Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
4 | g.154569802A= | CA1504935661 | FGB | c.1244+3A= (n.1244+3A=) n.939+495A= c.587+3A= (n.587+3A=) c.1067+3A= (n.1067+3A=) c.1112+3A= (n.1112+3A=) c.944+3A= (n.944+3A=) c.1235+3A= (n.1235+3A=) c.*18+3A= (n.*18+3A=) c.1220+27A= (n.1220+27A=) | |
4 | g.154569802A>T | CA108751808 | FGB | c.1244+3A>T (n.1244+3A>T) n.939+495A>T c.587+3A>T (n.587+3A>T) c.1067+3A>T (n.1067+3A>T) c.1112+3A>T (n.1112+3A>T) c.944+3A>T (n.944+3A>T) c.1235+3A>T (n.1235+3A>T) c.*18+3A>T (n.*18+3A>T) c.1220+27A>T (n.1220+27A>T) | dbSNP |
4 | g.154569803T>A | CA555971634 | FGB | c.1244+4T>A (n.1244+4T>A) n.939+496T>A c.587+4T>A (n.587+4T>A) c.1067+4T>A (n.1067+4T>A) c.1112+4T>A (n.1112+4T>A) c.944+4T>A (n.944+4T>A) c.1235+4T>A (n.1235+4T>A) c.*18+4T>A (n.*18+4T>A) c.1220+28T>A (n.1220+28T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569803T= | CA1504935662 | FGB | c.1244+4T= (n.1244+4T=) n.939+496T= c.587+4T= (n.587+4T=) c.1067+4T= (n.1067+4T=) c.1112+4T= (n.1112+4T=) c.944+4T= (n.944+4T=) c.1235+4T= (n.1235+4T=) c.*18+4T= (n.*18+4T=) c.1220+28T= (n.1220+28T=) | |
4 | g.154569804G>A | CA108751811 | FGB | c.1244+5G>A (n.1244+5G>A) n.939+497G>A c.587+5G>A (n.587+5G>A) c.1067+5G>A (n.1067+5G>A) c.1112+5G>A (n.1112+5G>A) c.944+5G>A (n.944+5G>A) c.1235+5G>A (n.1235+5G>A) c.*18+5G>A (n.*18+5G>A) c.1220+29G>A (n.1220+29G>A) | dbSNP gnomAD v4 |
4 | g.154569804G= | CA1504935663 | FGB | c.1244+5G= (n.1244+5G=) n.939+497G= c.587+5G= (n.587+5G=) c.1067+5G= (n.1067+5G=) c.1112+5G= (n.1112+5G=) c.944+5G= (n.944+5G=) c.1235+5G= (n.1235+5G=) c.*18+5G= (n.*18+5G=) c.1220+29G= (n.1220+29G=) | |
4 | g.154569806G>A | CA3114746 | FGB | c.1244+7G>A (n.1244+7G>A) n.939+499G>A c.587+7G>A (n.587+7G>A) c.1067+7G>A (n.1067+7G>A) c.1112+7G>A (n.1112+7G>A) c.944+7G>A (n.944+7G>A) c.1235+7G>A (n.1235+7G>A) c.*18+7G>A (n.*18+7G>A) c.1220+31G>A (n.1220+31G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569806G= | CA1504935664 | FGB | c.1244+7G= (n.1244+7G=) n.939+499G= c.587+7G= (n.587+7G=) c.1067+7G= (n.1067+7G=) c.1112+7G= (n.1112+7G=) c.944+7G= (n.944+7G=) c.1235+7G= (n.1235+7G=) c.*18+7G= (n.*18+7G=) c.1220+31G= (n.1220+31G=) | |
4 | g.154569808G>C | CA3114747 | FGB | c.1244+9G>C (n.1244+9G>C) n.939+501G>C c.587+9G>C (n.587+9G>C) c.1067+9G>C (n.1067+9G>C) c.1112+9G>C (n.1112+9G>C) c.944+9G>C (n.944+9G>C) c.1235+9G>C (n.1235+9G>C) c.*18+9G>C (n.*18+9G>C) c.1220+33G>C (n.1220+33G>C) | dbSNP ExAC gnomAD v2 |
