Ile) c.1143G>A (p.Met381Ile) c.1081-66G>A (n.1081-66G>A) | |
4 | g.154569707G>C | CA358515301 | FGB | c.1152G>C (p.Met384Ile) n.939+400G>C c.495G>C (p.Met165Ile) c.975G>C (p.Met325Ile) c.1020G>C (p.Met340Ile) c.852G>C (p.Met284Ile) c.1143G>C (p.Met381Ile) c.1081-66G>C (n.1081-66G>C) | |
4 | g.154569707G= | CA1504935534 | FGB | c.1152G= (p.Met384=) n.939+400G= c.495G= (p.Met165=) c.975G= (p.Met325=) c.1020G= (p.Met340=) c.852G= (p.Met284=) c.1143G= (p.Met381=) c.1081-66G= (n.1081-66G=) | |
4 | g.154569707G>T | CA3114731 | FGB | c.1152G>T (p.Met384Ile) n.939+400G>T c.495G>T (p.Met165Ile) c.975G>T (p.Met325Ile) c.1020G>T (p.Met340Ile) c.852G>T (p.Met284Ile) c.1143G>T (p.Met381Ile) c.1081-66G>T (n.1081-66G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.154569708G>A | CA358515304 | FGB | c.1153G>A (p.Asp385Asn) n.939+401G>A c.496G>A (p.Asp166Asn) c.976G>A (p.Asp326Asn) c.1021G>A (p.Asp341Asn) c.853G>A (p.Asp285Asn) c.1144G>A (p.Asp382Asn) c.1081-65G>A (n.1081-65G>A) | |
4 | g.154569708G>C | CA358515305 | FGB | c.1153G>C (p.Asp385His) n.939+401G>C c.496G>C (p.Asp166His) c.976G>C (p.Asp326His) c.1021G>C (p.Asp341His) c.853G>C (p.Asp285His) c.1144G>C (p.Asp382His) c.1081-65G>C (n.1081-65G>C) | |
4 | g.154569708G>T | CA358515306 | FGB | c.1153G>T (p.Asp385Tyr) n.939+401G>T c.496G>T (p.Asp166Tyr) c.976G>T (p.Asp326Tyr) c.1021G>T (p.Asp341Tyr) c.853G>T (p.Asp285Tyr) c.1144G>T (p.Asp382Tyr) c.1081-65G>T (n.1081-65G>T) | |
4 | g.154569709A>C | CA358515310 | FGB | c.1154A>C (p.Asp385Ala) n.939+402A>C c.497A>C (p.Asp166Ala) c.977A>C (p.Asp326Ala) c.1022A>C (p.Asp341Ala) c.854A>C (p.Asp285Ala) c.1145A>C (p.Asp382Ala) c.1081-64A>C (n.1081-64A>C) | |
4 | g.154569709A>G | CA358515311 | FGB | c.1154A>G (p.Asp385Gly) n.939+402A>G c.497A>G (p.Asp166Gly) c.977A>G (p.Asp326Gly) c.1022A>G (p.Asp341Gly) c.854A>G (p.Asp285Gly) c.1145A>G (p.Asp382Gly) c.1081-64A>G (n.1081-64A>G) | |
4 | g.154569709A>T | CA358515308 | FGB | c.1154A>T (p.Asp385Val) n.939+402A>T c.497A>T (p.Asp166Val) c.977A>T (p.Asp326Val) c.1022A>T (p.Asp341Val) c.854A>T (p.Asp285Val) c.1145A>T (p.Asp382Val) c.1081-64A>T (n.1081-64A>T) | |
4 | g.154569710T>A | CA358515313 | FGB | c.1155T>A (p.Asp385Glu) n.939+403T>A c.498T>A (p.Asp166Glu) c.978T>A (p.Asp326Glu) c.1023T>A (p.Asp341Glu) c.855T>A (p.Asp285Glu) c.1146T>A (p.Asp382Glu) c.1081-63T>A (n.1081-63T>A) | |
4 | g.154569710T>C | CA442013502 | FGB | c.1155T>C (p.Asp385=) n.939+403T>C c.498T>C (p.Asp166=) c.978T>C (p.Asp326=) c.1023T>C (p.Asp341=) c.855T>C (p.Asp285=) c.1146T>C (p.Asp382=) c.1081-63T>C (n.1081-63T>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.154569710T>G | CA358515315 | FGB | c.1155T>G (p.Asp385Glu) n.939+403T>G c.498T>G (p.Asp166Glu) c.978T>G (p.Asp326Glu) c.1023T>G (p.Asp341Glu) c.855T>G (p.Asp285Glu) c.1146T>G (p.Asp382Glu) c.1081-63T>G (n.1081-63T>G) | |
4 | g.154569710T= | CA1504935537 | FGB | c.1155T= (p.Asp385=) n.939+403T= c.498T= (p.Asp166=) c.978T= (p.Asp326=) c.1023T= (p.Asp341=) c.855T= (p.Asp285=) c.1146T= (p.Asp382=) c.1081-63T= (n.1081-63T=) | |
4 | g.154569711G>A | CA358515316 | FGB | c.1156G>A (p.Gly386Arg) n.939+404G>A c.499G>A (p.Gly167Arg) c.979G>A (p.Gly327Arg) c.1024G>A (p.Gly342Arg) c.856G>A (p.Gly286Arg) c.1147G>A (p.Gly383Arg) c.1081-62G>A (n.1081-62G>A) | |
4 | g.154569711G>C | CA358515319 | FGB | c.1156G>C (p.Gly386Arg) n.939+404G>C c.499G>C (p.Gly167Arg) c.979G>C (p.Gly327Arg) c.1024G>C (p.Gly342Arg) c.856G>C (p.Gly286Arg) c.1147G>C (p.Gly383Arg) c.1081-62G>C (n.1081-62G>C) | |
4 | g.154569711G>T | CA358515320 | FGB | c.1156G>T (p.Gly386Ter) n.939+404G>T c.499G>T (p.Gly167Ter) c.979G>T (p.Gly327Ter) c.1024G>T (p.Gly342Ter) c.856G>T (p.Gly286Ter) c.1147G>T (p.Gly383Ter) c.1081-62G>T (n.1081-62G>T) | |
4 | g.154569712G>A | CA358515322 | FGB | c.1157G>A (p.Gly386Glu) n.939+405G>A c.500G>A (p.Gly167Glu) c.980G>A (p.Gly327Glu) c.1025G>A (p.Gly342Glu) c.857G>A (p.Gly286Glu) c.1148G>A (p.Gly383Glu) c.1081-61G>A (n.1081-61G>A) | |
4 | g.154569712G>C | CA358515323 | FGB | c.1157G>C (p.Gly386Ala) n.939+405G>C c.500G>C (p.Gly167Ala) c.980G>C (p.Gly327Ala) c.1025G>C (p.Gly342Ala) c.857G>C (p.Gly286Ala) c.1148G>C (p.Gly383Ala) c.1081-61G>C (n.1081-61G>C) | |
4 | g.154569712G>T | CA358515325 | FGB | c.1157G>T (p.Gly386Val) n.939+405G>T c.500G>T (p.Gly167Val) c.980G>T (p.Gly327Val) c.1025G>T (p.Gly342Val) c.857G>T (p.Gly286Val) c.1148G>T (p.Gly383Val) c.1081-61G>T (n.1081-61G>T) | |
4 | g.154569713A= | CA1504935541 | FGB | c.1158A= (p.Gly386=) n.939+406A= c.501A= (p.Gly167=) c.981A= (p.Gly327=) c.1026A= (p.Gly342=) c.858A= (p.Gly286=) c.1149A= (p.Gly383=) c.1081-60A= (n.1081-60A=) | |
4 | g.154569713A>C | CA442013512 | FGB | c.1158A>C (p.Gly386=) n.939+406A>C c.501A>C (p.Gly167=) c.981A>C (p.Gly327=) c.1026A>C (p.Gly342=) c.858A>C (p.Gly286=) c.1149A>C (p.Gly383=) c.1081-60A>C (n.1081-60A>C) | |
4 | g.154569713A>G | CA442013510 | FGB | c.1158A>G (p.Gly386=) n.939+406A>G c.501A>G (p.Gly167=) c.981A>G (p.Gly327=) c.1026A>G (p.Gly342=) c.858A>G (p.Gly286=) c.1149A>G (p.Gly383=) c.1081-60A>G (n.1081-60A>G) | dbSNP |
4 | g.154569713A>T | CA442013509 | FGB | c.1158A>T (p.Gly386=) n.939+406A>T c.501A>T (p.Gly167=) c.981A>T (p.Gly327=) c.1026A>T (p.Gly342=) c.858A>T (p.Gly286=) c.1149A>T (p.Gly383=) c.1081-60A>T (n.1081-60A>T) | |
4 | g.154569714G>A | CA358515327 | FGB | c.1159G>A (p.Ala387Thr) n.939+407G>A c.502G>A (p.Ala168Thr) c.982G>A (p.Ala328Thr) c.1027G>A (p.Ala343Thr) c.859G>A (p.Ala287Thr) c.1150G>A (p.Ala384Thr) c.1081-59G>A (n.1081-59G>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.154569714G>C | CA358515329 | FGB | c.1159G>C (p.Ala387Pro) n.939+407G>C c.502G>C (p.Ala168Pro) c.982G>C (p.Ala328Pro) c.1027G>C (p.Ala343Pro) c.859G>C (p.Ala287Pro) c.1150G>C (p.Ala384Pro) c.1081-59G>C (n.1081-59G>C) | |
4 | g.154569714G= | CA1504935545 | FGB | c.1159G= (p.Ala387=) n.939+407G= c.502G= (p.Ala168=) c.982G= (p.Ala328=) c.1027G= (p.Ala343=) c.859G= (p.Ala287=) c.1150G= (p.Ala384=) c.1081-59G= (n.1081-59G=) | |
4 | g.154569714G>T | CA358515330 | FGB | c.1159G>T (p.Ala387Ser) n.939+407G>T c.502G>T (p.Ala168Ser) c.982G>T (p.Ala328Ser) c.1027G>T (p.Ala343Ser) c.859G>T (p.Ala287Ser) c.1150G>T (p.Ala384Ser) c.1081-59G>T (n.1081-59G>T) | dbSNP |
4 | g.154569715C>A | CA358515336 | FGB | c.1160C>A (p.Ala387Glu) n.939+408C>A c.503C>A (p.Ala168Glu) c.983C>A (p.Ala328Glu) c.1028C>A (p.Ala343Glu) c.860C>A (p.Ala287Glu) c.1151C>A (p.Ala384Glu) c.1081-58C>A (n.1081-58C>A) | |
4 | g.154569715C>G | CA358515334 | FGB | c.1160C>G (p.Ala387Gly) n.939+408C>G c.503C>G (p.Ala168Gly) c.983C>G (p.Ala328Gly) c.1028C>G (p.Ala343Gly) c.860C>G (p.Ala287Gly) c.1151C>G (p.Ala384Gly) c.1081-58C>G (n.1081-58C>G) | |
4 | g.154569715C>T | CA358515332 | FGB | c.1160C>T (p.Ala387Val) n.939+408C>T c.503C>T (p.Ala168Val) c.983C>T (p.Ala328Val) c.1028C>T (p.Ala343Val) c.860C>T (p.Ala287Val) c.1151C>T (p.Ala384Val) c.1081-58C>T (n.1081-58C>T) | COSMIC |
4 | g.154569716A= | CA1504935547 | FGB | c.1161A= (p.Ala387=) n.939+409A= c.504A= (p.Ala168=) c.984A= (p.Ala328=) c.1029A= (p.Ala343=) c.861A= (p.Ala287=) c.1152A= (p.Ala384=) c.1081-57A= (n.1081-57A=) | |
4 | g.154569716A>C | CA442013514 | FGB | c.1161A>C (p.Ala387=) n.939+409A>C c.504A>C (p.Ala168=) c.984A>C (p.Ala328=) c.1029A>C (p.Ala343=) c.861A>C (p.Ala287=) c.1152A>C (p.Ala384=) c.1081-57A>C (n.1081-57A>C) | dbSNP |
4 | g.154569716A>G | CA442013517 | FGB | c.1161A>G (p.Ala387=) n.939+409A>G c.504A>G (p.Ala168=) c.984A>G (p.Ala328=) c.1029A>G (p.Ala343=) c.861A>G (p.Ala287=) c.1152A>G (p.Ala384=) c.1081-57A>G (n.1081-57A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.154569716A>T | CA442013520 | FGB | c.1161A>T (p.Ala387=) n.939+409A>T c.504A>T (p.Ala168=) c.984A>T (p.Ala328=) c.1029A>T (p.Ala343=) c.861A>T (p.Ala287=) c.1152A>T (p.Ala384=) c.1081-57A>T (n.1081-57A>T) | gnomAD v4 |
4 | g.154569717T>A | CA3114732 | FGB | c.1162T>A (p.Ser388Thr) n.939+410T>A c.505T>A (p.Ser169Thr) c.985T>A (p.Ser329Thr) c.1030T>A (p.Ser344Thr) c.862T>A (p.Ser288Thr) c.1153T>A (p.Ser385Thr) c.1081-56T>A (n.1081-56T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569717T>C | CA358515338 | FGB | c.1162T>C (p.Ser388Pro) n.939+410T>C c.505T>C (p.Ser169Pro) c.985T>C (p.Ser329Pro) c.1030T>C (p.Ser344Pro) c.862T>C (p.Ser288Pro) c.1153T>C (p.Ser385Pro) c.1081-56T>C (n.1081-56T>C) | dbSNP |
4 | g.154569717T>G | CA358515340 | FGB | c.1162T>G (p.Ser388Ala) n.939+410T>G c.505T>G (p.Ser169Ala) c.985T>G (p.Ser329Ala) c.1030T>G (p.Ser344Ala) c.862T>G (p.Ser288Ala) c.1153T>G (p.Ser385Ala) c.1081-56T>G (n.1081-56T>G) | |
4 | g.154569717T= | CA1504935550 | FGB | c.1162T= (p.Ser388=) n.939+410T= c.505T= (p.Ser169=) c.985T= (p.Ser329=) c.1030T= (p.Ser344=) c.862T= (p.Ser288=) c.1153T= (p.Ser385=) c.1081-56T= (n.1081-56T=) | |
4 | g.154569718C>A | CA358515341 | FGB | c.1163C>A (p.Ser388Tyr) n.939+411C>A c.506C>A (p.Ser169Tyr) c.986C>A (p.Ser329Tyr) c.1031C>A (p.Ser344Tyr) c.863C>A (p.Ser288Tyr) c.1154C>A (p.Ser385Tyr) c.1081-55C>A (n.1081-55C>A) | |
4 | g.154569718C>G | CA358515342 | FGB | c.1163C>G (p.Ser388Cys) n.939+411C>G c.506C>G (p.Ser169Cys) c.986C>G (p.Ser329Cys) c.1031C>G (p.Ser344Cys) c.863C>G (p.Ser288Cys) c.1154C>G (p.Ser385Cys) c.1081-55C>G (n.1081-55C>G) | |
4 | g.154569718C>T | CA358515344 | FGB | c.1163C>T (p.Ser388Phe) n.939+411C>T c.506C>T (p.Ser169Phe) c.986C>T (p.Ser329Phe) c.1031C>T (p.Ser344Phe) c.863C>T (p.Ser288Phe) c.1154C>T (p.Ser385Phe) c.1081-55C>T (n.1081-55C>T) | |
4 | g.154569719T>A | CA442013530 | FGB | c.1164T>A (p.Ser388=) n.939+412T>A c.507T>A (p.Ser169=) c.987T>A (p.Ser329=) c.1032T>A (p.Ser344=) c.864T>A (p.Ser288=) c.1155T>A (p.Ser385=) c.1081-54T>A (n.1081-54T>A) | gnomAD v4 |
4 | g.154569719T>C | CA442013532 | FGB | c.1164T>C (p.Ser388=) n.939+412T>C c.507T>C (p.Ser169=) c.987T>C (p.Ser329=) c.1032T>C (p.Ser344=) c.864T>C (p.Ser288=) c.1155T>C (p.Ser385=) c.1081-54T>C (n.1081-54T>C) | |
4 | g.154569719T>G | CA442013533 | FGB | c.1164T>G (p.Ser388=) n.939+412T>G c.507T>G (p.Ser169=) c.987T>G (p.Ser329=) c.1032T>G (p.Ser344=) c.864T>G (p.Ser288=) c.1155T>G (p.Ser385=) c.1081-54T>G (n.1081-54T>G) | |
4 | g.154569720C>A | CA358515346 | FGB | c.1165C>A (p.Gln389Lys) n.939+413C>A c.508C>A (p.Gln170Lys) c.988C>A (p.Gln330Lys) c.1033C>A (p.Gln345Lys) c.865C>A (p.Gln289Lys) c.1156C>A (p.Gln386Lys) c.1081-53C>A (n.1081-53C>A) | |
