| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |