| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.154569602_154569603delinsAG | CA1504935320 | FGB | c.1047_1048delinsAG (p.Gly349=) n.939+295_939+296delinsAG c.390_391delinsAG (p.Gly130=) c.870_871delinsAG (p.Gly290=) c.915_916delinsAG (p.Gly305=) c.747_748delinsAG (p.Gly249=) c.1038_1039delinsAG (p.Gly346=) | |
| 4 | g.154569603del | CA555971632 | FGB | c.1048del (p.Asp350ThrfsTer3) n.939+296del c.391del (p.Asp131ThrfsTer3) c.871del (p.Asp291ThrfsTer3) c.916del (p.Asp306ThrfsTer3) c.748del (p.Asp250ThrfsTer3) c.1039del (p.Asp347ThrfsTer3) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.154569603G>A | CA358514911 | FGB | c.1048G>A (p.Asp350Asn) n.939+296G>A c.391G>A (p.Asp131Asn) c.871G>A (p.Asp291Asn) c.916G>A (p.Asp306Asn) c.748G>A (p.Asp250Asn) c.1039G>A (p.Asp347Asn) | dbSNP gnomAD v4 |
| 4 | g.154569603G>C | CA358514912 | FGB | c.1048G>C (p.Asp350His) n.939+296G>C c.391G>C (p.Asp131His) c.871G>C (p.Asp291His) c.916G>C (p.Asp306His) c.748G>C (p.Asp250His) c.1039G>C (p.Asp347His) | |
| 4 | g.154569603G= | CA1504935322 | FGB | c.1048G= (p.Asp350=) n.939+296G= c.391G= (p.Asp131=) c.871G= (p.Asp291=) c.916G= (p.Asp306=) c.748G= (p.Asp250=) c.1039G= (p.Asp347=) | |
| 4 | g.154569603G>T | CA358514913 | FGB | c.1048G>T (p.Asp350Tyr) n.939+296G>T c.391G>T (p.Asp131Tyr) c.871G>T (p.Asp291Tyr) c.916G>T (p.Asp306Tyr) c.748G>T (p.Asp250Tyr) c.1039G>T (p.Asp347Tyr) | |
| 4 | g.154569604A>C | CA358514915 | FGB | c.1049A>C (p.Asp350Ala) n.939+297A>C c.392A>C (p.Asp131Ala) c.872A>C (p.Asp291Ala) c.917A>C (p.Asp306Ala) c.749A>C (p.Asp250Ala) c.1040A>C (p.Asp347Ala) | |
| 4 | g.154569604A>G | CA358514916 | FGB | c.1049A>G (p.Asp350Gly) n.939+297A>G c.392A>G (p.Asp131Gly) c.872A>G (p.Asp291Gly) c.917A>G (p.Asp306Gly) c.749A>G (p.Asp250Gly) c.1040A>G (p.Asp347Gly) | gnomAD v4 |
| 4 | g.154569604A>T | CA358514918 | FGB | c.1049A>T (p.Asp350Val) n.939+297A>T c.392A>T (p.Asp131Val) c.872A>T (p.Asp291Val) c.917A>T (p.Asp306Val) c.749A>T (p.Asp250Val) c.1040A>T (p.Asp347Val) | |
| 4 | g.154569605C>A | CA358514920 | FGB | c.1050C>A (p.Asp350Glu) n.939+298C>A c.393C>A (p.Asp131Glu) c.873C>A (p.Asp291Glu) c.918C>A (p.Asp306Glu) c.750C>A (p.Asp250Glu) c.1041C>A (p.Asp347Glu) | dbSNP |
| 4 | g.154569605C= | CA1504935324 | FGB | c.1050C= (p.Asp350=) n.939+298C= c.393C= (p.Asp131=) c.873C= (p.Asp291=) c.918C= (p.Asp306=) c.750C= (p.Asp250=) c.1041C= (p.Asp347=) | |
| 4 | g.154569605C>G | CA358514921 | FGB | c.1050C>G (p.Asp350Glu) n.939+298C>G c.393C>G (p.Asp131Glu) c.873C>G (p.Asp291Glu) c.918C>G (p.Asp306Glu) c.750C>G (p.Asp250Glu) c.1041C>G (p.Asp347Glu) | |