4 | g.154569720C>G | CA358515347 | FGB | c.1165C>G (p.Gln389Glu) n.939+413C>G c.508C>G (p.Gln170Glu) c.988C>G (p.Gln330Glu) c.1033C>G (p.Gln345Glu) c.865C>G (p.Gln289Glu) c.1156C>G (p.Gln386Glu) c.1081-53C>G (n.1081-53C>G) | |
4 | g.154569720C>T | CA358515348 | FGB | c.1165C>T (p.Gln389Ter) n.939+413C>T c.508C>T (p.Gln170Ter) c.988C>T (p.Gln330Ter) c.1033C>T (p.Gln345Ter) c.865C>T (p.Gln289Ter) c.1156C>T (p.Gln386Ter) c.1081-53C>T (n.1081-53C>T) | |
4 | g.154569721A>C | CA358515351 | FGB | c.1166A>C (p.Gln389Pro) n.939+414A>C c.509A>C (p.Gln170Pro) c.989A>C (p.Gln330Pro) c.1034A>C (p.Gln345Pro) c.866A>C (p.Gln289Pro) c.1157A>C (p.Gln386Pro) c.1081-52A>C (n.1081-52A>C) | |
4 | g.154569721A>G | CA358515353 | FGB | c.1166A>G (p.Gln389Arg) n.939+414A>G c.509A>G (p.Gln170Arg) c.989A>G (p.Gln330Arg) c.1034A>G (p.Gln345Arg) c.866A>G (p.Gln289Arg) c.1157A>G (p.Gln386Arg) c.1081-52A>G (n.1081-52A>G) | |
4 | g.154569721A>T | CA358515354 | FGB | c.1166A>T (p.Gln389Leu) n.939+414A>T c.509A>T (p.Gln170Leu) c.989A>T (p.Gln330Leu) c.1034A>T (p.Gln345Leu) c.866A>T (p.Gln289Leu) c.1157A>T (p.Gln386Leu) c.1081-52A>T (n.1081-52A>T) | |
4 | g.154569722G>A | CA442013537 | FGB | c.1167G>A (p.Gln389=) n.939+415G>A c.510G>A (p.Gln170=) c.990G>A (p.Gln330=) c.1035G>A (p.Gln345=) c.867G>A (p.Gln289=) c.1158G>A (p.Gln386=) c.1081-51G>A (n.1081-51G>A) | dbSNP gnomAD v4 |
4 | g.154569722G>C | CA358515358 | FGB | c.1167G>C (p.Gln389His) n.939+415G>C c.510G>C (p.Gln170His) c.990G>C (p.Gln330His) c.1035G>C (p.Gln345His) c.867G>C (p.Gln289His) c.1158G>C (p.Gln386His) c.1081-51G>C (n.1081-51G>C) | |
4 | g.154569722G= | CA1504935553 | FGB | c.1167G= (p.Gln389=) n.939+415G= c.510G= (p.Gln170=) c.990G= (p.Gln330=) c.1035G= (p.Gln345=) c.867G= (p.Gln289=) c.1158G= (p.Gln386=) c.1081-51G= (n.1081-51G=) | |
4 | g.154569722G>T | CA358515356 | FGB | c.1167G>T (p.Gln389His) n.939+415G>T c.510G>T (p.Gln170His) c.990G>T (p.Gln330His) c.1035G>T (p.Gln345His) c.867G>T (p.Gln289His) c.1158G>T (p.Gln386His) c.1081-51G>T (n.1081-51G>T) | |
4 | g.154569723C>A | CA358515359 | FGB | c.1168C>A (p.Leu390Met) n.939+416C>A c.511C>A (p.Leu171Met) c.991C>A (p.Leu331Met) c.1036C>A (p.Leu346Met) c.868C>A (p.Leu290Met) c.1159C>A (p.Leu387Met) c.1081-50C>A (n.1081-50C>A) | |
4 | g.154569723C>G | CA358515361 | FGB | c.1168C>G (p.Leu390Val) n.939+416C>G c.511C>G (p.Leu171Val) c.991C>G (p.Leu331Val) c.1036C>G (p.Leu346Val) c.868C>G (p.Leu290Val) c.1159C>G (p.Leu387Val) c.1081-50C>G (n.1081-50C>G) | |
4 | g.154569723C>T | CA442013538 | FGB | c.1168C>T (p.Leu390=) n.939+416C>T c.511C>T (p.Leu171=) c.991C>T (p.Leu331=) c.1036C>T (p.Leu346=) c.868C>T (p.Leu290=) c.1159C>T (p.Leu387=) c.1081-50C>T (n.1081-50C>T) | |
4 | g.154569724T>A | CA358515363 | FGB | c.1169T>A (p.Leu390Gln) n.939+417T>A c.512T>A (p.Leu171Gln) c.992T>A (p.Leu331Gln) c.1037T>A (p.Leu346Gln) c.869T>A (p.Leu290Gln) c.1160T>A (p.Leu387Gln) c.1081-49T>A (n.1081-49T>A) | |
4 | g.154569724T>C | CA358515365 | FGB | c.1169T>C (p.Leu390Pro) n.939+417T>C c.512T>C (p.Leu171Pro) c.992T>C (p.Leu331Pro) c.1037T>C (p.Leu346Pro) c.869T>C (p.Leu290Pro) c.1160T>C (p.Leu387Pro) c.1081-49T>C (n.1081-49T>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.154569724T>G | CA358515366 | FGB | c.1169T>G (p.Leu390Arg) n.939+417T>G c.512T>G (p.Leu171Arg) c.992T>G (p.Leu331Arg) c.1037T>G (p.Leu346Arg) c.869T>G (p.Leu290Arg) c.1160T>G (p.Leu387Arg) c.1081-49T>G (n.1081-49T>G) | |
4 | g.154569724T= | CA1504935557 | FGB | c.1169T= (p.Leu390=) n.939+417T= c.512T= (p.Leu171=) c.992T= (p.Leu331=) c.1037T= (p.Leu346=) c.869T= (p.Leu290=) c.1160T= (p.Leu387=) c.1081-49T= (n.1081-49T=) | |
4 | g.154569725G>A | CA442013543 | FGB | c.1170G>A (p.Leu390=) n.939+418G>A c.513G>A (p.Leu171=) c.993G>A (p.Leu331=) c.1038G>A (p.Leu346=) c.870G>A (p.Leu290=) c.1161G>A (p.Leu387=) c.1081-48G>A (n.1081-48G>A) | |
4 | g.154569725G>C | CA442013544 | FGB | c.1170G>C (p.Leu390=) n.939+418G>C c.513G>C (p.Leu171=) c.993G>C (p.Leu331=) c.1038G>C (p.Leu346=) c.870G>C (p.Leu290=) c.1161G>C (p.Leu387=) c.1081-48G>C (n.1081-48G>C) | |
4 | g.154569725G>T | CA442013545 | FGB | c.1170G>T (p.Leu390=) n.939+418G>T c.513G>T (p.Leu171=) c.993G>T (p.Leu331=) c.1038G>T (p.Leu346=) c.870G>T (p.Leu290=) c.1161G>T (p.Leu387=) c.1081-48G>T (n.1081-48G>T) | |
4 | g.154569726A= | CA1504935559 | FGB | c.1171A= (p.Met391=) n.939+419A= c.514A= (p.Met172=) c.994A= (p.Met332=) c.1039A= (p.Met347=) c.871A= (p.Met291=) c.1162A= (p.Met388=) c.1081-47A= (n.1081-47A=) | |
4 | g.154569726A>C | CA358515368 | FGB | c.1171A>C (p.Met391Leu) n.939+419A>C c.514A>C (p.Met172Leu) c.994A>C (p.Met332Leu) c.1039A>C (p.Met347Leu) c.871A>C (p.Met291Leu) c.1162A>C (p.Met388Leu) c.1081-47A>C (n.1081-47A>C) | |
4 | g.154569726A>G | CA358515370 | FGB | c.1171A>G (p.Met391Val) n.939+419A>G c.514A>G (p.Met172Val) c.994A>G (p.Met332Val) c.1039A>G (p.Met347Val) c.871A>G (p.Met291Val) c.1162A>G (p.Met388Val) c.1081-47A>G (n.1081-47A>G) | dbSNP gnomAD v4 |
4 | g.154569726A>T | CA358515372 | FGB | c.1171A>T (p.Met391Leu) n.939+419A>T c.514A>T (p.Met172Leu) c.994A>T (p.Met332Leu) c.1039A>T (p.Met347Leu) c.871A>T (p.Met291Leu) c.1162A>T (p.Met388Leu) c.1081-47A>T (n.1081-47A>T) | |
4 | g.154569727T>A | CA358515373 | FGB | c.1172T>A (p.Met391Lys) n.939+420T>A c.515T>A (p.Met172Lys) c.995T>A (p.Met332Lys) c.1040T>A (p.Met347Lys) c.872T>A (p.Met291Lys) c.1163T>A (p.Met388Lys) c.1081-46T>A (n.1081-46T>A) | |
4 | g.154569727T>C | CA3114733 | FGB | c.1172T>C (p.Met391Thr) n.939+420T>C c.515T>C (p.Met172Thr) c.995T>C (p.Met332Thr) c.1040T>C (p.Met347Thr) c.872T>C (p.Met291Thr) c.1163T>C (p.Met388Thr) c.1081-46T>C (n.1081-46T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569727T>G | CA358515374 | FGB | c.1172T>G (p.Met391Arg) n.939+420T>G c.515T>G (p.Met172Arg) c.995T>G (p.Met332Arg) c.1040T>G (p.Met347Arg) c.872T>G (p.Met291Arg) c.1163T>G (p.Met388Arg) c.1081-46T>G (n.1081-46T>G) | |
4 | g.154569727T= | CA1504935562 | FGB | c.1172T= (p.Met391=) n.939+420T= c.515T= (p.Met172=) c.995T= (p.Met332=) c.1040T= (p.Met347=) c.872T= (p.Met291=) c.1163T= (p.Met388=) c.1081-46T= (n.1081-46T=) | |
4 | g.154569728G>A | CA358515375 | FGB | c.1173G>A (p.Met391Ile) n.939+421G>A c.516G>A (p.Met172Ile) c.996G>A (p.Met332Ile) c.1041G>A (p.Met347Ile) c.873G>A (p.Met291Ile) c.1164G>A (p.Met388Ile) c.1081-45G>A (n.1081-45G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.154569728G>C | CA358515378 | FGB | c.1173G>C (p.Met391Ile) n.939+421G>C c.516G>C (p.Met172Ile) c.996G>C (p.Met332Ile) c.1041G>C (p.Met347Ile) c.873G>C (p.Met291Ile) c.1164G>C (p.Met388Ile) c.1081-45G>C (n.1081-45G>C) | |
4 | g.154569728G= | CA1504935566 | FGB | c.1173G= (p.Met391=) n.939+421G= c.516G= (p.Met172=) c.996G= (p.Met332=) c.1041G= (p.Met347=) c.873G= (p.Met291=) c.1164G= (p.Met388=) c.1081-45G= (n.1081-45G=) | |
4 | g.154569728G>T | CA358515380 | FGB | c.1173G>T (p.Met391Ile) n.939+421G>T c.516G>T (p.Met172Ile) c.996G>T (p.Met332Ile) c.1041G>T (p.Met347Ile) c.873G>T (p.Met291Ile) c.1164G>T (p.Met388Ile) c.1081-45G>T (n.1081-45G>T) | |
4 | g.154569729G>A | CA108751724 | FGB | c.1174G>A (p.Gly392Arg) n.939+422G>A c.517G>A (p.Gly173Arg) c.997G>A (p.Gly333Arg) c.1042G>A (p.Gly348Arg) c.874G>A (p.Gly292Arg) c.1165G>A (p.Gly389Arg) c.1081-44G>A (n.1081-44G>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.154569729G>C | CA358515383 | FGB | c.1174G>C (p.Gly392Arg) n.939+422G>C c.517G>C (p.Gly173Arg) c.997G>C (p.Gly333Arg) c.1042G>C (p.Gly348Arg) c.874G>C (p.Gly292Arg) c.1165G>C (p.Gly389Arg) c.1081-44G>C (n.1081-44G>C) | |
4 | g.154569729G= | CA1504935568 | FGB | c.1174G= (p.Gly392=) n.939+422G= c.517G= (p.Gly173=) c.997G= (p.Gly333=) c.1042G= (p.Gly348=) c.874G= (p.Gly292=) c.1165G= (p.Gly389=) c.1081-44G= (n.1081-44G=) | |
4 | g.154569729G>T | CA358515381 | FGB | c.1174G>T (p.Gly392Ter) n.939+422G>T c.517G>T (p.Gly173Ter) c.997G>T (p.Gly333Ter) c.1042G>T (p.Gly348Ter) c.874G>T (p.Gly292Ter) c.1165G>T (p.Gly389Ter) c.1081-44G>T (n.1081-44G>T) | |
4 | g.154569730G>A | CA358515386 | FGB | c.1175G>A (p.Gly392Glu) n.939+423G>A c.518G>A (p.Gly173Glu) c.998G>A (p.Gly333Glu) c.1043G>A (p.Gly348Glu) c.875G>A (p.Gly292Glu) c.1166G>A (p.Gly389Glu) c.1081-43G>A (n.1081-43G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569730G>C | CA3114734 | FGB | c.1175G>C (p.Gly392Ala) n.939+423G>C c.518G>C (p.Gly173Ala) c.998G>C (p.Gly333Ala) c.1043G>C (p.Gly348Ala) c.875G>C (p.Gly292Ala) c.1166G>C (p.Gly389Ala) c.1081-43G>C (n.1081-43G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.154569730G= | CA1504935570 | FGB | c.1175G= (p.Gly392=) n.939+423G= c.518G= (p.Gly173=) c.998G= (p.Gly333=) c.1043G= (p.Gly348=) c.875G= (p.Gly292=) c.1166G= (p.Gly389=) c.1081-43G= (n.1081-43G=) | |
4 | g.154569730G>T | CA358515387 | FGB | c.1175G>T (p.Gly392Val) n.939+423G>T c.518G>T (p.Gly173Val) c.998G>T (p.Gly333Val) c.1043G>T (p.Gly348Val) c.875G>T (p.Gly292Val) c.1166G>T (p.Gly389Val) c.1081-43G>T (n.1081-43G>T) | |
4 | g.154569731A= | CA1504935574 | FGB | c.1176A= (p.Gly392=) n.939+424A= c.519A= (p.Gly173=) c.999A= (p.Gly333=) c.1044A= (p.Gly348=) c.876A= (p.Gly292=) c.1167A= (p.Gly389=) c.1081-42A= (n.1081-42A=) | |
4 | g.154569731A>C | CA442013550 | FGB | c.1176A>C (p.Gly392=) n.939+424A>C c.519A>C (p.Gly173=) c.999A>C (p.Gly333=) c.1044A>C (p.Gly348=) c.876A>C (p.Gly292=) c.1167A>C (p.Gly389=) c.1081-42A>C (n.1081-42A>C) | |
4 | g.154569731A>G | CA442013551 | FGB | c.1176A>G (p.Gly392=) n.939+424A>G c.519A>G (p.Gly173=) c.999A>G (p.Gly333=) c.1044A>G (p.Gly348=) c.876A>G (p.Gly292=) c.1167A>G (p.Gly389=) c.1081-42A>G (n.1081-42A>G) | dbSNP gnomAD v4 |
4 | g.154569731A>T | CA442013552 | FGB | c.1176A>T (p.Gly392=) n.939+424A>T c.519A>T (p.Gly173=) c.999A>T (p.Gly333=) c.1044A>T (p.Gly348=) c.876A>T (p.Gly292=) c.1167A>T (p.Gly389=) c.1081-42A>T (n.1081-42A>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.154569732G>A | CA358515390 | FGB | c.1177G>A (p.Glu393Lys) n.939+425G>A c.520G>A (p.Glu174Lys) c.1000G>A (p.Glu334Lys) c.1045G>A (p.Glu349Lys) c.877G>A (p.Glu293Lys) c.1168G>A (p.Glu390Lys) c.1081-41G>A (n.1081-41G>A) | |
4 | g.154569732G>C | CA358515392 | FGB | c.1177G>C (p.Glu393Gln) n.939+425G>C c.520G>C (p.Glu174Gln) c.1000G>C (p.Glu334Gln) c.1045G>C (p.Glu349Gln) c.877G>C (p.Glu293Gln) c.1168G>C (p.Glu390Gln) c.1081-41G>C (n.1081-41G>C) | |
4 | g.154569732G>T | CA358515393 | FGB | c.1177G>T (p.Glu393Ter) n.939+425G>T c.520G>T (p.Glu174Ter) c.1000G>T (p.Glu334Ter) c.1045G>T (p.Glu349Ter) c.877G>T (p.Glu293Ter) c.1168G>T (p.Glu390Ter) c.1081-41G>T (n.1081-41G>T) | |
4 | g.154569733A>C | CA358515396 | FGB | c.1178A>C (p.Glu393Ala) n.939+426A>C c.521A>C (p.Glu174Ala) c.1001A>C (p.Glu334Ala) c.1046A>C (p.Glu349Ala) c.878A>C (p.Glu293Ala) c.1169A>C (p.Glu390Ala) c.1081-40A>C (n.1081-40A>C) | |
4 | g.154569733A>G | CA358515398 | FGB | c.1178A>G (p.Glu393Gly) n.939+426A>G c.521A>G (p.Glu174Gly) c.1001A>G (p.Glu334Gly) c.1046A>G (p.Glu349Gly) c.878A>G (p.Glu293Gly) c.1169A>G (p.Glu390Gly) c.1081-40A>G (n.1081-40A>G) | |
4 | g.154569733A>T | CA358515400 | FGB | c.1178A>T (p.Glu393Val) n.939+426A>T c.521A>T (p.Glu174Val) c.1001A>T (p.Glu334Val) c.1046A>T (p.Glu349Val) c.878A>T (p.Glu293Val) c.1169A>T (p.Glu390Val) c.1081-40A>T (n.1081-40A>T) | |
4 | g.154569736dup | CA2838032740 | FGB | c.1181dup (p.Asn394LysfsTer16) n.939+429dup c.524dup (p.Asn175LysfsTer16) c.1004dup (p.Asn335LysfsTer16) c.1049dup (p.Asn350LysfsTer16) c.881dup (p.Asn294LysfsTer16) c.1172dup (p.Asn391LysfsTer16) c.1081-37dup (n.1081-37dup) c.1181dup (p.Asn394LysfsTer25) | |
4 | g.154569734A= | CA1504935577 | FGB | c.1179A= (p.Glu393=) n.939+427A= c.522A= (p.Glu174=) c.1002A= (p.Glu334=) c.1047A= (p.Glu349=) c.879A= (p.Glu293=) c.1170A= (p.Glu390=) c.1081-39A= (n.1081-39A=) | |
4 | g.154569734A>C | CA358515402 | FGB | c.1179A>C (p.Glu393Asp) n.939+427A>C c.522A>C (p.Glu174Asp) c.1002A>C (p.Glu334Asp) c.1047A>C (p.Glu349Asp) c.879A>C (p.Glu293Asp) c.1170A>C (p.Glu390Asp) c.1081-39A>C (n.1081-39A>C) | |
4 | g.154569734A>G | CA3114735 | FGB | c.1179A>G (p.Glu393=) n.939+427A>G c.522A>G (p.Glu174=) c.1002A>G (p.Glu334=) c.1047A>G (p.Glu349=) c.879A>G (p.Glu293=) c.1170A>G (p.Glu390=) c.1081-39A>G (n.1081-39A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.154569734A>T | CA358515403 | FGB | c.1179A>T (p.Glu393Asp) n.939+427A>T c.522A>T (p.Glu174Asp) c.1002A>T (p.Glu334Asp) c.1047A>T (p.Glu349Asp) c.879A>T (p.Glu293Asp) c.1170A>T (p.Glu390Asp) c.1081-39A>T (n.1081-39A>T) | |
4 | g.154569735A>C | CA358515409 | FGB | c.1180A>C (p.Asn394His) n.939+428A>C c.523A>C (p.Asn175His) c.1003A>C (p.Asn335His) c.1048A>C (p.Asn350His) c.880A>C (p.Asn294His) c.1171A>C (p.Asn391His) c.1081-38A>C (n.1081-38A>C) | |
4 | g.154569735A>G | CA358515407 | FGB | c.1180A>G (p.Asn394Asp) n.939+428A>G c.523A>G (p.Asn175Asp) c.1003A>G (p.Asn335Asp) c.1048A>G (p.Asn350Asp) c.880A>G (p.Asn294Asp) c.1171A>G (p.Asn391Asp) c.1081-38A>G (n.1081-38A>G) | |
4 | g.154569735A>T | CA358515405 | FGB | c.1180A>T (p.Asn394Tyr) n.939+428A>T c.523A>T (p.Asn175Tyr) c.1003A>T (p.Asn335Tyr) c.1048A>T (p.Asn350Tyr) c.880A>T (p.Asn294Tyr) c.1171A>T (p.Asn391Tyr) c.1081-38A>T (n.1081-38A>T) | |
4 | g.154569736A>C | CA358515410 | FGB | c.1181A>C (p.Asn394Thr) n.939+429A>C c.524A>C (p.Asn175Thr) c.1004A>C (p.Asn335Thr) c.1049A>C (p.Asn350Thr) c.881A>C (p.Asn294Thr) c.1172A>C (p.Asn391Thr) c.1081-37A>C (n.1081-37A>C) | |
4 | g.154569736A>G | CA358515411 | FGB | c.1181A>G (p.Asn394Ser) n.939+429A>G c.524A>G (p.Asn175Ser) c.1004A>G (p.Asn335Ser) c.1049A>G (p.Asn350Ser) c.881A>G (p.Asn294Ser) c.1172A>G (p.Asn391Ser) c.1081-37A>G (n.1081-37A>G) | |
4 | g.154569736A>T | CA358515412 | FGB | c.1181A>T (p.Asn394Ile) n.939+429A>T c.524A>T (p.Asn175Ile) c.1004A>T (p.Asn335Ile) c.1049A>T (p.Asn350Ile) c.881A>T (p.Asn294Ile) c.1172A>T (p.Asn391Ile) c.1081-37A>T (n.1081-37A>T) | |
4 | g.154569737C>A | CA358515413 | FGB | c.1182C>A (p.Asn394Lys) n.939+430C>A c.525C>A (p.Asn175Lys) c.1005C>A (p.Asn335Lys) c.1050C>A (p.Asn350Lys) c.882C>A (p.Asn294Lys) c.1173C>A (p.Asn391Lys) c.1081-36C>A (n.1081-36C>A) | |
4 | g.154569737C>G | CA358515415 | FGB | c.1182C>G (p.Asn394Lys) n.939+430C>G c.525C>G (p.Asn175Lys) c.1005C>G (p.Asn335Lys) c.1050C>G (p.Asn350Lys) c.882C>G (p.Asn294Lys) c.1173C>G (p.Asn391Lys) c.1081-36C>G (n.1081-36C>G) | |
4 | g.154569737C>T | CA442013562 | FGB | c.1182C>T (p.Asn394=) n.939+430C>T c.525C>T (p.Asn175=) c.1005C>T (p.Asn335=) c.1050C>T (p.Asn350=) c.882C>T (p.Asn294=) c.1173C>T (p.Asn391=) c.1081-36C>T (n.1081-36C>T) | |
4 | g.154569738A= | CA1504935579 | FGB | c.1183A= (p.Arg395=) n.939+431A= c.526A= (p.Arg176=) c.1006A= (p.Arg336=) c.1051A= (p.Arg351=) c.883A= (p.Arg295=) c.1174A= (p.Arg392=) c.1081-35A= (n.1081-35A=) | |
4 | g.154569738A>C | CA442013563 | FGB | c.1183A>C (p.Arg395=) n.939+431A>C c.526A>C (p.Arg176=) c.1006A>C (p.Arg336=) c.1051A>C (p.Arg351=) c.883A>C (p.Arg295=) c.1174A>C (p.Arg392=) c.1081-35A>C (n.1081-35A>C) | |
4 | g.154569738A>G | CA3114736 | FGB | c.1183A>G (p.Arg395Gly) n.939+431A>G c.526A>G (p.Arg176Gly) c.1006A>G (p.Arg336Gly) c.1051A>G (p.Arg351Gly) c.883A>G (p.Arg295Gly) c.1174A>G (p.Arg392Gly) c.1081-35A>G (n.1081-35A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569738A>T | CA358515417 | FGB | c.1183A>T (p.Arg395Trp) n.939+431A>T c.526A>T (p.Arg176Trp) c.1006A>T (p.Arg336Trp) c.1051A>T (p.Arg351Trp) c.883A>T (p.Arg295Trp) c.1174A>T (p.Arg392Trp) c.1081-35A>T (n.1081-35A>T) | |
4 | g.154569739G>A | CA358515419 | FGB | c.1184G>A (p.Arg395Lys) n.939+432G>A c.527G>A (p.Arg176Lys) c.1007G>A (p.Arg336Lys) c.1052G>A (p.Arg351Lys) c.884G>A (p.Arg295Lys) c.1175G>A (p.Arg392Lys) c.1081-34G>A (n.1081-34G>A) | gnomAD v4 |
4 | g.154569739G>C | CA358515420 | FGB | c.1184G>C (p.Arg395Thr) n.939+432G>C c.527G>C (p.Arg176Thr) c.1007G>C (p.Arg336Thr) c.1052G>C (p.Arg351Thr) c.884G>C (p.Arg295Thr) c.1175G>C (p.Arg392Thr) c.1081-34G>C (n.1081-34G>C) | |
4 | g.154569739G>T | CA358515421 | FGB | c.1184G>T (p.Arg395Met) n.939+432G>T c.527G>T (p.Arg176Met) c.1007G>T (p.Arg336Met) c.1052G>T (p.Arg351Met) c.884G>T (p.Arg295Met) c.1175G>T (p.Arg392Met) c.1081-34G>T (n.1081-34G>T) | |
4 | g.154569739_154569745delinsGGACCAT | CA1504935582 | FGB | c.1184_1190delinsGGACCAT (p.Arg395=) n.939+432_939+438delinsGGACCAT c.527_533delinsGGACCAT (p.Arg176=) c.1007_1013delinsGGACCAT (p.Arg336=) c.1052_1058delinsGGACCAT (p.Arg351=) c.884_890delinsGGACCAT (p.Arg295=) c.1175_1181delinsGGACCAT (p.Arg392=) c.1081-34_1081-28delinsGGACCAT (n.1081-34_1081-28delinsGGACCAT) | |
4 | g.154569740G>A | CA442013568 | FGB | c.1185G>A (p.Arg395=) n.939+433G>A c.528G>A (p.Arg176=) c.1008G>A (p.Arg336=) c.1053G>A (p.Arg351=) c.885G>A (p.Arg295=) c.1176G>A (p.Arg392=) c.1081-33G>A (n.1081-33G>A) | dbSNP gnomAD v4 |
4 | g.154569740G>C | CA358515423 | FGB | c.1185G>C (p.Arg395Ser) n.939+433G>C c.528G>C (p.Arg176Ser) c.1008G>C (p.Arg336Ser) c.1053G>C (p.Arg351Ser) c.885G>C (p.Arg295Ser) c.1176G>C (p.Arg392Ser) c.1081-33G>C (n.1081-33G>C) | |
4 | g.154569740G= | CA1504935587 | FGB | c.1185G= (p.Arg395=) n.939+433G= c.528G= (p.Arg176=) c.1008G= (p.Arg336=) c.1053G= (p.Arg351=) c.885G= (p.Arg295=) c.1176G= (p.Arg392=) c.1081-33G= (n.1081-33G=) | |
4 | g.154569740G>T | CA358515425 | FGB | c.1185G>T (p.Arg395Ser) n.939+433G>T c.528G>T (p.Arg176Ser) c.1008G>T (p.Arg336Ser) c.1053G>T (p.Arg351Ser) c.885G>T (p.Arg295Ser) c.1176G>T (p.Arg392Ser) c.1081-33G>T (n.1081-33G>T) | |
4 | g.154569746_154569751del | CA3114737 | FGB | c.1191_1196del (p.Met397_Thr398del) n.939+439_939+444del c.534_539del (p.Met178_Thr179del) c.1014_1019del (p.Met338_Thr339del) c.1059_1064del (p.Met353_Thr354del) c.891_896del (p.Met297_Thr298del) c.1182_1187del (p.Met394_Thr395del) c.1081-27_1081-22del (n.1081-27_1081-22del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.154569741A>C | CA358515430 | FGB | c.1186A>C (p.Thr396Pro) n.939+434A>C c.529A>C (p.Thr177Pro) c.1009A>C (p.Thr337Pro) c.1054A>C (p.Thr352Pro) c.886A>C (p.Thr296Pro) c.1177A>C (p.Thr393Pro) c.1081-32A>C (n.1081-32A>C) | |
4 | g.154569741A>G | CA358515426 | FGB | c.1186A>G (p.Thr396Ala) n.939+434A>G c.529A>G (p.Thr177Ala) c.1009A>G (p.Thr337Ala) c.1054A>G (p.Thr352Ala) c.886A>G (p.Thr296Ala) c.1177A>G (p.Thr393Ala) c.1081-32A>G (n.1081-32A>G) | |
4 | g.154569741A>T | CA358515428 | FGB | c.1186A>T (p.Thr396Ser) n.939+434A>T c.529A>T (p.Thr177Ser) c.1009A>T (p.Thr337Ser) c.1054A>T (p.Thr352Ser) c.886A>T (p.Thr296Ser) c.1177A>T (p.Thr393Ser) c.1081-32A>T (n.1081-32A>T) | gnomAD v4 |
4 | g.154569742C>A | CA358515431 | FGB | c.1187C>A (p.Thr396Asn) n.939+435C>A c.530C>A (p.Thr177Asn) c.1010C>A (p.Thr337Asn) c.1055C>A (p.Thr352Asn) c.887C>A (p.Thr296Asn) c.1178C>A (p.Thr393Asn) c.1081-31C>A (n.1081-31C>A) | |
4 | g.154569742C>G | CA358515432 | FGB | c.1187C>G (p.Thr396Ser) n.939+435C>G c.530C>G (p.Thr177Ser) c.1010C>G (p.Thr337Ser) c.1055C>G (p.Thr352Ser) c.887C>G (p.Thr296Ser) c.1178C>G (p.Thr393Ser) c.1081-31C>G (n.1081-31C>G) | |
4 | g.154569742C>T | CA358515434 | FGB | c.1187C>T (p.Thr396Ile) n.939+435C>T c.530C>T (p.Thr177Ile) c.1010C>T (p.Thr337Ile) c.1055C>T (p.Thr352Ile) c.887C>T (p.Thr296Ile) c.1178C>T (p.Thr393Ile) c.1081-31C>T (n.1081-31C>T) | gnomAD v4 |
4 | g.154569743C>A | CA442013573 | FGB | c.1188C>A (p.Thr396=) n.939+436C>A c.531C>A (p.Thr177=) c.1011C>A (p.Thr337=) c.1056C>A (p.Thr352=) c.888C>A (p.Thr296=) c.1179C>A (p.Thr393=) c.1081-30C>A (n.1081-30C>A) | gnomAD v4 COSMIC |
4 | g.154569743C= | CA1504935590 | FGB | c.1188C= (p.Thr396=) n.939+436C= c.531C= (p.Thr177=) c.1011C= (p.Thr337=) c.1056C= (p.Thr352=) c.888C= (p.Thr296=) c.1179C= (p.Thr393=) c.1081-30C= (n.1081-30C=) | |
4 | g.154569743C>G | CA442013574 | FGB | c.1188C>G (p.Thr396=) n.939+436C>G c.531C>G (p.Thr177=) c.1011C>G (p.Thr337=) c.1056C>G (p.Thr352=) c.888C>G (p.Thr296=) c.1179C>G (p.Thr393=) c.1081-30C>G (n.1081-30C>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.154569743C>T | CA442013576 | FGB | c.1188C>T (p.Thr396=) n.939+436C>T c.531C>T (p.Thr177=) c.1011C>T (p.Thr337=) c.1056C>T (p.Thr352=) c.888C>T (p.Thr296=) c.1179C>T (p.Thr393=) c.1081-30C>T (n.1081-30C>T) | |
4 | g.154569744A= | CA1504935593 | FGB | c.1189A= (p.Met397=) n.939+437A= c.532A= (p.Met178=) c.1012A= (p.Met338=) c.1057A= (p.Met353=) c.889A= (p.Met297=) c.1180A= (p.Met394=) c.1081-29A= (n.1081-29A=) | |
4 | g.154569744A>C | CA358515435 | FGB | c.1189A>C (p.Met397Leu) n.939+437A>C c.532A>C (p.Met178Leu) c.1012A>C (p.Met338Leu) c.1057A>C (p.Met353Leu) c.889A>C (p.Met297Leu) c.1180A>C (p.Met394Leu) c.1081-29A>C (n.1081-29A>C) | |
