Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44351693C>A | CA500622073 | GRN | c.1077C>A (p.Ala359=) c.518C>A c.606C>A (p.Ala202=) n.335C>A | |
17 | g.44351693C>G | CA500622075 | GRN | c.1077C>G (p.Ala359=) c.518C>G c.606C>G (p.Ala202=) n.335C>G | |
17 | g.44351693C>T | CA500622076 | GRN | c.1077C>T (p.Ala359=) c.518C>T c.606C>T (p.Ala202=) n.335C>T | |
17 | g.44351694T>A | CA399765743 | GRN | c.1078T>A (p.Leu360Met) c.519T>A c.607T>A (p.Leu203Met) n.336T>A | |
17 | g.44351694T>C | CA8602097 | GRN | c.1078T>C (p.Leu360=) c.519T>C c.607T>C (p.Leu203=) n.336T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44351694T>G | CA399765749 | GRN | c.1078T>G (p.Leu360Val) c.519T>G c.607T>G (p.Leu203Val) n.336T>G | gnomAD v4 |
17 | g.44351694T= | CA2261354278 | GRN | c.1078T= (p.Leu360=) c.519T= c.607T= (p.Leu203=) n.336T= | |
17 | g.44351695T>A | CA399765753 | GRN | c.1079T>A (p.Leu360Ter) c.520T>A c.608T>A (p.Leu203Ter) n.337T>A | |
17 | g.44351695T>C | CA399765756 | GRN | c.1079T>C (p.Leu360Ser) c.520T>C c.608T>C (p.Leu203Ser) n.337T>C | |
17 | g.44351695T>G | CA399765759 | GRN | c.1079T>G (p.Leu360Trp) c.520T>G c.608T>G (p.Leu203Trp) n.337T>G | |
17 | g.44351696G>A | CA500622077 | GRN | c.1080G>A (p.Leu360=) c.521G>A c.609G>A (p.Leu203=) n.338G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44351696G>C | CA399765765 | GRN | c.1080G>C (p.Leu360Phe) c.521G>C c.609G>C (p.Leu203Phe) n.338G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.44351696G= | CA2261354279 | GRN | c.1080G= (p.Leu360=) c.521G= c.609G= (p.Leu203=) n.338G= | |
17 | g.44351696G>T | CA399765770 | GRN | c.1080G>T (p.Leu360Phe) c.521G>T c.609G>T (p.Leu203Phe) n.338G>T | |
17 | g.44351697A= | CA2261354281 | GRN | c.1081A= (p.Lys361=) c.522A= c.610A= (p.Lys204=) n.339A= | |
17 | g.44351697A>C | CA399765773 | GRN | c.1081A>C (p.Lys361Gln) c.522A>C c.610A>C (p.Lys204Gln) n.339A>C | |
17 | g.44351697A>G | CA399765775 | GRN | c.1081A>G (p.Lys361Glu) c.522A>G c.610A>G (p.Lys204Glu) n.339A>G | dbSNP |
17 | g.44351697A>T | CA399765778 | GRN | c.1081A>T (p.Lys361Ter) c.522A>T c.610A>T (p.Lys204Ter) n.339A>T | |
17 | g.44351697_44351699delinsAAG | CA2261354280 | GRN | c.1081_1083delinsAAG (p.Lys361=) c.522_524delinsAAG c.610_612delinsAAG (p.Lys204=) n.339_341delinsAAG | |
17 | g.44351698A>C | CA399765791 | GRN | c.1082A>C (p.Lys361Thr) c.523A>C c.611A>C (p.Lys204Thr) n.340A>C | |
17 | g.44351698A>G | CA399765786 | GRN | c.1082A>G (p.Lys361Arg) c.523A>G c.611A>G (p.Lys204Arg) n.340A>G | gnomAD v4 |
17 | g.44351698A>T | CA399765784 | GRN | c.1082A>T (p.Lys361Met) c.523A>T c.611A>T (p.Lys204Met) n.340A>T | |
17 | g.44351703_44351704del | CA913191166 | GRN | c.1087_1088del (p.Asp363CysfsTer4) c.528_529del c.616_617del (p.Asp206CysfsTer4) n.345_346del | ClinVar dbSNP gnomAD v4 |
17 | g.44351699G>A | CA500622078 | GRN | c.1083G>A (p.Lys361=) c.524G>A c.612G>A (p.Lys204=) n.341G>A | |
17 | g.44351699G>C | CA399765796 | GRN | c.1083G>C (p.Lys361Asn) c.524G>C c.612G>C (p.Lys204Asn) n.341G>C | gnomAD v4 |
17 | g.44351699G= | CA2261354282 | GRN | c.1083G= (p.Lys361=) c.524G= c.612G= (p.Lys204=) n.341G= | |
17 | g.44351699G>T | CA399765800 | GRN | c.1083G>T (p.Lys361Asn) c.524G>T c.612G>T (p.Lys204Asn) n.341G>T | dbSNP |
17 | g.44351700A>C | CA500622079 | GRN | c.1084A>C (p.Arg362=) c.525A>C c.613A>C (p.Arg205=) n.342A>C | |
17 | g.44351700A>G | CA399765806 | GRN | c.1084A>G (p.Arg362Gly) c.525A>G c.613A>G (p.Arg205Gly) n.342A>G | |
17 | g.44351700A>T | CA399765808 | GRN | c.1084A>T (p.Arg362Ter) c.525A>T c.613A>T (p.Arg205Ter) n.342A>T | |