4 | g.154569808G= | CA1504935665 | FGB | c.1244+9G= (n.1244+9G=) n.939+501G= c.587+9G= (n.587+9G=) c.1067+9G= (n.1067+9G=) c.1112+9G= (n.1112+9G=) c.944+9G= (n.944+9G=) c.1235+9G= (n.1235+9G=) c.*18+9G= (n.*18+9G=) c.1220+33G= (n.1220+33G=) | |
4 | g.154569809G>A | CA3114748 | FGB | c.1244+10G>A (n.1244+10G>A) n.939+502G>A c.587+10G>A (n.587+10G>A) c.1067+10G>A (n.1067+10G>A) c.1112+10G>A (n.1112+10G>A) c.944+10G>A (n.944+10G>A) c.1235+10G>A (n.1235+10G>A) c.*18+10G>A (n.*18+10G>A) c.1220+34G>A (n.1220+34G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569809G= | CA1504935666 | FGB | c.1244+10G= (n.1244+10G=) n.939+502G= c.587+10G= (n.587+10G=) c.1067+10G= (n.1067+10G=) c.1112+10G= (n.1112+10G=) c.944+10G= (n.944+10G=) c.1235+10G= (n.1235+10G=) c.*18+10G= (n.*18+10G=) c.1220+34G= (n.1220+34G=) | |
4 | g.154569809G>T | CA2672441738 | FGB | c.1244+10G>T (n.1244+10G>T) n.939+502G>T c.587+10G>T (n.587+10G>T) c.1067+10G>T (n.1067+10G>T) c.1112+10G>T (n.1112+10G>T) c.944+10G>T (n.944+10G>T) c.1235+10G>T (n.1235+10G>T) c.*18+10G>T (n.*18+10G>T) c.1220+34G>T (n.1220+34G>T) | gnomAD v4 |
4 | g.154569812C>A | CA1504935668 | FGB | c.1244+13C>A (n.1244+13C>A) n.939+505C>A c.587+13C>A (n.587+13C>A) c.1067+13C>A (n.1067+13C>A) c.1112+13C>A (n.1112+13C>A) c.944+13C>A (n.944+13C>A) c.1235+13C>A (n.1235+13C>A) c.*18+13C>A (n.*18+13C>A) c.1220+37C>A (n.1220+37C>A) | dbSNP |
4 | g.154569812C= | CA1504935667 | FGB | c.1244+13C= (n.1244+13C=) n.939+505C= c.587+13C= (n.587+13C=) c.1067+13C= (n.1067+13C=) c.1112+13C= (n.1112+13C=) c.944+13C= (n.944+13C=) c.1235+13C= (n.1235+13C=) c.*18+13C= (n.*18+13C=) c.1220+37C= (n.1220+37C=) | |
4 | g.154569812C>T | CA2672441740 | FGB | c.1244+13C>T (n.1244+13C>T) n.939+505C>T c.587+13C>T (n.587+13C>T) c.1067+13C>T (n.1067+13C>T) c.1112+13C>T (n.1112+13C>T) c.944+13C>T (n.944+13C>T) c.1235+13C>T (n.1235+13C>T) c.*18+13C>T (n.*18+13C>T) c.1220+37C>T (n.1220+37C>T) | gnomAD v4 |
4 | g.154569814C= | CA1504935669 | FGB | c.1244+15C= (n.1244+15C=) n.939+507C= c.587+15C= (n.587+15C=) c.1067+15C= (n.1067+15C=) c.1112+15C= (n.1112+15C=) c.944+15C= (n.944+15C=) c.1235+15C= (n.1235+15C=) c.*18+15C= (n.*18+15C=) c.1220+39C= (n.1220+39C=) | |
4 | g.154569814C>G | CA2672441743 | FGB | c.1244+15C>G (n.1244+15C>G) n.939+507C>G c.587+15C>G (n.587+15C>G) c.1067+15C>G (n.1067+15C>G) c.1112+15C>G (n.1112+15C>G) c.944+15C>G (n.944+15C>G) c.1235+15C>G (n.1235+15C>G) c.*18+15C>G (n.*18+15C>G) c.1220+39C>G (n.1220+39C>G) | gnomAD v4 |
4 | g.154569814C>T | CA3114749 | FGB | c.1244+15C>T (n.1244+15C>T) n.939+507C>T c.587+15C>T (n.587+15C>T) c.1067+15C>T (n.1067+15C>T) c.1112+15C>T (n.1112+15C>T) c.944+15C>T (n.944+15C>T) c.1235+15C>T (n.1235+15C>T) c.*18+15C>T (n.*18+15C>T) c.1220+39C>T (n.1220+39C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.154569814_154569816delinsCTT | CA1504935670 | FGB | c.1244+15_1244+17delinsCTT (n.1244+15_1244+17delinsCTT) n.939+507_939+509delinsCTT c.587+15_587+17delinsCTT (n.587+15_587+17delinsCTT) c.1067+15_1067+17delinsCTT (n.1067+15_1067+17delinsCTT) c.1112+15_1112+17delinsCTT (n.1112+15_1112+17delinsCTT) c.944+15_944+17delinsCTT (n.944+15_944+17delinsCTT) c.1235+15_1235+17delinsCTT (n.1235+15_1235+17delinsCTT) c.*18+15_*18+17delinsCTT (n.*18+15_*18+17delinsCTT) c.1220+39_1220+41delinsCTT (n.1220+39_1220+41delinsCTT) | |
4 | g.154569816_154569817del | CA555971635 | FGB | c.1244+17_1244+18del (n.1244+17_1244+18del) n.939+509_939+510del c.587+17_587+18del (n.587+17_587+18del) c.1067+17_1067+18del (n.1067+17_1067+18del) c.1112+17_1112+18del (n.1112+17_1112+18del) c.944+17_944+18del (n.944+17_944+18del) c.1235+17_1235+18del (n.1235+17_1235+18del) c.*18+17_*18+18del (n.*18+17_*18+18del) c.1220+41_1220+42del (n.1220+41_1220+42del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569816T>C | CA789370188 | FGB | c.1244+17T>C (n.1244+17T>C) n.939+509T>C c.587+17T>C (n.587+17T>C) c.1067+17T>C (n.1067+17T>C) c.1112+17T>C (n.1112+17T>C) c.944+17T>C (n.944+17T>C) c.1235+17T>C (n.1235+17T>C) c.*18+17T>C (n.*18+17T>C) c.1220+41T>C (n.1220+41T>C) | dbSNP gnomAD v4 |
4 | g.154569816T= | CA1504935671 | FGB | c.1244+17T= (n.1244+17T=) n.939+509T= c.587+17T= (n.587+17T=) c.1067+17T= (n.1067+17T=) c.1112+17T= (n.1112+17T=) c.944+17T= (n.944+17T=) c.1235+17T= (n.1235+17T=) c.*18+17T= (n.*18+17T=) c.1220+41T= (n.1220+41T=) | |
4 | g.154569817T>C | CA3114750 | FGB | c.1244+18T>C (n.1244+18T>C) n.939+510T>C c.587+18T>C (n.587+18T>C) c.1067+18T>C (n.1067+18T>C) c.1112+18T>C (n.1112+18T>C) c.944+18T>C (n.944+18T>C) c.1235+18T>C (n.1235+18T>C) c.*18+18T>C (n.*18+18T>C) c.1220+42T>C (n.1220+42T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.154569817T>G | CA1069732066 | FGB | c.1244+18T>G (n.1244+18T>G) n.939+510T>G c.587+18T>G (n.587+18T>G) c.1067+18T>G (n.1067+18T>G) c.1112+18T>G (n.1112+18T>G) c.944+18T>G (n.944+18T>G) c.1235+18T>G (n.1235+18T>G) c.*18+18T>G (n.*18+18T>G) c.1220+42T>G (n.1220+42T>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.154569817T= | CA1504935672 | FGB | c.1244+18T= (n.1244+18T=) n.939+510T= c.587+18T= (n.587+18T=) c.1067+18T= (n.1067+18T=) c.1112+18T= (n.1112+18T=) c.944+18T= (n.944+18T=) c.1235+18T= (n.1235+18T=) c.*18+18T= (n.*18+18T=) c.1220+42T= (n.1220+42T=) | |
4 | g.154569819C>T | CA2672441755 | FGB | c.1244+20C>T (n.1244+20C>T) n.939+512C>T c.587+20C>T (n.587+20C>T) c.1067+20C>T (n.1067+20C>T) c.1112+20C>T (n.1112+20C>T) c.944+20C>T (n.944+20C>T) c.1235+20C>T (n.1235+20C>T) c.*18+20C>T (n.*18+20C>T) c.1220+44C>T (n.1220+44C>T) | dbSNP gnomAD v4 |
4 | g.154569820T>G | CA2672441757 | FGB | c.1244+21T>G (n.1244+21T>G) n.939+513T>G c.587+21T>G (n.587+21T>G) c.1067+21T>G (n.1067+21T>G) c.1112+21T>G (n.1112+21T>G) c.944+21T>G (n.944+21T>G) c.1235+21T>G (n.1235+21T>G) c.*18+21T>G (n.*18+21T>G) c.1220+45T>G (n.1220+45T>G) | gnomAD v4 |
4 | g.154569821C= | CA1504935673 | FGB | c.1244+22C= (n.1244+22C=) n.939+514C= c.587+22C= (n.587+22C=) c.1067+22C= (n.1067+22C=) c.1112+22C= (n.1112+22C=) c.944+22C= (n.944+22C=) c.1235+22C= (n.1235+22C=) c.*18+22C= (n.*18+22C=) c.1220+46C= (n.1220+46C=) | |
4 | g.154569821C>T | CA3114751 | FGB | c.1244+22C>T (n.1244+22C>T) n.939+514C>T c.587+22C>T (n.587+22C>T) c.1067+22C>T (n.1067+22C>T) c.1112+22C>T (n.1112+22C>T) c.944+22C>T (n.944+22C>T) c.1235+22C>T (n.1235+22C>T) c.*18+22C>T (n.*18+22C>T) c.1220+46C>T (n.1220+46C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.154569822C>A | CA2578217659 | FGB | c.1244+23C>A (n.1244+23C>A) n.939+515C>A c.587+23C>A (n.587+23C>A) c.1067+23C>A (n.1067+23C>A) c.1112+23C>A (n.1112+23C>A) c.944+23C>A (n.944+23C>A) c.1235+23C>A (n.1235+23C>A) c.*18+23C>A (n.*18+23C>A) c.1220+47C>A (n.1220+47C>A) | |
4 | g.154569822C>T | CA2672441760 | FGB | c.1244+23C>T (n.1244+23C>T) n.939+515C>T c.587+23C>T (n.587+23C>T) c.1067+23C>T (n.1067+23C>T) c.1112+23C>T (n.1112+23C>T) c.944+23C>T (n.944+23C>T) c.1235+23C>T (n.1235+23C>T) c.*18+23C>T (n.*18+23C>T) c.1220+47C>T (n.1220+47C>T) | gnomAD v4 |
4 | g.154569826T>C | CA2672441765 | FGB | c.1244+27T>C (n.1244+27T>C) n.939+519T>C c.587+27T>C (n.587+27T>C) c.1067+27T>C (n.1067+27T>C) c.1112+27T>C (n.1112+27T>C) c.944+27T>C (n.944+27T>C) c.1235+27T>C (n.1235+27T>C) c.*18+27T>C (n.*18+27T>C) c.1220+51T>C (n.1220+51T>C) | gnomAD v4 |