4 | g.154569744A>G | CA108751728 | FGB | c.1189A>G (p.Met397Val) n.939+437A>G c.532A>G (p.Met178Val) c.1012A>G (p.Met338Val) c.1057A>G (p.Met353Val) c.889A>G (p.Met297Val) c.1180A>G (p.Met394Val) c.1081-29A>G (n.1081-29A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.154569744A>T | CA358515438 | FGB | c.1189A>T (p.Met397Leu) n.939+437A>T c.532A>T (p.Met178Leu) c.1012A>T (p.Met338Leu) c.1057A>T (p.Met353Leu) c.889A>T (p.Met297Leu) c.1180A>T (p.Met394Leu) c.1081-29A>T (n.1081-29A>T) | |
4 | g.154569745T>A | CA358515440 | FGB | c.1190T>A (p.Met397Lys) n.939+438T>A c.533T>A (p.Met178Lys) c.1013T>A (p.Met338Lys) c.1058T>A (p.Met353Lys) c.890T>A (p.Met297Lys) c.1181T>A (p.Met394Lys) c.1081-28T>A (n.1081-28T>A) | |
4 | g.154569745T>C | CA108751729 | FGB | c.1190T>C (p.Met397Thr) n.939+438T>C c.533T>C (p.Met178Thr) c.1013T>C (p.Met338Thr) c.1058T>C (p.Met353Thr) c.890T>C (p.Met297Thr) c.1181T>C (p.Met394Thr) c.1081-28T>C (n.1081-28T>C) | dbSNP gnomAD v4 |
4 | g.154569745T>G | CA358515442 | FGB | c.1190T>G (p.Met397Arg) n.939+438T>G c.533T>G (p.Met178Arg) c.1013T>G (p.Met338Arg) c.1058T>G (p.Met353Arg) c.890T>G (p.Met297Arg) c.1181T>G (p.Met394Arg) c.1081-28T>G (n.1081-28T>G) | |
4 | g.154569745T= | CA1504935595 | FGB | c.1190T= (p.Met397=) n.939+438T= c.533T= (p.Met178=) c.1013T= (p.Met338=) c.1058T= (p.Met353=) c.890T= (p.Met297=) c.1181T= (p.Met394=) c.1081-28T= (n.1081-28T=) | |
4 | g.154569746G>A | CA3114738 | FGB | c.1191G>A (p.Met397Ile) n.939+439G>A c.534G>A (p.Met178Ile) c.1014G>A (p.Met338Ile) c.1059G>A (p.Met353Ile) c.891G>A (p.Met297Ile) c.1182G>A (p.Met394Ile) c.1081-27G>A (n.1081-27G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569746G>C | CA358515444 | FGB | c.1191G>C (p.Met397Ile) n.939+439G>C c.534G>C (p.Met178Ile) c.1014G>C (p.Met338Ile) c.1059G>C (p.Met353Ile) c.891G>C (p.Met297Ile) c.1182G>C (p.Met394Ile) c.1081-27G>C (n.1081-27G>C) | gnomAD v4 |
4 | g.154569746G= | CA1504935597 | FGB | c.1191G= (p.Met397=) n.939+439G= c.534G= (p.Met178=) c.1014G= (p.Met338=) c.1059G= (p.Met353=) c.891G= (p.Met297=) c.1182G= (p.Met394=) c.1081-27G= (n.1081-27G=) | |
4 | g.154569746G>T | CA358515446 | FGB | c.1191G>T (p.Met397Ile) n.939+439G>T c.534G>T (p.Met178Ile) c.1014G>T (p.Met338Ile) c.1059G>T (p.Met353Ile) c.891G>T (p.Met297Ile) c.1182G>T (p.Met394Ile) c.1081-27G>T (n.1081-27G>T) | |
4 | g.154569747A>C | CA358515450 | FGB | c.1192A>C (p.Thr398Pro) n.939+440A>C c.535A>C (p.Thr179Pro) c.1015A>C (p.Thr339Pro) c.1060A>C (p.Thr354Pro) c.892A>C (p.Thr298Pro) c.1183A>C (p.Thr395Pro) c.1081-26A>C (n.1081-26A>C) | |
4 | g.154569747A>G | CA358515451 | FGB | c.1192A>G (p.Thr398Ala) n.939+440A>G c.535A>G (p.Thr179Ala) c.1015A>G (p.Thr339Ala) c.1060A>G (p.Thr354Ala) c.892A>G (p.Thr298Ala) c.1183A>G (p.Thr395Ala) c.1081-26A>G (n.1081-26A>G) | |
4 | g.154569747A>T | CA358515448 | FGB | c.1192A>T (p.Thr398Ser) n.939+440A>T c.535A>T (p.Thr179Ser) c.1015A>T (p.Thr339Ser) c.1060A>T (p.Thr354Ser) c.892A>T (p.Thr298Ser) c.1183A>T (p.Thr395Ser) c.1081-26A>T (n.1081-26A>T) | |
4 | g.154569748C>A | CA358515456 | FGB | c.1193C>A (p.Thr398Asn) n.939+441C>A c.536C>A (p.Thr179Asn) c.1016C>A (p.Thr339Asn) c.1061C>A (p.Thr354Asn) c.893C>A (p.Thr298Asn) c.1184C>A (p.Thr395Asn) c.1081-25C>A (n.1081-25C>A) | |
4 | g.154569748C>G | CA358515453 | FGB | c.1193C>G (p.Thr398Ser) n.939+441C>G c.536C>G (p.Thr179Ser) c.1016C>G (p.Thr339Ser) c.1061C>G (p.Thr354Ser) c.893C>G (p.Thr298Ser) c.1184C>G (p.Thr395Ser) c.1081-25C>G (n.1081-25C>G) | |
4 | g.154569748C>T | CA358515457 | FGB | c.1193C>T (p.Thr398Ile) n.939+441C>T c.536C>T (p.Thr179Ile) c.1016C>T (p.Thr339Ile) c.1061C>T (p.Thr354Ile) c.893C>T (p.Thr298Ile) c.1184C>T (p.Thr395Ile) c.1081-25C>T (n.1081-25C>T) | |
4 | g.154569749C>A | CA442013583 | FGB | c.1194C>A (p.Thr398=) n.939+442C>A c.537C>A (p.Thr179=) c.1017C>A (p.Thr339=) c.1062C>A (p.Thr354=) c.894C>A (p.Thr298=) c.1185C>A (p.Thr395=) c.1081-24C>A (n.1081-24C>A) | dbSNP gnomAD v4 |
4 | g.154569749C= | CA1504935601 | FGB | c.1194C= (p.Thr398=) n.939+442C= c.537C= (p.Thr179=) c.1017C= (p.Thr339=) c.1062C= (p.Thr354=) c.894C= (p.Thr298=) c.1185C= (p.Thr395=) c.1081-24C= (n.1081-24C=) | |
4 | g.154569749C>G | CA442013584 | FGB | c.1194C>G (p.Thr398=) n.939+442C>G c.537C>G (p.Thr179=) c.1017C>G (p.Thr339=) c.1062C>G (p.Thr354=) c.894C>G (p.Thr298=) c.1185C>G (p.Thr395=) c.1081-24C>G (n.1081-24C>G) | |
4 | g.154569749C>T | CA442013585 | FGB | c.1194C>T (p.Thr398=) n.939+442C>T c.537C>T (p.Thr179=) c.1017C>T (p.Thr339=) c.1062C>T (p.Thr354=) c.894C>T (p.Thr298=) c.1185C>T (p.Thr395=) c.1081-24C>T (n.1081-24C>T) | |
4 | g.154569750A>C | CA358515459 | FGB | c.1195A>C (p.Ile399Leu) n.939+443A>C c.538A>C (p.Ile180Leu) c.1018A>C (p.Ile340Leu) c.1063A>C (p.Ile355Leu) c.895A>C (p.Ile299Leu) c.1186A>C (p.Ile396Leu) c.1081-23A>C (n.1081-23A>C) | |
4 | g.154569750A>G | CA358515460 | FGB | c.1195A>G (p.Ile399Val) n.939+443A>G c.538A>G (p.Ile180Val) c.1018A>G (p.Ile340Val) c.1063A>G (p.Ile355Val) c.895A>G (p.Ile299Val) c.1186A>G (p.Ile396Val) c.1081-23A>G (n.1081-23A>G) | |
4 | g.154569750A>T | CA358515462 | FGB | c.1195A>T (p.Ile399Phe) n.939+443A>T c.538A>T (p.Ile180Phe) c.1018A>T (p.Ile340Phe) c.1063A>T (p.Ile355Phe) c.895A>T (p.Ile299Phe) c.1186A>T (p.Ile396Phe) c.1081-23A>T (n.1081-23A>T) | |
4 | g.154569751T>A | CA358515464 | FGB | c.1196T>A (p.Ile399Asn) n.939+444T>A c.539T>A (p.Ile180Asn) c.1019T>A (p.Ile340Asn) c.1064T>A (p.Ile355Asn) c.896T>A (p.Ile299Asn) c.1187T>A (p.Ile396Asn) c.1081-22T>A (n.1081-22T>A) | |
4 | g.154569751T>C | CA108751733 | FGB | c.1196T>C (p.Ile399Thr) n.939+444T>C c.539T>C (p.Ile180Thr) c.1019T>C (p.Ile340Thr) c.1064T>C (p.Ile355Thr) c.896T>C (p.Ile299Thr) c.1187T>C (p.Ile396Thr) c.1081-22T>C (n.1081-22T>C) | dbSNP |
4 | g.154569751T>G | CA358515465 | FGB | c.1196T>G (p.Ile399Ser) n.939+444T>G c.539T>G (p.Ile180Ser) c.1019T>G (p.Ile340Ser) c.1064T>G (p.Ile355Ser) c.896T>G (p.Ile299Ser) c.1187T>G (p.Ile396Ser) c.1081-22T>G (n.1081-22T>G) | |
4 | g.154569751T= | CA1504935603 | FGB | c.1196T= (p.Ile399=) n.939+444T= c.539T= (p.Ile180=) c.1019T= (p.Ile340=) c.1064T= (p.Ile355=) c.896T= (p.Ile299=) c.1187T= (p.Ile396=) c.1081-22T= (n.1081-22T=) | |
4 | g.154569752T>A | CA442013586 | FGB | c.1197T>A (p.Ile399=) n.939+445T>A c.540T>A (p.Ile180=) c.1020T>A (p.Ile340=) c.1065T>A (p.Ile355=) c.897T>A (p.Ile299=) c.1188T>A (p.Ile396=) c.1081-21T>A (n.1081-21T>A) | |
4 | g.154569752T>C | CA442013587 | FGB | c.1197T>C (p.Ile399=) n.939+445T>C c.540T>C (p.Ile180=) c.1020T>C (p.Ile340=) c.1065T>C (p.Ile355=) c.897T>C (p.Ile299=) c.1188T>C (p.Ile396=) c.1081-21T>C (n.1081-21T>C) | dbSNP gnomAD v4 |
4 | g.154569752T>G | CA358515467 | FGB | c.1197T>G (p.Ile399Met) n.939+445T>G c.540T>G (p.Ile180Met) c.1020T>G (p.Ile340Met) c.1065T>G (p.Ile355Met) c.897T>G (p.Ile299Met) c.1188T>G (p.Ile396Met) c.1081-21T>G (n.1081-21T>G) | |
4 | g.154569752T= | CA1504935607 | FGB | c.1197T= (p.Ile399=) n.939+445T= c.540T= (p.Ile180=) c.1020T= (p.Ile340=) c.1065T= (p.Ile355=) c.897T= (p.Ile299=) c.1188T= (p.Ile396=) c.1081-21T= (n.1081-21T=) | |
4 | g.154569753C>A | CA358515469 | FGB | c.1198C>A (p.His400Asn) n.939+446C>A c.541C>A (p.His181Asn) c.1021C>A (p.His341Asn) c.1066C>A (p.His356Asn) c.898C>A (p.His300Asn) c.1189C>A (p.His397Asn) c.1081-20C>A (n.1081-20C>A) | |
4 | g.154569753C>G | CA358515471 | FGB | c.1198C>G (p.His400Asp) n.939+446C>G c.541C>G (p.His181Asp) c.1021C>G (p.His341Asp) c.1066C>G (p.His356Asp) c.898C>G (p.His300Asp) c.1189C>G (p.His397Asp) c.1081-20C>G (n.1081-20C>G) | |
4 | g.154569753C>T | CA358515472 | FGB | c.1198C>T (p.His400Tyr) n.939+446C>T c.541C>T (p.His181Tyr) c.1021C>T (p.His341Tyr) c.1066C>T (p.His356Tyr) c.898C>T (p.His300Tyr) c.1189C>T (p.His397Tyr) c.1081-20C>T (n.1081-20C>T) | |
4 | g.154569754A= | CA1504935610 | FGB | c.1199A= (p.His400=) n.939+447A= c.542A= (p.His181=) c.1022A= (p.His341=) c.1067A= (p.His356=) c.899A= (p.His300=) c.1190A= (p.His397=) c.1081-19A= (n.1081-19A=) | |
4 | g.154569754A>C | CA3114739 | FGB | c.1199A>C (p.His400Pro) n.939+447A>C c.542A>C (p.His181Pro) c.1022A>C (p.His341Pro) c.1067A>C (p.His356Pro) c.899A>C (p.His300Pro) c.1190A>C (p.His397Pro) c.1081-19A>C (n.1081-19A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569754A>G | CA358515475 | FGB | c.1199A>G (p.His400Arg) n.939+447A>G c.542A>G (p.His181Arg) c.1022A>G (p.His341Arg) c.1067A>G (p.His356Arg) c.899A>G (p.His300Arg) c.1190A>G (p.His397Arg) c.1081-19A>G (n.1081-19A>G) | |
4 | g.154569754A>T | CA358515476 | FGB | c.1199A>T (p.His400Leu) n.939+447A>T c.542A>T (p.His181Leu) c.1022A>T (p.His341Leu) c.1067A>T (p.His356Leu) c.899A>T (p.His300Leu) c.1190A>T (p.His397Leu) c.1081-19A>T (n.1081-19A>T) | |
4 | g.154569755C>A | CA358515480 | FGB | c.1200C>A (p.His400Gln) n.939+448C>A c.543C>A (p.His181Gln) c.1023C>A (p.His341Gln) c.1068C>A (p.His356Gln) c.900C>A (p.His300Gln) c.1191C>A (p.His397Gln) c.1081-18C>A (n.1081-18C>A) | |
4 | g.154569755C>G | CA358515479 | FGB | c.1200C>G (p.His400Gln) n.939+448C>G c.543C>G (p.His181Gln) c.1023C>G (p.His341Gln) c.1068C>G (p.His356Gln) c.900C>G (p.His300Gln) c.1191C>G (p.His397Gln) c.1081-18C>G (n.1081-18C>G) | |
4 | g.154569755C>T | CA442013589 | FGB | c.1200C>T (p.His400=) n.939+448C>T c.543C>T (p.His181=) c.1023C>T (p.His341=) c.1068C>T (p.His356=) c.900C>T (p.His300=) c.1191C>T (p.His397=) c.1081-18C>T (n.1081-18C>T) | |
4 | g.154569756A= | CA1504935613 | FGB | c.1201A= (p.Asn401=) n.939+449A= c.544A= (p.Asn182=) c.1024A= (p.Asn342=) c.1069A= (p.Asn357=) c.901A= (p.Asn301=) c.1192A= (p.Asn398=) c.1081-17A= (n.1081-17A=) | |
4 | g.154569756A>C | CA358515482 | FGB | c.1201A>C (p.Asn401His) n.939+449A>C c.544A>C (p.Asn182His) c.1024A>C (p.Asn342His) c.1069A>C (p.Asn357His) c.901A>C (p.Asn301His) c.1192A>C (p.Asn398His) c.1081-17A>C (n.1081-17A>C) | |
4 | g.154569756A>G | CA358515483 | FGB | c.1201A>G (p.Asn401Asp) n.939+449A>G c.544A>G (p.Asn182Asp) c.1024A>G (p.Asn342Asp) c.1069A>G (p.Asn357Asp) c.901A>G (p.Asn301Asp) c.1192A>G (p.Asn398Asp) c.1081-17A>G (n.1081-17A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.154569756A>T | CA358515485 | FGB | c.1201A>T (p.Asn401Tyr) n.939+449A>T c.544A>T (p.Asn182Tyr) c.1024A>T (p.Asn342Tyr) c.1069A>T (p.Asn357Tyr) c.901A>T (p.Asn301Tyr) c.1192A>T (p.Asn398Tyr) c.1081-17A>T (n.1081-17A>T) | |