| 4 | g.154569605C>T | CA3114709 | FGB | c.1050C>T (p.Asp350=) n.939+298C>T c.393C>T (p.Asp131=) c.873C>T (p.Asp291=) c.918C>T (p.Asp306=) c.750C>T (p.Asp250=) c.1041C>T (p.Asp347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154569605_154569610delinsCAAAGT | CA1504935326 | FGB | c.1050_1055delinsCAAAGT (p.Asp350=) n.939+298_939+303delinsCAAAGT c.393_398delinsCAAAGT (p.Asp131=) c.873_878delinsCAAAGT (p.Asp291=) c.918_923delinsCAAAGT (p.Asp306=) c.750_755delinsCAAAGT (p.Asp250=) c.1041_1046delinsCAAAGT (p.Asp347=) | |
| 4 | g.154569606A>C | CA358514923 | FGB | c.1051A>C (p.Lys351Gln) n.939+299A>C c.394A>C (p.Lys132Gln) c.874A>C (p.Lys292Gln) c.919A>C (p.Lys307Gln) c.751A>C (p.Lys251Gln) c.1042A>C (p.Lys348Gln) | |
| 4 | g.154569606A>G | CA358514924 | FGB | c.1051A>G (p.Lys351Glu) n.939+299A>G c.394A>G (p.Lys132Glu) c.874A>G (p.Lys292Glu) c.919A>G (p.Lys307Glu) c.751A>G (p.Lys251Glu) c.1042A>G (p.Lys348Glu) | gnomAD v4 |
| 4 | g.154569606A>T | CA358514922 | FGB | c.1051A>T (p.Lys351Ter) n.939+299A>T c.394A>T (p.Lys132Ter) c.874A>T (p.Lys292Ter) c.919A>T (p.Lys307Ter) c.751A>T (p.Lys251Ter) c.1042A>T (p.Lys348Ter) | |
| 4 | g.154569610_154569614del | CA3114708 | FGB | c.1055_1059del (p.Val352GlyfsTer11) n.939+303_939+307del c.398_402del (p.Val133GlyfsTer11) c.878_882del (p.Val293GlyfsTer11) c.923_927del (p.Val308GlyfsTer11) c.755_759del (p.Val252GlyfsTer11) c.1046_1050del (p.Val349GlyfsTer11) c.1055_1059del (p.Val352GlyfsTer18) | dbSNP ExAC gnomAD v2 |
| 4 | g.154569607A>C | CA358514926 | FGB | c.1052A>C (p.Lys351Thr) n.939+300A>C c.395A>C (p.Lys132Thr) c.875A>C (p.Lys292Thr) c.920A>C (p.Lys307Thr) c.752A>C (p.Lys251Thr) c.1043A>C (p.Lys348Thr) | |
| 4 | g.154569607A>G | CA358514928 | FGB | c.1052A>G (p.Lys351Arg) n.939+300A>G c.395A>G (p.Lys132Arg) c.875A>G (p.Lys292Arg) c.920A>G (p.Lys307Arg) c.752A>G (p.Lys251Arg) c.1043A>G (p.Lys348Arg) | |
| 4 | g.154569607A>T | CA358514930 | FGB | c.1052A>T (p.Lys351Ile) n.939+300A>T c.395A>T (p.Lys132Ile) c.875A>T (p.Lys292Ile) c.920A>T (p.Lys307Ile) c.752A>T (p.Lys251Ile) c.1043A>T (p.Lys348Ile) | |
| 4 | g.154569608A= | CA1504935329 | FGB | c.1053A= (p.Lys351=) n.939+301A= c.396A= (p.Lys132=) c.876A= (p.Lys292=) c.921A= (p.Lys307=) c.753A= (p.Lys251=) c.1044A= (p.Lys348=) | |
| 4 | g.154569608A>C | CA358514931 | FGB | c.1053A>C (p.Lys351Asn) n.939+301A>C c.396A>C (p.Lys132Asn) c.876A>C (p.Lys292Asn) c.921A>C (p.Lys307Asn) c.753A>C (p.Lys251Asn) c.1044A>C (p.Lys348Asn) | gnomAD v4 |
| 4 | g.154569608A>G | CA442013285 | FGB | c.1053A>G (p.Lys351=) n.939+301A>G c.396A>G (p.Lys132=) c.876A>G (p.Lys292=) c.921A>G (p.Lys307=) c.753A>G (p.Lys251=) c.1044A>G (p.Lys348=) | dbSNP |