4 | g.154569757A= | CA1504935616 | FGB | c.1202A= (p.Asn401=) n.939+450A= c.545A= (p.Asn182=) c.1025A= (p.Asn342=) c.1070A= (p.Asn357=) c.902A= (p.Asn301=) c.1193A= (p.Asn398=) c.1081-16A= (n.1081-16A=) | |
4 | g.154569757A>C | CA358515487 | FGB | c.1202A>C (p.Asn401Thr) n.939+450A>C c.545A>C (p.Asn182Thr) c.1025A>C (p.Asn342Thr) c.1070A>C (p.Asn357Thr) c.902A>C (p.Asn301Thr) c.1193A>C (p.Asn398Thr) c.1081-16A>C (n.1081-16A>C) | |
4 | g.154569757A>G | CA358515488 | FGB | c.1202A>G (p.Asn401Ser) n.939+450A>G c.545A>G (p.Asn182Ser) c.1025A>G (p.Asn342Ser) c.1070A>G (p.Asn357Ser) c.902A>G (p.Asn301Ser) c.1193A>G (p.Asn398Ser) c.1081-16A>G (n.1081-16A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569757A>T | CA358515490 | FGB | c.1202A>T (p.Asn401Ile) n.939+450A>T c.545A>T (p.Asn182Ile) c.1025A>T (p.Asn342Ile) c.1070A>T (p.Asn357Ile) c.902A>T (p.Asn301Ile) c.1193A>T (p.Asn398Ile) c.1081-16A>T (n.1081-16A>T) | |
4 | g.154569758C>A | CA108751761 | FGB | c.1203C>A (p.Asn401Lys) n.939+451C>A c.546C>A (p.Asn182Lys) c.1026C>A (p.Asn342Lys) c.1071C>A (p.Asn357Lys) c.903C>A (p.Asn301Lys) c.1194C>A (p.Asn398Lys) c.1081-15C>A (n.1081-15C>A) | dbSNP gnomAD v4 |
4 | g.154569758C= | CA1504935619 | FGB | c.1203C= (p.Asn401=) n.939+451C= c.546C= (p.Asn182=) c.1026C= (p.Asn342=) c.1071C= (p.Asn357=) c.903C= (p.Asn301=) c.1194C= (p.Asn398=) c.1081-15C= (n.1081-15C=) | |
4 | g.154569758C>G | CA358515492 | FGB | c.1203C>G (p.Asn401Lys) n.939+451C>G c.546C>G (p.Asn182Lys) c.1026C>G (p.Asn342Lys) c.1071C>G (p.Asn357Lys) c.903C>G (p.Asn301Lys) c.1194C>G (p.Asn398Lys) c.1081-15C>G (n.1081-15C>G) | |
4 | g.154569758C>T | CA3114740 | FGB | c.1203C>T (p.Asn401=) n.939+451C>T c.546C>T (p.Asn182=) c.1026C>T (p.Asn342=) c.1071C>T (p.Asn357=) c.903C>T (p.Asn301=) c.1194C>T (p.Asn398=) c.1081-15C>T (n.1081-15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569759G>A | CA3114741 | FGB | c.1204G>A (p.Gly402Ser) n.939+452G>A c.547G>A (p.Gly183Ser) c.1027G>A (p.Gly343Ser) c.1072G>A (p.Gly358Ser) c.904G>A (p.Gly302Ser) c.1195G>A (p.Gly399Ser) c.1081-14G>A (n.1081-14G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569759G>C | CA358515495 | FGB | c.1204G>C (p.Gly402Arg) n.939+452G>C c.547G>C (p.Gly183Arg) c.1027G>C (p.Gly343Arg) c.1072G>C (p.Gly358Arg) c.904G>C (p.Gly302Arg) c.1195G>C (p.Gly399Arg) c.1081-14G>C (n.1081-14G>C) | |
4 | g.154569759G= | CA1504935623 | FGB | c.1204G= (p.Gly402=) n.939+452G= c.547G= (p.Gly183=) c.1027G= (p.Gly343=) c.1072G= (p.Gly358=) c.904G= (p.Gly302=) c.1195G= (p.Gly399=) c.1081-14G= (n.1081-14G=) | |
4 | g.154569759G>T | CA358515497 | FGB | c.1204G>T (p.Gly402Cys) n.939+452G>T c.547G>T (p.Gly183Cys) c.1027G>T (p.Gly343Cys) c.1072G>T (p.Gly358Cys) c.904G>T (p.Gly302Cys) c.1195G>T (p.Gly399Cys) c.1081-14G>T (n.1081-14G>T) | |
4 | g.154569759_154569760delinsTT | CA645540053 | FGB | c.1204_1205delinsTT (p.Gly402Phe) n.939+452_939+453delinsTT c.547_548delinsTT (p.Gly183Phe) c.1027_1028delinsTT (p.Gly343Phe) c.1072_1073delinsTT (p.Gly358Phe) c.904_905delinsTT (p.Gly302Phe) c.1195_1196delinsTT (p.Gly399Phe) c.1081-14_1081-13delinsTT (n.1081-14_1081-13delinsTT) | COSMIC |
4 | g.154569760G>A | CA358515502 | FGB | c.1205G>A (p.Gly402Asp) n.939+453G>A c.548G>A (p.Gly183Asp) c.1028G>A (p.Gly343Asp) c.1073G>A (p.Gly358Asp) c.905G>A (p.Gly302Asp) c.1196G>A (p.Gly399Asp) c.1081-13G>A (n.1081-13G>A) | |
4 | g.154569760G>C | CA358515501 | FGB | c.1205G>C (p.Gly402Ala) n.939+453G>C c.548G>C (p.Gly183Ala) c.1028G>C (p.Gly343Ala) c.1073G>C (p.Gly358Ala) c.905G>C (p.Gly302Ala) c.1196G>C (p.Gly399Ala) c.1081-13G>C (n.1081-13G>C) | |
4 | g.154569760G= | CA1504935625 | FGB | c.1205G= (p.Gly402=) n.939+453G= c.548G= (p.Gly183=) c.1028G= (p.Gly343=) c.1073G= (p.Gly358=) c.905G= (p.Gly302=) c.1196G= (p.Gly399=) c.1081-13G= (n.1081-13G=) | |
4 | g.154569760G>T | CA358515500 | FGB | c.1205G>T (p.Gly402Val) n.939+453G>T c.548G>T (p.Gly183Val) c.1028G>T (p.Gly343Val) c.1073G>T (p.Gly358Val) c.905G>T (p.Gly302Val) c.1196G>T (p.Gly399Val) c.1081-13G>T (n.1081-13G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569761C>A | CA442013605 | FGB | c.1206C>A (p.Gly402=) n.939+454C>A c.549C>A (p.Gly183=) c.1029C>A (p.Gly343=) c.1074C>A (p.Gly358=) c.906C>A (p.Gly302=) c.1197C>A (p.Gly399=) c.1081-12C>A (n.1081-12C>A) | |
4 | g.154569761C>G | CA442013608 | FGB | c.1206C>G (p.Gly402=) n.939+454C>G c.549C>G (p.Gly183=) c.1029C>G (p.Gly343=) c.1074C>G (p.Gly358=) c.906C>G (p.Gly302=) c.1197C>G (p.Gly399=) c.1081-12C>G (n.1081-12C>G) | |
4 | g.154569761C>T | CA442013610 | FGB | c.1206C>T (p.Gly402=) n.939+454C>T c.549C>T (p.Gly183=) c.1029C>T (p.Gly343=) c.1074C>T (p.Gly358=) c.906C>T (p.Gly302=) c.1197C>T (p.Gly399=) c.1081-12C>T (n.1081-12C>T) | |
4 | g.154569762A= | CA1504935628 | FGB | c.1207A= (p.Met403=) n.939+455A= c.550A= (p.Met184=) c.1030A= (p.Met344=) c.1075A= (p.Met359=) c.907A= (p.Met303=) c.1198A= (p.Met400=) c.1081-11A= (n.1081-11A=) | |
4 | g.154569762A>C | CA358515503 | FGB | c.1207A>C (p.Met403Leu) n.939+455A>C c.550A>C (p.Met184Leu) c.1030A>C (p.Met344Leu) c.1075A>C (p.Met359Leu) c.907A>C (p.Met303Leu) c.1198A>C (p.Met400Leu) c.1081-11A>C (n.1081-11A>C) | dbSNP gnomAD v4 |
4 | g.154569762A>G | CA358515505 | FGB | c.1207A>G (p.Met403Val) n.939+455A>G c.550A>G (p.Met184Val) c.1030A>G (p.Met344Val) c.1075A>G (p.Met359Val) c.907A>G (p.Met303Val) c.1198A>G (p.Met400Val) c.1081-11A>G (n.1081-11A>G) | dbSNP |
4 | g.154569762A>T | CA358515507 | FGB | c.1207A>T (p.Met403Leu) n.939+455A>T c.550A>T (p.Met184Leu) c.1030A>T (p.Met344Leu) c.1075A>T (p.Met359Leu) c.907A>T (p.Met303Leu) c.1198A>T (p.Met400Leu) c.1081-11A>T (n.1081-11A>T) | dbSNP |
4 | g.154569763T>A | CA358515508 | FGB | c.1208T>A (p.Met403Lys) n.939+456T>A c.551T>A (p.Met184Lys) c.1031T>A (p.Met344Lys) c.1076T>A (p.Met359Lys) c.908T>A (p.Met303Lys) c.1199T>A (p.Met400Lys) c.1081-10T>A (n.1081-10T>A) | |
4 | g.154569763T>C | CA358515510 | FGB | c.1208T>C (p.Met403Thr) n.939+456T>C c.551T>C (p.Met184Thr) c.1031T>C (p.Met344Thr) c.1076T>C (p.Met359Thr) c.908T>C (p.Met303Thr) c.1199T>C (p.Met400Thr) c.1081-10T>C (n.1081-10T>C) | |
4 | g.154569763T>G | CA358515512 | FGB | c.1208T>G (p.Met403Arg) n.939+456T>G c.551T>G (p.Met184Arg) c.1031T>G (p.Met344Arg) c.1076T>G (p.Met359Arg) c.908T>G (p.Met303Arg) c.1199T>G (p.Met400Arg) c.1081-10T>G (n.1081-10T>G) | |
4 | g.154569764G>A | CA358515513 | FGB | c.1209G>A (p.Met403Ile) n.939+457G>A c.552G>A (p.Met184Ile) c.1032G>A (p.Met344Ile) c.1077G>A (p.Met359Ile) c.909G>A (p.Met303Ile) c.1200G>A (p.Met400Ile) c.1081-9G>A (n.1081-9G>A) | |
4 | g.154569764G>C | CA358515514 | FGB | c.1209G>C (p.Met403Ile) n.939+457G>C c.552G>C (p.Met184Ile) c.1032G>C (p.Met344Ile) c.1077G>C (p.Met359Ile) c.909G>C (p.Met303Ile) c.1200G>C (p.Met400Ile) c.1081-9G>C (n.1081-9G>C) | |
4 | g.154569764G>T | CA358515516 | FGB | c.1209G>T (p.Met403Ile) n.939+457G>T c.552G>T (p.Met184Ile) c.1032G>T (p.Met344Ile) c.1077G>T (p.Met359Ile) c.909G>T (p.Met303Ile) c.1200G>T (p.Met400Ile) c.1081-9G>T (n.1081-9G>T) | |
4 | g.154569765T>A | CA358515518 | FGB | c.1210T>A (p.Phe404Ile) n.939+458T>A c.553T>A (p.Phe185Ile) c.1033T>A (p.Phe345Ile) c.1078T>A (p.Phe360Ile) c.910T>A (p.Phe304Ile) c.1201T>A (p.Phe401Ile) c.1081-8T>A (n.1081-8T>A) | |
4 | g.154569765T>C | CA358515519 | FGB | c.1210T>C (p.Phe404Leu) n.939+458T>C c.553T>C (p.Phe185Leu) c.1033T>C (p.Phe345Leu) c.1078T>C (p.Phe360Leu) c.910T>C (p.Phe304Leu) c.1201T>C (p.Phe401Leu) c.1081-8T>C (n.1081-8T>C) | dbSNP gnomAD v4 |
4 | g.154569765T>G | CA358515520 | FGB | c.1210T>G (p.Phe404Val) n.939+458T>G c.553T>G (p.Phe185Val) c.1033T>G (p.Phe345Val) c.1078T>G (p.Phe360Val) c.910T>G (p.Phe304Val) c.1201T>G (p.Phe401Val) c.1081-8T>G (n.1081-8T>G) | |
4 | g.154569765T= | CA1504935631 | FGB | c.1210T= (p.Phe404=) n.939+458T= c.553T= (p.Phe185=) c.1033T= (p.Phe345=) c.1078T= (p.Phe360=) c.910T= (p.Phe304=) c.1201T= (p.Phe401=) c.1081-8T= (n.1081-8T=) | |
4 | g.154569766T>A | CA358515525 | FGB | c.1211T>A (p.Phe404Tyr) n.939+459T>A c.554T>A (p.Phe185Tyr) c.1034T>A (p.Phe345Tyr) c.1079T>A (p.Phe360Tyr) c.911T>A (p.Phe304Tyr) c.1202T>A (p.Phe401Tyr) c.1081-7T>A (n.1081-7T>A) | dbSNP COSMIC |
4 | g.154569766T>C | CA358515526 | FGB | c.1211T>C (p.Phe404Ser) n.939+459T>C c.554T>C (p.Phe185Ser) c.1034T>C (p.Phe345Ser) c.1079T>C (p.Phe360Ser) c.911T>C (p.Phe304Ser) c.1202T>C (p.Phe401Ser) c.1081-7T>C (n.1081-7T>C) | |
4 | g.154569766T>G | CA358515523 | FGB | c.1211T>G (p.Phe404Cys) n.939+459T>G c.554T>G (p.Phe185Cys) c.1034T>G (p.Phe345Cys) c.1079T>G (p.Phe360Cys) c.911T>G (p.Phe304Cys) c.1202T>G (p.Phe401Cys) c.1081-7T>G (n.1081-7T>G) | |
4 | g.154569766T= | CA1504935633 | FGB | c.1211T= (p.Phe404=) n.939+459T= c.554T= (p.Phe185=) c.1034T= (p.Phe345=) c.1079T= (p.Phe360=) c.911T= (p.Phe304=) c.1202T= (p.Phe401=) c.1081-7T= (n.1081-7T=) | |
4 | g.154569767C>A | CA358515527 | FGB | c.1212C>A (p.Phe404Leu) n.939+460C>A c.555C>A (p.Phe185Leu) c.1035C>A (p.Phe345Leu) c.1080C>A (p.Phe360Leu) c.912C>A (p.Phe304Leu) c.1203C>A (p.Phe401Leu) c.1081-6C>A (n.1081-6C>A) | |
4 | g.154569767C>G | CA358515529 | FGB | c.1212C>G (p.Phe404Leu) n.939+460C>G c.555C>G (p.Phe185Leu) c.1035C>G (p.Phe345Leu) c.1080C>G (p.Phe360Leu) c.912C>G (p.Phe304Leu) c.1203C>G (p.Phe401Leu) c.1081-6C>G (n.1081-6C>G) | |
4 | g.154569767C>T | CA442013627 | FGB | c.1212C>T (p.Phe404=) n.939+460C>T c.555C>T (p.Phe185=) c.1035C>T (p.Phe345=) c.1080C>T (p.Phe360=) c.912C>T (p.Phe304=) c.1203C>T (p.Phe401=) c.1081-6C>T (n.1081-6C>T) | COSMIC |
4 | g.154569768T>A | CA358515530 | FGB | c.1213T>A (p.Phe405Ile) n.939+461T>A c.556T>A (p.Phe186Ile) c.1036T>A (p.Phe346Ile) c.1081T>A (p.Phe361Ile) c.913T>A (p.Phe305Ile) c.1204T>A (p.Phe402Ile) c.1081-5T>A (n.1081-5T>A) | |
4 | g.154569768T>C | CA358515532 | FGB | c.1213T>C (p.Phe405Leu) n.939+461T>C c.556T>C (p.Phe186Leu) c.1036T>C (p.Phe346Leu) c.1081T>C (p.Phe361Leu) c.913T>C (p.Phe305Leu) c.1204T>C (p.Phe402Leu) c.1081-5T>C (n.1081-5T>C) | |
4 | g.154569768T>G | CA358515533 | FGB | c.1213T>G (p.Phe405Val) n.939+461T>G c.556T>G (p.Phe186Val) c.1036T>G (p.Phe346Val) c.1081T>G (p.Phe361Val) c.913T>G (p.Phe305Val) c.1204T>G (p.Phe402Val) c.1081-5T>G (n.1081-5T>G) | |
4 | g.154569769T>A | CA358515539 | FGB | c.1214T>A (p.Phe405Tyr) n.939+462T>A c.557T>A (p.Phe186Tyr) c.1037T>A (p.Phe346Tyr) c.1082T>A (p.Phe361Tyr) c.914T>A (p.Phe305Tyr) c.1205T>A (p.Phe402Tyr) c.1081-4T>A (n.1081-4T>A) | |
4 | g.154569769T>C | CA358515535 | FGB | c.1214T>C (p.Phe405Ser) n.939+462T>C c.557T>C (p.Phe186Ser) c.1037T>C (p.Phe346Ser) c.1082T>C (p.Phe361Ser) c.914T>C (p.Phe305Ser) c.1205T>C (p.Phe402Ser) c.1081-4T>C (n.1081-4T>C) | |
4 | g.154569769T>G | CA358515537 | FGB | c.1214T>G (p.Phe405Cys) n.939+462T>G c.557T>G (p.Phe186Cys) c.1037T>G (p.Phe346Cys) c.1082T>G (p.Phe361Cys) c.914T>G (p.Phe305Cys) c.1205T>G (p.Phe402Cys) c.1081-4T>G (n.1081-4T>G) | |
4 | g.154569770C>A | CA358515540 | FGB | c.1215C>A (p.Phe405Leu) n.939+463C>A c.558C>A (p.Phe186Leu) c.1038C>A (p.Phe346Leu) c.1083C>A (p.Phe361Leu) c.915C>A (p.Phe305Leu) c.1206C>A (p.Phe402Leu) c.1081-3C>A (n.1081-3C>A) | |
4 | g.154569770C>G | CA358515542 | FGB | c.1215C>G (p.Phe405Leu) n.939+463C>G c.558C>G (p.Phe186Leu) c.1038C>G (p.Phe346Leu) c.1083C>G (p.Phe361Leu) c.915C>G (p.Phe305Leu) c.1206C>G (p.Phe402Leu) c.1081-3C>G (n.1081-3C>G) | |
4 | g.154569770C>T | CA442013634 | FGB | c.1215C>T (p.Phe405=) n.939+463C>T c.558C>T (p.Phe186=) c.1038C>T (p.Phe346=) c.1083C>T (p.Phe361=) c.915C>T (p.Phe305=) c.1206C>T (p.Phe402=) c.1081-3C>T (n.1081-3C>T) | |
4 | g.154569771A>C | CA358515544 | FGB | c.1216A>C (p.Ser406Arg) n.939+464A>C c.559A>C (p.Ser187Arg) c.1039A>C (p.Ser347Arg) c.1084A>C (p.Ser362Arg) c.916A>C (p.Ser306Arg) c.1207A>C (p.Ser403Arg) c.1081-2A>C (n.1081-2A>C) | |
4 | g.154569771A>G | CA358515546 | FGB | c.1216A>G (p.Ser406Gly) n.939+464A>G c.559A>G (p.Ser187Gly) c.1039A>G (p.Ser347Gly) c.1084A>G (p.Ser362Gly) c.916A>G (p.Ser306Gly) c.1207A>G (p.Ser403Gly) c.1081-2A>G (n.1081-2A>G) | |
4 | g.154569771A>T | CA358515547 | FGB | c.1216A>T (p.Ser406Cys) n.939+464A>T c.559A>T (p.Ser187Cys) c.1039A>T (p.Ser347Cys) c.1084A>T (p.Ser362Cys) c.916A>T (p.Ser306Cys) c.1207A>T (p.Ser403Cys) c.1081-2A>T (n.1081-2A>T) | |
4 | g.154569772G>A | CA358515552 | FGB | c.1217G>A (p.Ser406Asn) n.939+465G>A c.560G>A (p.Ser187Asn) c.1040G>A (p.Ser347Asn) c.1085G>A (p.Ser362Asn) c.917G>A (p.Ser306Asn) c.1208G>A (p.Ser403Asn) c.1081-1G>A (n.1081-1G>A) | |
4 | g.154569772G>C | CA358515551 | FGB | c.1217G>C (p.Ser406Thr) n.939+465G>C c.560G>C (p.Ser187Thr) c.1040G>C (p.Ser347Thr) c.1085G>C (p.Ser362Thr) c.917G>C (p.Ser306Thr) c.1208G>C (p.Ser403Thr) c.1081-1G>C (n.1081-1G>C) | |
4 | g.154569772G>T | CA358515549 | FGB | c.1217G>T (p.Ser406Ile) n.939+465G>T c.560G>T (p.Ser187Ile) c.1040G>T (p.Ser347Ile) c.1085G>T (p.Ser362Ile) c.917G>T (p.Ser306Ile) c.1208G>T (p.Ser403Ile) c.1081-1G>T (n.1081-1G>T) | COSMIC |
4 | g.154569773C>A | CA358515554 | FGB | c.1218C>A (p.Ser406Arg) n.939+466C>A c.561C>A (p.Ser187Arg) c.1041C>A (p.Ser347Arg) c.1086C>A (p.Ser362Arg) c.918C>A (p.Ser306Arg) c.1209C>A (p.Ser403Arg) c.1081C>A (p.His361Asn) | |
4 | g.154569773C>G | CA358515556 | FGB | c.1218C>G (p.Ser406Arg) n.939+466C>G c.561C>G (p.Ser187Arg) c.1041C>G (p.Ser347Arg) c.1086C>G (p.Ser362Arg) c.918C>G (p.Ser306Arg) c.1209C>G (p.Ser403Arg) c.1081C>G (p.His361Asp) | |
4 | g.154569773C>T | CA442013637 | FGB | c.1218C>T (p.Ser406=) n.939+466C>T c.561C>T (p.Ser187=) c.1041C>T (p.Ser347=) c.1086C>T (p.Ser362=) c.918C>T (p.Ser306=) c.1209C>T (p.Ser403=) c.1081C>T (p.His361Tyr) | |
4 | g.154569773_154569774delinsCA | CA1504935635 | FGB | c.1218_1219delinsCA (p.Ser406=) n.939+466_939+467delinsCA c.561_562delinsCA (p.Ser187=) c.1041_1042delinsCA (p.Ser347=) c.1086_1087delinsCA (p.Ser362=) c.918_919delinsCA (p.Ser306=) c.1209_1210delinsCA (p.Ser403=) c.1081_1082delinsCA (p.His361=) | |
4 | g.154569774del | CA1069731987 | FGB | c.1219del (p.Thr407ArgfsTer10) n.939+467del c.562del (p.Thr188ArgfsTer10) c.1042del (p.Thr348ArgfsTer10) c.1087del (p.Thr363ArgfsTer10) c.1219del (p.Thr407ArgfsTer29) c.919del (p.Thr307ArgfsTer10) c.1210del (p.Thr404ArgfsTer10) c.1082del (p.His361ProfsTer?) c.1219del (p.Thr407ArgfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.154569774A>C | CA358515558 | FGB | c.1219A>C (p.Thr407Pro) n.939+467A>C c.562A>C (p.Thr188Pro) c.1042A>C (p.Thr348Pro) c.1087A>C (p.Thr363Pro) c.919A>C (p.Thr307Pro) c.1210A>C (p.Thr404Pro) c.1082A>C (p.His361Pro) | |
4 | g.154569774A>G | CA358515559 | FGB | c.1219A>G (p.Thr407Ala) n.939+467A>G c.562A>G (p.Thr188Ala) c.1042A>G (p.Thr348Ala) c.1087A>G (p.Thr363Ala) c.919A>G (p.Thr307Ala) c.1210A>G (p.Thr404Ala) c.1082A>G (p.His361Arg) | |
4 | g.154569774A>T | CA358515561 | FGB | c.1219A>T (p.Thr407Ser) n.939+467A>T c.562A>T (p.Thr188Ser) c.1042A>T (p.Thr348Ser) c.1087A>T (p.Thr363Ser) c.919A>T (p.Thr307Ser) c.1210A>T (p.Thr404Ser) c.1082A>T (p.His361Leu) | |
4 | g.154569775C>A | CA358515563 | FGB | c.1220C>A (p.Thr407Lys) n.939+468C>A c.563C>A (p.Thr188Lys) c.1043C>A (p.Thr348Lys) c.1088C>A (p.Thr363Lys) c.920C>A (p.Thr307Lys) c.1211C>A (p.Thr404Lys) c.1083C>A (p.His361Gln) | gnomAD v4 |
4 | g.154569775C= | CA1504935637 | FGB | c.1220C= (p.Thr407=) n.939+468C= c.563C= (p.Thr188=) c.1043C= (p.Thr348=) c.1088C= (p.Thr363=) c.920C= (p.Thr307=) c.1211C= (p.Thr404=) c.1083C= (p.His361=) | |
4 | g.154569775C>G | CA358515565 | FGB | c.1220C>G (p.Thr407Arg) n.939+468C>G c.563C>G (p.Thr188Arg) c.1043C>G (p.Thr348Arg) c.1088C>G (p.Thr363Arg) c.920C>G (p.Thr307Arg) c.1211C>G (p.Thr404Arg) c.1083C>G (p.His361Gln) | |
4 | g.154569775C>T | CA358515566 | FGB | c.1220C>T (p.Thr407Met) n.939+468C>T c.563C>T (p.Thr188Met) c.1043C>T (p.Thr348Met) c.1088C>T (p.Thr363Met) c.920C>T (p.Thr307Met) c.1211C>T (p.Thr404Met) c.1083C>T (p.His361=) | dbSNP gnomAD v4 COSMIC |
4 | g.154569776G>A | CA3114742 | FGB | c.1221G>A (p.Thr407=) n.939+469G>A c.564G>A (p.Thr188=) c.1044G>A (p.Thr348=) c.1089G>A (p.Thr363=) c.921G>A (p.Thr307=) c.1212G>A (p.Thr404=) c.1084G>A (p.Val362Ile) c.1220+1G>A (n.1220+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569776G>C | CA442013648 | FGB | c.1221G>C (p.Thr407=) n.939+469G>C c.564G>C (p.Thr188=) c.1044G>C (p.Thr348=) c.1089G>C (p.Thr363=) c.921G>C (p.Thr307=) c.1212G>C (p.Thr404=) c.1084G>C (p.Val362Leu) c.1220+1G>C (n.1220+1G>C) | dbSNP gnomAD v4 |
4 | g.154569776G= | CA1504935639 | FGB | c.1221G= (p.Thr407=) n.939+469G= c.564G= (p.Thr188=) c.1044G= (p.Thr348=) c.1089G= (p.Thr363=) c.921G= (p.Thr307=) c.1212G= (p.Thr404=) c.1084G= (p.Val362=) c.1220+1G= (n.1220+1G=) | |
4 | g.154569776G>T | CA442013650 | FGB | c.1221G>T (p.Thr407=) n.939+469G>T c.564G>T (p.Thr188=) c.1044G>T (p.Thr348=) c.1089G>T (p.Thr363=) c.921G>T (p.Thr307=) c.1212G>T (p.Thr404=) c.1084G>T (p.Val362Leu) c.1220+1G>T (n.1220+1G>T) | |
4 | g.154569777T>A | CA358515569 | FGB | c.1222T>A (p.Tyr408Asn) n.939+470T>A c.565T>A (p.Tyr189Asn) c.1045T>A (p.Tyr349Asn) c.1090T>A (p.Tyr364Asn) c.922T>A (p.Tyr308Asn) c.1213T>A (p.Tyr405Asn) c.1085T>A (p.Val362Glu) c.1220+2T>A (n.1220+2T>A) | dbSNP gnomAD v4 |
4 | g.154569777T>C | CA358515571 | FGB | c.1222T>C (p.Tyr408His) n.939+470T>C c.565T>C (p.Tyr189His) c.1045T>C (p.Tyr349His) c.1090T>C (p.Tyr364His) c.922T>C (p.Tyr308His) c.1213T>C (p.Tyr405His) c.1085T>C (p.Val362Ala) c.1220+2T>C (n.1220+2T>C) | gnomAD v4 |
4 | g.154569777T>G | CA358515572 | FGB | c.1222T>G (p.Tyr408Asp) n.939+470T>G c.565T>G (p.Tyr189Asp) c.1045T>G (p.Tyr349Asp) c.1090T>G (p.Tyr364Asp) c.922T>G (p.Tyr308Asp) c.1213T>G (p.Tyr405Asp) c.1085T>G (p.Val362Gly) c.1220+2T>G (n.1220+2T>G) | |
4 | g.154569777T= | CA1504935640 | FGB | c.1222T= (p.Tyr408=) n.939+470T= c.565T= (p.Tyr189=) c.1045T= (p.Tyr349=) c.1090T= (p.Tyr364=) c.922T= (p.Tyr308=) c.1213T= (p.Tyr405=) c.1085T= (p.Val362=) c.1220+2T= (n.1220+2T=) | |
4 | g.154569778A>C | CA358515574 | FGB | c.1223A>C (p.Tyr408Ser) n.939+471A>C c.566A>C (p.Tyr189Ser) c.1046A>C (p.Tyr349Ser) c.1091A>C (p.Tyr364Ser) c.923A>C (p.Tyr308Ser) c.1214A>C (p.Tyr405Ser) c.1086A>C (p.Val362=) c.1220+3A>C (n.1220+3A>C) | |
4 | g.154569778A>G | CA358515576 | FGB | c.1223A>G (p.Tyr408Cys) n.939+471A>G c.566A>G (p.Tyr189Cys) c.1046A>G (p.Tyr349Cys) c.1091A>G (p.Tyr364Cys) c.923A>G (p.Tyr308Cys) c.1214A>G (p.Tyr405Cys) c.1086A>G (p.Val362=) c.1220+3A>G (n.1220+3A>G) | gnomAD v4 |
4 | g.154569778A>T | CA358515577 | FGB | c.1223A>T (p.Tyr408Phe) n.939+471A>T c.566A>T (p.Tyr189Phe) c.1046A>T (p.Tyr349Phe) c.1091A>T (p.Tyr364Phe) c.923A>T (p.Tyr308Phe) c.1214A>T (p.Tyr405Phe) c.1086A>T (p.Val362=) c.1220+3A>T (n.1220+3A>T) | |
4 | g.154569779T>A | CA358515581 | FGB | c.1224T>A (p.Tyr408Ter) n.939+472T>A c.567T>A (p.Tyr189Ter) c.1047T>A (p.Tyr349Ter) c.1092T>A (p.Tyr364Ter) c.924T>A (p.Tyr308Ter) c.1215T>A (p.Tyr405Ter) c.1087T>A (p.Ter363Arg) c.1220+4T>A (n.1220+4T>A) | |
4 | g.154569779T>C | CA442013657 | FGB | c.1224T>C (p.Tyr408=) n.939+472T>C c.567T>C (p.Tyr189=) c.1047T>C (p.Tyr349=) c.1092T>C (p.Tyr364=) c.924T>C (p.Tyr308=) c.1215T>C (p.Tyr405=) c.1087T>C (p.Ter363Arg) c.1220+4T>C (n.1220+4T>C) | dbSNP |
4 | g.154569779T>G | CA358515579 | FGB | c.1224T>G (p.Tyr408Ter) n.939+472T>G c.567T>G (p.Tyr189Ter) c.1047T>G (p.Tyr349Ter) c.1092T>G (p.Tyr364Ter) c.924T>G (p.Tyr308Ter) c.1215T>G (p.Tyr405Ter) c.1087T>G (p.Ter363Gly) c.1220+4T>G (n.1220+4T>G) | |
4 | g.154569779T= | CA1504935641 | FGB | c.1224T= (p.Tyr408=) n.939+472T= c.567T= (p.Tyr189=) c.1047T= (p.Tyr349=) c.1092T= (p.Tyr364=) c.924T= (p.Tyr308=) c.1215T= (p.Tyr405=) c.1087T= (p.Ter363=) c.1220+4T= (n.1220+4T=) | |
4 | g.154569780G>A | CA358515582 | FGB | c.1225G>A (p.Asp409Asn) n.939+473G>A c.568G>A (p.Asp190Asn) c.1048G>A (p.Asp350Asn) c.1093G>A (p.Asp365Asn) c.925G>A (p.Asp309Asn) c.1216G>A (p.Asp406Asn) c.1088G>A (p.Ter363=) c.1220+5G>A (n.1220+5G>A) | ClinVar gnomAD v4 |
4 | g.154569780G>C | CA358515583 | FGB | c.1225G>C (p.Asp409His) n.939+473G>C c.568G>C (p.Asp190His) c.1048G>C (p.Asp350His) c.1093G>C (p.Asp365His) c.925G>C (p.Asp309His) c.1216G>C (p.Asp406His) c.1088G>C (p.Ter363Ser) c.1220+5G>C (n.1220+5G>C) | |
4 | g.154569780G>T | CA358515584 | FGB | c.1225G>T (p.Asp409Tyr) n.939+473G>T c.568G>T (p.Asp190Tyr) c.1048G>T (p.Asp350Tyr) c.1093G>T (p.Asp365Tyr) c.925G>T (p.Asp309Tyr) c.1216G>T (p.Asp406Tyr) c.1088G>T (p.Ter363Leu) c.1220+5G>T (n.1220+5G>T) | |
4 | g.154569781A= | CA1504935643 | FGB | c.1226A= (p.Asp409=) n.939+474A= c.569A= (p.Asp190=) c.1049A= (p.Asp350=) c.1094A= (p.Asp365=) c.926A= (p.Asp309=) c.1217A= (p.Asp406=) c.1089A= (p.Ter363=) c.1220+6A= (n.1220+6A=) | |
4 | g.154569781A>C | CA358515586 | FGB | c.1226A>C (p.Asp409Ala) n.939+474A>C c.569A>C (p.Asp190Ala) c.1049A>C (p.Asp350Ala) c.1094A>C (p.Asp365Ala) c.926A>C (p.Asp309Ala) c.1217A>C (p.Asp406Ala) c.1089A>C (p.Ter363Cys) c.1220+6A>C (n.1220+6A>C) | |