| 4 | g.154569608A>T | CA358514932 | FGB | c.1053A>T (p.Lys351Asn) n.939+301A>T c.396A>T (p.Lys132Asn) c.876A>T (p.Lys292Asn) c.921A>T (p.Lys307Asn) c.753A>T (p.Lys251Asn) c.1044A>T (p.Lys348Asn) | |
| 4 | g.154569609G>A | CA358514935 | FGB | c.1054G>A (p.Val352Ile) n.939+302G>A c.397G>A (p.Val133Ile) c.877G>A (p.Val293Ile) c.922G>A (p.Val308Ile) c.754G>A (p.Val252Ile) c.1045G>A (p.Val349Ile) | |
| 4 | g.154569609G>C | CA358514937 | FGB | c.1054G>C (p.Val352Leu) n.939+302G>C c.397G>C (p.Val133Leu) c.877G>C (p.Val293Leu) c.922G>C (p.Val308Leu) c.754G>C (p.Val252Leu) c.1045G>C (p.Val349Leu) | |
| 4 | g.154569609G>T | CA358514938 | FGB | c.1054G>T (p.Val352Leu) n.939+302G>T c.397G>T (p.Val133Leu) c.877G>T (p.Val293Leu) c.922G>T (p.Val308Leu) c.754G>T (p.Val252Leu) c.1045G>T (p.Val349Leu) | |
| 4 | g.154569610T>A | CA358514940 | FGB | c.1055T>A (p.Val352Glu) n.939+303T>A c.398T>A (p.Val133Glu) c.878T>A (p.Val293Glu) c.923T>A (p.Val308Glu) c.755T>A (p.Val252Glu) c.1046T>A (p.Val349Glu) | |
| 4 | g.154569610T>C | CA358514942 | FGB | c.1055T>C (p.Val352Ala) n.939+303T>C c.398T>C (p.Val133Ala) c.878T>C (p.Val293Ala) c.923T>C (p.Val308Ala) c.755T>C (p.Val252Ala) c.1046T>C (p.Val349Ala) | |
| 4 | g.154569610T>G | CA358514943 | FGB | c.1055T>G (p.Val352Gly) n.939+303T>G c.398T>G (p.Val133Gly) c.878T>G (p.Val293Gly) c.923T>G (p.Val308Gly) c.755T>G (p.Val252Gly) c.1046T>G (p.Val349Gly) | |
| 4 | g.154569611A= | CA1504935331 | FGB | c.1056A= (p.Val352=) n.939+304A= c.399A= (p.Val133=) c.879A= (p.Val293=) c.924A= (p.Val308=) c.756A= (p.Val252=) c.1047A= (p.Val349=) | |
| 4 | g.154569611A>C | CA442013293 | FGB | c.1056A>C (p.Val352=) n.939+304A>C c.399A>C (p.Val133=) c.879A>C (p.Val293=) c.924A>C (p.Val308=) c.756A>C (p.Val252=) c.1047A>C (p.Val349=) | |
| 4 | g.154569611A>G | CA442013294 | FGB | c.1056A>G (p.Val352=) n.939+304A>G c.399A>G (p.Val133=) c.879A>G (p.Val293=) c.924A>G (p.Val308=) c.756A>G (p.Val252=) c.1047A>G (p.Val349=) | dbSNP |
| 4 | g.154569611A>T | CA442013295 | FGB | c.1056A>T (p.Val352=) n.939+304A>T c.399A>T (p.Val133=) c.879A>T (p.Val293=) c.924A>T (p.Val308=) c.756A>T (p.Val252=) c.1047A>T (p.Val349=) | |
| 4 | g.154569612A>C | CA358514947 | FGB | c.1057A>C (p.Lys353Gln) n.939+305A>C c.400A>C (p.Lys134Gln) c.880A>C (p.Lys294Gln) c.925A>C (p.Lys309Gln) c.757A>C (p.Lys253Gln) c.1048A>C (p.Lys350Gln) | |
| 4 | g.154569612A>G | CA358514948 | FGB | c.1057A>G (p.Lys353Glu) n.939+305A>G c.400A>G (p.Lys134Glu) c.880A>G (p.Lys294Glu) c.925A>G (p.Lys309Glu) c.757A>G (p.Lys253Glu) c.1048A>G (p.Lys350Glu) | |