4 | g.154569781A>G | CA358515588 | FGB | c.1226A>G (p.Asp409Gly) n.939+474A>G c.569A>G (p.Asp190Gly) c.1049A>G (p.Asp350Gly) c.1094A>G (p.Asp365Gly) c.926A>G (p.Asp309Gly) c.1217A>G (p.Asp406Gly) c.1089A>G (p.Ter363Trp) c.1220+6A>G (n.1220+6A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569781A>T | CA358515590 | FGB | c.1226A>T (p.Asp409Val) n.939+474A>T c.569A>T (p.Asp190Val) c.1049A>T (p.Asp350Val) c.1094A>T (p.Asp365Val) c.926A>T (p.Asp309Val) c.1217A>T (p.Asp406Val) c.1089A>T (p.Ter363Cys) c.1220+6A>T (n.1220+6A>T) | gnomAD v4 |
4 | g.154569782C>A | CA358515592 | FGB | c.1227C>A (p.Asp409Glu) n.939+475C>A c.570C>A (p.Asp190Glu) c.1050C>A (p.Asp350Glu) c.1095C>A (p.Asp365Glu) c.927C>A (p.Asp309Glu) c.1218C>A (p.Asp406Glu) c.*1C>A (n.*1C>A) c.1220+7C>A (n.1220+7C>A) | |
4 | g.154569782C= | CA1504935645 | FGB | c.1227C= (p.Asp409=) n.939+475C= c.570C= (p.Asp190=) c.1050C= (p.Asp350=) c.1095C= (p.Asp365=) c.927C= (p.Asp309=) c.1218C= (p.Asp406=) c.*1C= (n.*1C=) c.1220+7C= (n.1220+7C=) | |
4 | g.154569782C>G | CA358515593 | FGB | c.1227C>G (p.Asp409Glu) n.939+475C>G c.570C>G (p.Asp190Glu) c.1050C>G (p.Asp350Glu) c.1095C>G (p.Asp365Glu) c.927C>G (p.Asp309Glu) c.1218C>G (p.Asp406Glu) c.*1C>G (n.*1C>G) c.1220+7C>G (n.1220+7C>G) | |
4 | g.154569782C>T | CA108751773 | FGB | c.1227C>T (p.Asp409=) n.939+475C>T c.570C>T (p.Asp190=) c.1050C>T (p.Asp350=) c.1095C>T (p.Asp365=) c.927C>T (p.Asp309=) c.1218C>T (p.Asp406=) c.*1C>T (n.*1C>T) c.1220+7C>T (n.1220+7C>T) | dbSNP |
4 | g.154569783A>C | CA442013663 | FGB | c.1228A>C (p.Arg410=) n.939+476A>C c.571A>C (p.Arg191=) c.1051A>C (p.Arg351=) c.1096A>C (p.Arg366=) c.928A>C (p.Arg310=) c.1219A>C (p.Arg407=) c.*2A>C (n.*2A>C) c.1220+8A>C (n.1220+8A>C) | |
4 | g.154569783A>G | CA358515594 | FGB | c.1228A>G (p.Arg410Gly) n.939+476A>G c.571A>G (p.Arg191Gly) c.1051A>G (p.Arg351Gly) c.1096A>G (p.Arg366Gly) c.928A>G (p.Arg310Gly) c.1219A>G (p.Arg407Gly) c.*2A>G (n.*2A>G) c.1220+8A>G (n.1220+8A>G) | |
4 | g.154569783A>T | CA358515596 | FGB | c.1228A>T (p.Arg410Ter) n.939+476A>T c.571A>T (p.Arg191Ter) c.1051A>T (p.Arg351Ter) c.1096A>T (p.Arg366Ter) c.928A>T (p.Arg310Ter) c.1219A>T (p.Arg407Ter) c.*2A>T (n.*2A>T) c.1220+8A>T (n.1220+8A>T) | |
4 | g.154569786_154569787dup | CA1504935647 | FGB | c.1231_1232dup (p.Asp411GlufsTer7) n.939+479_939+480dup c.574_575dup (p.Asp192GlufsTer7) c.1054_1055dup (p.Asp352GlufsTer7) c.1099_1100dup (p.Asp367GlufsTer7) c.1231_1232dup (p.Asp411GlufsTer26) c.931_932dup (p.Asp311GlufsTer7) c.1222_1223dup (p.Asp408GlufsTer7) c.*5_*6dup (n.*5_*6dup) c.1220+11_1220+12dup (n.1220+11_1220+12dup) | dbSNP |
4 | g.154569786_154569787del | CA2672441663 | FGB | c.1231_1232del (p.Asp411GlnfsTer2) n.939+479_939+480del c.574_575del (p.Asp192GlnfsTer2) c.1054_1055del (p.Asp352GlnfsTer2) c.1099_1100del (p.Asp367GlnfsTer2) c.931_932del (p.Asp311GlnfsTer2) c.1222_1223del (p.Asp408GlnfsTer2) c.*5_*6del (n.*5_*6del) c.1220+11_1220+12del (n.1220+11_1220+12del) | gnomAD v4 |
4 | g.154569784G>A | CA358515599 | FGB | c.1229G>A (p.Arg410Lys) n.939+477G>A c.572G>A (p.Arg191Lys) c.1052G>A (p.Arg351Lys) c.1097G>A (p.Arg366Lys) c.929G>A (p.Arg310Lys) c.1220G>A (p.Arg407Lys) c.*3G>A (n.*3G>A) c.1220+9G>A (n.1220+9G>A) | |
4 | g.154569784G>C | CA358515600 | FGB | c.1229G>C (p.Arg410Thr) n.939+477G>C c.572G>C (p.Arg191Thr) c.1052G>C (p.Arg351Thr) c.1097G>C (p.Arg366Thr) c.929G>C (p.Arg310Thr) c.1220G>C (p.Arg407Thr) c.*3G>C (n.*3G>C) c.1220+9G>C (n.1220+9G>C) | |
4 | g.154569784G= | CA1504935649 | FGB | c.1229G= (p.Arg410=) n.939+477G= c.572G= (p.Arg191=) c.1052G= (p.Arg351=) c.1097G= (p.Arg366=) c.929G= (p.Arg310=) c.1220G= (p.Arg407=) c.*3G= (n.*3G=) c.1220+9G= (n.1220+9G=) | |
4 | g.154569784G>T | CA358515602 | FGB | c.1229G>T (p.Arg410Ile) n.939+477G>T c.572G>T (p.Arg191Ile) c.1052G>T (p.Arg351Ile) c.1097G>T (p.Arg366Ile) c.929G>T (p.Arg310Ile) c.1220G>T (p.Arg407Ile) c.*3G>T (n.*3G>T) c.1220+9G>T (n.1220+9G>T) | dbSNP |
4 | g.154569785A= | CA1504935650 | FGB | c.1230A= (p.Arg410=) n.939+478A= c.573A= (p.Arg191=) c.1053A= (p.Arg351=) c.1098A= (p.Arg366=) c.930A= (p.Arg310=) c.1221A= (p.Arg407=) c.*4A= (n.*4A=) c.1220+10A= (n.1220+10A=) | |
4 | g.154569785A>C | CA358515604 | FGB | c.1230A>C (p.Arg410Ser) n.939+478A>C c.573A>C (p.Arg191Ser) c.1053A>C (p.Arg351Ser) c.1098A>C (p.Arg366Ser) c.930A>C (p.Arg310Ser) c.1221A>C (p.Arg407Ser) c.*4A>C (n.*4A>C) c.1220+10A>C (n.1220+10A>C) | |
4 | g.154569785A>G | CA108751777 | FGB | c.1230A>G (p.Arg410=) n.939+478A>G c.573A>G (p.Arg191=) c.1053A>G (p.Arg351=) c.1098A>G (p.Arg366=) c.930A>G (p.Arg310=) c.1221A>G (p.Arg407=) c.*4A>G (n.*4A>G) c.1220+10A>G (n.1220+10A>G) | dbSNP gnomAD v4 |
4 | g.154569785A>T | CA358515606 | FGB | c.1230A>T (p.Arg410Ser) n.939+478A>T c.573A>T (p.Arg191Ser) c.1053A>T (p.Arg351Ser) c.1098A>T (p.Arg366Ser) c.930A>T (p.Arg310Ser) c.1221A>T (p.Arg407Ser) c.*4A>T (n.*4A>T) c.1220+10A>T (n.1220+10A>T) | |
4 | g.154569786G>A | CA358515607 | FGB | c.1231G>A (p.Asp411Asn) n.939+479G>A c.574G>A (p.Asp192Asn) c.1054G>A (p.Asp352Asn) c.1099G>A (p.Asp367Asn) c.931G>A (p.Asp311Asn) c.1222G>A (p.Asp408Asn) c.*5G>A (n.*5G>A) c.1220+11G>A (n.1220+11G>A) | |
4 | g.154569786G>C | CA358515608 | FGB | c.1231G>C (p.Asp411His) n.939+479G>C c.574G>C (p.Asp192His) c.1054G>C (p.Asp352His) c.1099G>C (p.Asp367His) c.931G>C (p.Asp311His) c.1222G>C (p.Asp408His) c.*5G>C (n.*5G>C) c.1220+11G>C (n.1220+11G>C) | |
4 | g.154569786G>T | CA358515610 | FGB | c.1231G>T (p.Asp411Tyr) n.939+479G>T c.574G>T (p.Asp192Tyr) c.1054G>T (p.Asp352Tyr) c.1099G>T (p.Asp367Tyr) c.931G>T (p.Asp311Tyr) c.1222G>T (p.Asp408Tyr) c.*5G>T (n.*5G>T) c.1220+11G>T (n.1220+11G>T) | |
4 | g.154569787A>C | CA358515612 | FGB | c.1232A>C (p.Asp411Ala) n.939+480A>C c.575A>C (p.Asp192Ala) c.1055A>C (p.Asp352Ala) c.1100A>C (p.Asp367Ala) c.932A>C (p.Asp311Ala) c.1223A>C (p.Asp408Ala) c.*6A>C (n.*6A>C) c.1220+12A>C (n.1220+12A>C) | |
4 | g.154569787A>G | CA358515614 | FGB | c.1232A>G (p.Asp411Gly) n.939+480A>G c.575A>G (p.Asp192Gly) c.1055A>G (p.Asp352Gly) c.1100A>G (p.Asp367Gly) c.932A>G (p.Asp311Gly) c.1223A>G (p.Asp408Gly) c.*6A>G (n.*6A>G) c.1220+12A>G (n.1220+12A>G) | |
4 | g.154569787A>T | CA358515615 | FGB | c.1232A>T (p.Asp411Val) n.939+480A>T c.575A>T (p.Asp192Val) c.1055A>T (p.Asp352Val) c.1100A>T (p.Asp367Val) c.932A>T (p.Asp311Val) c.1223A>T (p.Asp408Val) c.*6A>T (n.*6A>T) c.1220+12A>T (n.1220+12A>T) | |
4 | g.154569788C>A | CA358515617 | FGB | c.1233C>A (p.Asp411Glu) n.939+481C>A c.576C>A (p.Asp192Glu) c.1056C>A (p.Asp352Glu) c.1101C>A (p.Asp367Glu) c.933C>A (p.Asp311Glu) c.1224C>A (p.Asp408Glu) c.*7C>A (n.*7C>A) c.1220+13C>A (n.1220+13C>A) | dbSNP gnomAD v4 |
4 | g.154569788C= | CA1504935651 | FGB | c.1233C= (p.Asp411=) n.939+481C= c.576C= (p.Asp192=) c.1056C= (p.Asp352=) c.1101C= (p.Asp367=) c.933C= (p.Asp311=) c.1224C= (p.Asp408=) c.*7C= (n.*7C=) c.1220+13C= (n.1220+13C=) | |
4 | g.154569788C>G | CA358515619 | FGB | c.1233C>G (p.Asp411Glu) n.939+481C>G c.576C>G (p.Asp192Glu) c.1056C>G (p.Asp352Glu) c.1101C>G (p.Asp367Glu) c.933C>G (p.Asp311Glu) c.1224C>G (p.Asp408Glu) c.*7C>G (n.*7C>G) c.1220+13C>G (n.1220+13C>G) | |
4 | g.154569788C>T | CA442013675 | FGB | c.1233C>T (p.Asp411=) n.939+481C>T c.576C>T (p.Asp192=) c.1056C>T (p.Asp352=) c.1101C>T (p.Asp367=) c.933C>T (p.Asp311=) c.1224C>T (p.Asp408=) c.*7C>T (n.*7C>T) c.1220+13C>T (n.1220+13C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.154569789A= | CA1504935652 | FGB | c.1234A= (p.Asn412=) n.939+482A= c.577A= (p.Asn193=) c.1057A= (p.Asn353=) c.1102A= (p.Asn368=) c.934A= (p.Asn312=) c.1225A= (p.Asn409=) c.*8A= (n.*8A=) c.1220+14A= (n.1220+14A=) | |
4 | g.154569789A>C | CA358515621 | FGB | c.1234A>C (p.Asn412His) n.939+482A>C c.577A>C (p.Asn193His) c.1057A>C (p.Asn353His) c.1102A>C (p.Asn368His) c.934A>C (p.Asn312His) c.1225A>C (p.Asn409His) c.*8A>C (n.*8A>C) c.1220+14A>C (n.1220+14A>C) | |
4 | g.154569789A>G | CA358515622 | FGB | c.1234A>G (p.Asn412Asp) n.939+482A>G c.577A>G (p.Asn193Asp) c.1057A>G (p.Asn353Asp) c.1102A>G (p.Asn368Asp) c.934A>G (p.Asn312Asp) c.1225A>G (p.Asn409Asp) c.*8A>G (n.*8A>G) c.1220+14A>G (n.1220+14A>G) | |
4 | g.154569789A>T | CA108751781 | FGB | c.1234A>T (p.Asn412Tyr) n.939+482A>T c.577A>T (p.Asn193Tyr) c.1057A>T (p.Asn353Tyr) c.1102A>T (p.Asn368Tyr) c.934A>T (p.Asn312Tyr) c.1225A>T (p.Asn409Tyr) c.*8A>T (n.*8A>T) c.1220+14A>T (n.1220+14A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569790A= | CA1504935653 | FGB | c.1235A= (p.Asn412=) n.939+483A= c.578A= (p.Asn193=) c.1058A= (p.Asn353=) c.1103A= (p.Asn368=) c.935A= (p.Asn312=) c.1226A= (p.Asn409=) c.*9A= (n.*9A=) c.1220+15A= (n.1220+15A=) | |
4 | g.154569790A>C | CA358515624 | FGB | c.1235A>C (p.Asn412Thr) n.939+483A>C c.578A>C (p.Asn193Thr) c.1058A>C (p.Asn353Thr) c.1103A>C (p.Asn368Thr) c.935A>C (p.Asn312Thr) c.1226A>C (p.Asn409Thr) c.*9A>C (n.*9A>C) c.1220+15A>C (n.1220+15A>C) | |
4 | g.154569790A>G | CA358515626 | FGB | c.1235A>G (p.Asn412Ser) n.939+483A>G c.578A>G (p.Asn193Ser) c.1058A>G (p.Asn353Ser) c.1103A>G (p.Asn368Ser) c.935A>G (p.Asn312Ser) c.1226A>G (p.Asn409Ser) c.*9A>G (n.*9A>G) c.1220+15A>G (n.1220+15A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569790A>T | CA358515628 | FGB | c.1235A>T (p.Asn412Ile) n.939+483A>T c.578A>T (p.Asn193Ile) c.1058A>T (p.Asn353Ile) c.1103A>T (p.Asn368Ile) c.935A>T (p.Asn312Ile) c.1226A>T (p.Asn409Ile) c.*9A>T (n.*9A>T) c.1220+15A>T (n.1220+15A>T) | |
4 | g.154569791T>A | CA358515629 | FGB | c.1236T>A (p.Asn412Lys) n.939+484T>A c.579T>A (p.Asn193Lys) c.1059T>A (p.Asn353Lys) c.1104T>A (p.Asn368Lys) c.936T>A (p.Asn312Lys) c.1227T>A (p.Asn409Lys) c.*10T>A (n.*10T>A) c.1220+16T>A (n.1220+16T>A) | |
4 | g.154569791T>C | CA442013679 | FGB | c.1236T>C (p.Asn412=) n.939+484T>C c.579T>C (p.Asn193=) c.1059T>C (p.Asn353=) c.1104T>C (p.Asn368=) c.936T>C (p.Asn312=) c.1227T>C (p.Asn409=) c.*10T>C (n.*10T>C) c.1220+16T>C (n.1220+16T>C) | dbSNP |
4 | g.154569791T>G | CA358515630 | FGB | c.1236T>G (p.Asn412Lys) n.939+484T>G c.579T>G (p.Asn193Lys) c.1059T>G (p.Asn353Lys) c.1104T>G (p.Asn368Lys) c.936T>G (p.Asn312Lys) c.1227T>G (p.Asn409Lys) c.*10T>G (n.*10T>G) c.1220+16T>G (n.1220+16T>G) | |