| 4 | g.154569612A>T | CA358514945 | FGB | c.1057A>T (p.Lys353Ter) n.939+305A>T c.400A>T (p.Lys134Ter) c.880A>T (p.Lys294Ter) c.925A>T (p.Lys309Ter) c.757A>T (p.Lys253Ter) c.1048A>T (p.Lys350Ter) | |
| 4 | g.154569613A= | CA1504935334 | FGB | c.1058A= (p.Lys353=) n.939+306A= c.401A= (p.Lys134=) c.881A= (p.Lys294=) c.926A= (p.Lys309=) c.758A= (p.Lys253=) c.1049A= (p.Lys350=) | |
| 4 | g.154569613A>C | CA358514949 | FGB | c.1058A>C (p.Lys353Thr) n.939+306A>C c.401A>C (p.Lys134Thr) c.881A>C (p.Lys294Thr) c.926A>C (p.Lys309Thr) c.758A>C (p.Lys253Thr) c.1049A>C (p.Lys350Thr) | gnomAD v4 |
| 4 | g.154569613A>G | CA3114710 | FGB | c.1058A>G (p.Lys353Arg) n.939+306A>G c.401A>G (p.Lys134Arg) c.881A>G (p.Lys294Arg) c.926A>G (p.Lys309Arg) c.758A>G (p.Lys253Arg) c.1049A>G (p.Lys350Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154569613A>T | CA358514951 | FGB | c.1058A>T (p.Lys353Met) n.939+306A>T c.401A>T (p.Lys134Met) c.881A>T (p.Lys294Met) c.926A>T (p.Lys309Met) c.758A>T (p.Lys253Met) c.1049A>T (p.Lys350Met) | |
| 4 | g.154569614G>A | CA442013297 | FGB | c.1059G>A (p.Lys353=) n.939+307G>A c.402G>A (p.Lys134=) c.882G>A (p.Lys294=) c.927G>A (p.Lys309=) c.759G>A (p.Lys253=) c.1050G>A (p.Lys350=) | gnomAD v4 |
| 4 | g.154569614G>C | CA3114711 | FGB | c.1059G>C (p.Lys353Asn) n.939+307G>C c.402G>C (p.Lys134Asn) c.882G>C (p.Lys294Asn) c.927G>C (p.Lys309Asn) c.759G>C (p.Lys253Asn) c.1050G>C (p.Lys350Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.154569614G= | CA1504935336 | FGB | c.1059G= (p.Lys353=) n.939+307G= c.402G= (p.Lys134=) c.882G= (p.Lys294=) c.927G= (p.Lys309=) c.759G= (p.Lys253=) c.1050G= (p.Lys350=) | |
| 4 | g.154569614G>T | CA358514953 | FGB | c.1059G>T (p.Lys353Asn) n.939+307G>T c.402G>T (p.Lys134Asn) c.882G>T (p.Lys294Asn) c.927G>T (p.Lys309Asn) c.759G>T (p.Lys253Asn) c.1050G>T (p.Lys350Asn) | |
| 4 | g.154569615G>A | CA358514957 | FGB | c.1060G>A (p.Ala354Thr) n.939+308G>A c.403G>A (p.Ala135Thr) c.883G>A (p.Ala295Thr) c.928G>A (p.Ala310Thr) c.760G>A (p.Ala254Thr) c.1051G>A (p.Ala351Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.154569615G>C | CA358514954 | FGB | c.1060G>C (p.Ala354Pro) n.939+308G>C c.403G>C (p.Ala135Pro) c.883G>C (p.Ala295Pro) c.928G>C (p.Ala310Pro) c.760G>C (p.Ala254Pro) c.1051G>C (p.Ala351Pro) | gnomAD v4 |
| 4 | g.154569615G>T | CA358514955 | FGB | c.1060G>T (p.Ala354Ser) n.939+308G>T c.403G>T (p.Ala135Ser) c.883G>T (p.Ala295Ser) c.928G>T (p.Ala310Ser) c.760G>T (p.Ala254Ser) c.1051G>T (p.Ala351Ser) | |
| 4 | g.154569616C>A | CA358514959 | FGB | c.1061C>A (p.Ala354Asp) n.939+309C>A c.404C>A (p.Ala135Asp) c.884C>A (p.Ala295Asp) c.929C>A (p.Ala310Asp) c.761C>A (p.Ala254Asp) c.1052C>A (p.Ala351Asp) |