4 | g.154569791T= | CA1504935654 | FGB | c.1236T= (p.Asn412=) n.939+484T= c.579T= (p.Asn193=) c.1059T= (p.Asn353=) c.1104T= (p.Asn368=) c.936T= (p.Asn312=) c.1227T= (p.Asn409=) c.*10T= (n.*10T=) c.1220+16T= (n.1220+16T=) | |
4 | g.154569792G>A | CA358515632 | FGB | c.1237G>A (p.Asp413Asn) n.939+485G>A c.580G>A (p.Asp194Asn) c.1060G>A (p.Asp354Asn) c.1105G>A (p.Asp369Asn) c.937G>A (p.Asp313Asn) c.1228G>A (p.Asp410Asn) c.*11G>A (n.*11G>A) c.1220+17G>A (n.1220+17G>A) | gnomAD v4 |
4 | g.154569792G>C | CA358515634 | FGB | c.1237G>C (p.Asp413His) n.939+485G>C c.580G>C (p.Asp194His) c.1060G>C (p.Asp354His) c.1105G>C (p.Asp369His) c.937G>C (p.Asp313His) c.1228G>C (p.Asp410His) c.*11G>C (n.*11G>C) c.1220+17G>C (n.1220+17G>C) | |
4 | g.154569792G>T | CA358515636 | FGB | c.1237G>T (p.Asp413Tyr) n.939+485G>T c.580G>T (p.Asp194Tyr) c.1060G>T (p.Asp354Tyr) c.1105G>T (p.Asp369Tyr) c.937G>T (p.Asp313Tyr) c.1228G>T (p.Asp410Tyr) c.*11G>T (n.*11G>T) c.1220+17G>T (n.1220+17G>T) | |
4 | g.154569793A>C | CA358515638 | FGB | c.1238A>C (p.Asp413Ala) n.939+486A>C c.581A>C (p.Asp194Ala) c.1061A>C (p.Asp354Ala) c.1106A>C (p.Asp369Ala) c.938A>C (p.Asp313Ala) c.1229A>C (p.Asp410Ala) c.*12A>C (n.*12A>C) c.1220+18A>C (n.1220+18A>C) | |
4 | g.154569793A>G | CA358515639 | FGB | c.1238A>G (p.Asp413Gly) n.939+486A>G c.581A>G (p.Asp194Gly) c.1061A>G (p.Asp354Gly) c.1106A>G (p.Asp369Gly) c.938A>G (p.Asp313Gly) c.1229A>G (p.Asp410Gly) c.*12A>G (n.*12A>G) c.1220+18A>G (n.1220+18A>G) | gnomAD v4 |
4 | g.154569793A>T | CA358515640 | FGB | c.1238A>T (p.Asp413Val) n.939+486A>T c.581A>T (p.Asp194Val) c.1061A>T (p.Asp354Val) c.1106A>T (p.Asp369Val) c.938A>T (p.Asp313Val) c.1229A>T (p.Asp410Val) c.*12A>T (n.*12A>T) c.1220+18A>T (n.1220+18A>T) | |
4 | g.154569794C>A | CA358515642 | FGB | c.1239C>A (p.Asp413Glu) n.939+487C>A c.582C>A (p.Asp194Glu) c.1062C>A (p.Asp354Glu) c.1107C>A (p.Asp369Glu) c.939C>A (p.Asp313Glu) c.1230C>A (p.Asp410Glu) c.*13C>A (n.*13C>A) c.1220+19C>A (n.1220+19C>A) | |
4 | g.154569794C= | CA1504935655 | FGB | c.1239C= (p.Asp413=) n.939+487C= c.582C= (p.Asp194=) c.1062C= (p.Asp354=) c.1107C= (p.Asp369=) c.939C= (p.Asp313=) c.1230C= (p.Asp410=) c.*13C= (n.*13C=) c.1220+19C= (n.1220+19C=) | |
4 | g.154569794C>G | CA358515644 | FGB | c.1239C>G (p.Asp413Glu) n.939+487C>G c.582C>G (p.Asp194Glu) c.1062C>G (p.Asp354Glu) c.1107C>G (p.Asp369Glu) c.939C>G (p.Asp313Glu) c.1230C>G (p.Asp410Glu) c.*13C>G (n.*13C>G) c.1220+19C>G (n.1220+19C>G) | gnomAD v4 |
4 | g.154569794C>T | CA3114743 | FGB | c.1239C>T (p.Asp413=) n.939+487C>T c.582C>T (p.Asp194=) c.1062C>T (p.Asp354=) c.1107C>T (p.Asp369=) c.939C>T (p.Asp313=) c.1230C>T (p.Asp410=) c.*13C>T (n.*13C>T) c.1220+19C>T (n.1220+19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569795G>A | CA3114744 | FGB | c.1240G>A (p.Gly414Ser) n.939+488G>A c.583G>A (p.Gly195Ser) c.1063G>A (p.Gly355Ser) c.1108G>A (p.Gly370Ser) c.940G>A (p.Gly314Ser) c.1231G>A (p.Gly411Ser) c.*14G>A (n.*14G>A) c.1220+20G>A (n.1220+20G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569795G>C | CA358515647 | FGB | c.1240G>C (p.Gly414Arg) n.939+488G>C c.583G>C (p.Gly195Arg) c.1063G>C (p.Gly355Arg) c.1108G>C (p.Gly370Arg) c.940G>C (p.Gly314Arg) c.1231G>C (p.Gly411Arg) c.*14G>C (n.*14G>C) c.1220+20G>C (n.1220+20G>C) | |
4 | g.154569795G= | CA1504935656 | FGB | c.1240G= (p.Gly414=) n.939+488G= c.583G= (p.Gly195=) c.1063G= (p.Gly355=) c.1108G= (p.Gly370=) c.940G= (p.Gly314=) c.1231G= (p.Gly411=) c.*14G= (n.*14G=) c.1220+20G= (n.1220+20G=) | |
4 | g.154569795G>T | CA358515649 | FGB | c.1240G>T (p.Gly414Cys) n.939+488G>T c.583G>T (p.Gly195Cys) c.1063G>T (p.Gly355Cys) c.1108G>T (p.Gly370Cys) c.940G>T (p.Gly314Cys) c.1231G>T (p.Gly411Cys) c.*14G>T (n.*14G>T) c.1220+20G>T (n.1220+20G>T) | gnomAD v4 COSMIC |
4 | g.154569796del | CA915940559 | FGB | c.1241del (p.Gly414AlafsTer3) n.939+489del c.584del (p.Gly195AlafsTer3) c.1064del (p.Gly355AlafsTer3) c.1109del (p.Gly370AlafsTer3) c.1241del (p.Gly414AlafsTer22) c.941del (p.Gly314AlafsTer3) c.1232del (p.Gly411AlafsTer3) c.*15del (n.*15del) c.1220+21del (n.1220+21del) | |
4 | g.154569796G>A | CA358515651 | FGB | c.1241G>A (p.Gly414Asp) n.939+489G>A c.584G>A (p.Gly195Asp) c.1064G>A (p.Gly355Asp) c.1109G>A (p.Gly370Asp) c.941G>A (p.Gly314Asp) c.1232G>A (p.Gly411Asp) c.*15G>A (n.*15G>A) c.1220+21G>A (n.1220+21G>A) | gnomAD v4 |
4 | g.154569796G>C | CA358515654 | FGB | c.1241G>C (p.Gly414Ala) n.939+489G>C c.584G>C (p.Gly195Ala) c.1064G>C (p.Gly355Ala) c.1109G>C (p.Gly370Ala) c.941G>C (p.Gly314Ala) c.1232G>C (p.Gly411Ala) c.*15G>C (n.*15G>C) c.1220+21G>C (n.1220+21G>C) | |
4 | g.154569796G>T | CA358515652 | FGB | c.1241G>T (p.Gly414Val) n.939+489G>T c.584G>T (p.Gly195Val) c.1064G>T (p.Gly355Val) c.1109G>T (p.Gly370Val) c.941G>T (p.Gly314Val) c.1232G>T (p.Gly411Val) c.*15G>T (n.*15G>T) c.1220+21G>T (n.1220+21G>T) | |
4 | g.154569797C>A | CA442013686 | FGB | c.1242C>A (p.Gly414=) n.939+490C>A c.585C>A (p.Gly195=) c.1065C>A (p.Gly355=) c.1110C>A (p.Gly370=) c.942C>A (p.Gly314=) c.1233C>A (p.Gly411=) c.*16C>A (n.*16C>A) c.1220+22C>A (n.1220+22C>A) | |
4 | g.154569797C>G | CA442013688 | FGB | c.1242C>G (p.Gly414=) n.939+490C>G c.585C>G (p.Gly195=) c.1065C>G (p.Gly355=) c.1110C>G (p.Gly370=) c.942C>G (p.Gly314=) c.1233C>G (p.Gly411=) c.*16C>G (n.*16C>G) c.1220+22C>G (n.1220+22C>G) | |
4 | g.154569797C>T | CA442013690 | FGB | c.1242C>T (p.Gly414=) n.939+490C>T c.585C>T (p.Gly195=) c.1065C>T (p.Gly355=) c.1110C>T (p.Gly370=) c.942C>T (p.Gly314=) c.1233C>T (p.Gly411=) c.*16C>T (n.*16C>T) c.1220+22C>T (n.1220+22C>T) | gnomAD v4 |
4 | g.154569798T>A | CA358515656 | FGB | c.1243T>A (p.Trp415Arg) n.939+491T>A c.586T>A (p.Trp196Arg) c.1066T>A (p.Trp356Arg) c.1111T>A (p.Trp371Arg) c.1243T>A (p.Cys415Ser) c.1243T>A (p.Ter415Arg) c.943T>A (p.Trp315Arg) c.1234T>A (p.Trp412Arg) c.*17T>A (n.*17T>A) c.1220+23T>A (n.1220+23T>A) | |
4 | g.154569798T>C | CA358515658 | FGB | c.1243T>C (p.Trp415Arg) n.939+491T>C c.586T>C (p.Trp196Arg) c.1066T>C (p.Trp356Arg) c.1111T>C (p.Trp371Arg) c.1243T>C (p.Cys415Arg) c.1243T>C (p.Ter415Arg) c.943T>C (p.Trp315Arg) c.1234T>C (p.Trp412Arg) c.*17T>C (n.*17T>C) c.1220+23T>C (n.1220+23T>C) | |
4 | g.154569798T>G | CA358515657 | FGB | c.1243T>G (p.Trp415Gly) n.939+491T>G c.586T>G (p.Trp196Gly) c.1066T>G (p.Trp356Gly) c.1111T>G (p.Trp371Gly) c.1243T>G (p.Cys415Gly) c.1243T>G (p.Ter415Gly) c.943T>G (p.Trp315Gly) c.1234T>G (p.Trp412Gly) c.*17T>G (n.*17T>G) c.1220+23T>G (n.1220+23T>G) | |
4 | g.154569798_154569799delinsTG | CA1504935657 | FGB | c.1243_1244delinsTG (p.Trp415=) n.939+491_939+492delinsTG c.586_587delinsTG (p.Trp196=) c.1066_1067delinsTG (p.Trp356=) c.1111_1112delinsTG (p.Trp371=) c.1243_1244delinsTG (p.Cys415=) c.1243_1244delinsTG (p.Ter415=) c.943_944delinsTG (p.Trp315=) c.1234_1235delinsTG (p.Trp412=) c.*17_*18delinsTG (n.*17_*18delinsTG) c.1220+23_1220+24delinsTG (n.1220+23_1220+24delinsTG) | |
4 | g.154569799G>A | CA358515659 | FGB | c.1244G>A (p.Trp415Ter) n.939+492G>A c.587G>A (p.Trp196Ter) c.1067G>A (p.Trp356Ter) c.1112G>A (p.Trp371Ter) c.1244G>A (p.Cys415Tyr) c.1244G>A (p.Ter415=) c.944G>A (p.Trp315Ter) c.1235G>A (p.Trp412Ter) c.*18G>A (n.*18G>A) c.1220+24G>A (n.1220+24G>A) | |
4 | g.154569799G>C | CA358515662 | FGB | c.1244G>C (p.Trp415Ser) n.939+492G>C c.587G>C (p.Trp196Ser) c.1067G>C (p.Trp356Ser) c.1112G>C (p.Trp371Ser) c.1244G>C (p.Cys415Ser) c.1244G>C (p.Ter415Ser) c.944G>C (p.Trp315Ser) c.1235G>C (p.Trp412Ser) c.*18G>C (n.*18G>C) c.1220+24G>C (n.1220+24G>C) | |
4 | g.154569799G= | CA1504935658 | FGB | c.1244G= (p.Trp415=) n.939+492G= c.587G= (p.Trp196=) c.1067G= (p.Trp356=) c.1112G= (p.Trp371=) c.1244G= (p.Cys415=) c.1244G= (p.Ter415=) c.944G= (p.Trp315=) c.1235G= (p.Trp412=) c.*18G= (n.*18G=) c.1220+24G= (n.1220+24G=) | |
4 | g.154569799G>T | CA358515660 | FGB | c.1244G>T (p.Trp415Leu) n.939+492G>T c.587G>T (p.Trp196Leu) c.1067G>T (p.Trp356Leu) c.1112G>T (p.Trp371Leu) c.1244G>T (p.Cys415Phe) c.1244G>T (p.Ter415Leu) c.944G>T (p.Trp315Leu) c.1235G>T (p.Trp412Leu) c.*18G>T (n.*18G>T) c.1220+24G>T (n.1220+24G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569800del | CA555971633 | FGB | c.1244+1del n.939+493del c.587+1del c.1067+1del c.1112+1del c.944+1del c.1235+1del c.*18+1del c.1220+25del (n.1220+25del) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.154569800G>A | CA358515663 | FGB | c.1244+1G>A (n.1244+1G>A) n.939+493G>A c.587+1G>A (n.587+1G>A) c.1067+1G>A (n.1067+1G>A) c.1112+1G>A (n.1112+1G>A) c.944+1G>A (n.944+1G>A) c.1235+1G>A (n.1235+1G>A) c.*18+1G>A (n.*18+1G>A) c.1220+25G>A (n.1220+25G>A) | |
4 | g.154569800G>C | CA358515665 | FGB | c.1244+1G>C (n.1244+1G>C) n.939+493G>C c.587+1G>C (n.587+1G>C) c.1067+1G>C (n.1067+1G>C) c.1112+1G>C (n.1112+1G>C) c.944+1G>C (n.944+1G>C) c.1235+1G>C (n.1235+1G>C) c.*18+1G>C (n.*18+1G>C) c.1220+25G>C (n.1220+25G>C) | dbSNP |
4 | g.154569800G= | CA1504935659 | FGB | c.1244+1G= (n.1244+1G=) n.939+493G= c.587+1G= (n.587+1G=) c.1067+1G= (n.1067+1G=) c.1112+1G= (n.1112+1G=) c.944+1G= (n.944+1G=) c.1235+1G= (n.1235+1G=) c.*18+1G= (n.*18+1G=) c.1220+25G= (n.1220+25G=) | |
4 | g.154569800G>T | CA126449 | FGB | c.1244+1G>T (n.1244+1G>T) n.939+493G>T c.587+1G>T (n.587+1G>T) c.1067+1G>T (n.1067+1G>T) c.1112+1G>T (n.1112+1G>T) c.944+1G>T (n.944+1G>T) c.1235+1G>T (n.1235+1G>T) c.*18+1G>T (n.*18+1G>T) c.1220+25G>T (n.1220+25G>T) | ClinVar dbSNP |
4 | g.154569801T>A | CA358515668 | FGB | c.1244+2T>A (n.1244+2T>A) n.939+494T>A c.587+2T>A (n.587+2T>A) c.1067+2T>A (n.1067+2T>A) c.1112+2T>A (n.1112+2T>A) c.944+2T>A (n.944+2T>A) c.1235+2T>A (n.1235+2T>A) c.*18+2T>A (n.*18+2T>A) c.1220+26T>A (n.1220+26T>A) | |
4 | g.154569801T>C | CA358515669 | FGB | c.1244+2T>C (n.1244+2T>C) n.939+494T>C c.587+2T>C (n.587+2T>C) c.1067+2T>C (n.1067+2T>C) c.1112+2T>C (n.1112+2T>C) c.944+2T>C (n.944+2T>C) c.1235+2T>C (n.1235+2T>C) c.*18+2T>C (n.*18+2T>C) c.1220+26T>C (n.1220+26T>C) | |
4 | g.154569801T>G | CA3114745 | FGB | c.1244+2T>G (n.1244+2T>G) n.939+494T>G c.587+2T>G (n.587+2T>G) c.1067+2T>G (n.1067+2T>G) c.1112+2T>G (n.1112+2T>G) c.944+2T>G (n.944+2T>G) c.1235+2T>G (n.1235+2T>G) c.*18+2T>G (n.*18+2T>G) c.1220+26T>G (n.1220+26T>G) | dbSNP ExAC gnomAD v2 |
4 | g.154569801T= | CA1504935660 | FGB | c.1244+2T= (n.1244+2T=) n.939+494T= c.587+2T= (n.587+2T=) c.1067+2T= (n.1067+2T=) c.1112+2T= (n.1112+2T=) c.944+2T= (n.944+2T=) c.1235+2T= (n.1235+2T=) c.*18+2T= (n.*18+2T=) c.1220+26T= (n.1220+26T=) |