17 | g.44351701G>A | CA399765813 | GRN | c.1085G>A (p.Arg362Lys) c.526G>A c.614G>A (p.Arg205Lys) n.343G>A | |
17 | g.44351701G>C | CA399765817 | GRN | c.1085G>C (p.Arg362Thr) c.526G>C c.614G>C (p.Arg205Thr) n.343G>C | |
17 | g.44351701G>T | CA399765820 | GRN | c.1085G>T (p.Arg362Ile) c.526G>T c.614G>T (p.Arg205Ile) n.343G>T | |
17 | g.44351702A= | CA2261354283 | GRN | c.1086A= (p.Arg362=) c.527A= c.615A= (p.Arg205=) n.344A= | |
17 | g.44351702A>C | CA399765824 | GRN | c.1086A>C (p.Arg362Ser) c.527A>C c.615A>C (p.Arg205Ser) n.344A>C | dbSNP |
17 | g.44351702A>G | CA500622080 | GRN | c.1086A>G (p.Arg362=) c.527A>G c.615A>G (p.Arg205=) n.344A>G | gnomAD v4 |
17 | g.44351702A>T | CA399765828 | GRN | c.1086A>T (p.Arg362Ser) c.527A>T c.615A>T (p.Arg205Ser) n.344A>T | |
17 | g.44351704_44351728del | CA2576290524 | GRN | c.1088_1112del (p.Asp363AlafsTer?) c.529_553del c.617_641del (p.Asp206AlafsTer?) n.346_370del | |
17 | g.44351703G>A | CA399765835 | GRN | c.1087G>A (p.Asp363Asn) c.528G>A c.616G>A (p.Asp206Asn) n.345G>A | |
17 | g.44351703G>C | CA399765839 | GRN | c.1087G>C (p.Asp363His) c.528G>C c.616G>C (p.Asp206His) n.345G>C | |
17 | g.44351703G>T | CA399765843 | GRN | c.1087G>T (p.Asp363Tyr) c.528G>T c.616G>T (p.Asp206Tyr) n.345G>T | |
17 | g.44351704A>C | CA399765855 | GRN | c.1088A>C (p.Asp363Ala) c.529A>C c.617A>C (p.Asp206Ala) n.346A>C | |
17 | g.44351704A>G | CA399765851 | GRN | c.1088A>G (p.Asp363Gly) c.529A>G c.617A>G (p.Asp206Gly) n.346A>G | gnomAD v4 |
17 | g.44351704A>T | CA399765847 | GRN | c.1088A>T (p.Asp363Val) c.529A>T c.617A>T (p.Asp206Val) n.346A>T | |
17 | g.44351705T>A | CA399765858 | GRN | c.1089T>A (p.Asp363Glu) c.530T>A c.618T>A (p.Asp206Glu) n.347T>A | |
17 | g.44351705T>C | CA500622082 | GRN | c.1089T>C (p.Asp363=) c.530T>C c.618T>C (p.Asp206=) n.347T>C | dbSNP gnomAD v4 |
17 | g.44351705T>G | CA399765871 | GRN | c.1089T>G (p.Asp363Glu) c.530T>G c.618T>G (p.Asp206Glu) n.347T>G | |
17 | g.44351705T= | CA2261354284 | GRN | c.1089T= (p.Asp363=) c.530T= c.618T= (p.Asp206=) n.347T= | |
17 | g.44351706G>A | CA399765874 | GRN | c.1090G>A (p.Val364Ile) c.531G>A c.619G>A (p.Val207Ile) n.348G>A | |
17 | g.44351706G>C | CA399765876 | GRN | c.1090G>C (p.Val364Leu) c.531G>C c.619G>C (p.Val207Leu) n.348G>C | |
17 | g.44351706G>T | CA399765881 | GRN | c.1090G>T (p.Val364Phe) c.531G>T c.619G>T (p.Val207Phe) n.348G>T | |
17 | g.44351707T>A | CA399765885 | GRN | c.1091T>A (p.Val364Asp) c.532T>A c.620T>A (p.Val207Asp) n.349T>A | |
17 | g.44351707T>C | CA399765888 | GRN | c.1091T>C (p.Val364Ala) c.532T>C c.620T>C (p.Val207Ala) n.349T>C | |
17 | g.44351707T>G | CA399765892 | GRN | c.1091T>G (p.Val364Gly) c.532T>G c.620T>G (p.Val207Gly) n.349T>G | |
17 | g.44351708C>A | CA500622085 | GRN | c.1092C>A (p.Val364=) c.533C>A c.621C>A (p.Val207=) n.350C>A | |
17 | g.44351708C= | CA2261354285 | GRN | c.1092C= (p.Val364=) c.533C= c.621C= (p.Val207=) n.350C= | |
17 | g.44351708C>G | CA500622087 | GRN | c.1092C>G (p.Val364=) c.533C>G c.621C>G (p.Val207=) n.350C>G | |
17 | g.44351708C>T | CA8602098 | GRN | c.1092C>T (p.Val364=) c.533C>T c.621C>T (p.Val207=) n.350C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351709C>A | CA399765901 | GRN | c.1093C>A (p.Pro365Thr) c.534C>A c.622C>A (p.Pro208Thr) n.351C>A | |
17 | g.44351709C>G | CA399765908 | GRN | c.1093C>G (p.Pro365Ala) c.534C>G c.622C>G (p.Pro208Ala) n.351C>G | |
17 | g.44351709C>T | CA399765910 | GRN | c.1093C>T (p.Pro365Ser) c.534C>T c.622C>T (p.Pro208Ser) n.351C>T | |
17 | g.44351710C>A | CA399765917 | GRN | c.1094C>A (p.Pro365His) c.535C>A c.623C>A (p.Pro208His) n.352C>A | |
17 | g.44351710C>G | CA399765914 | GRN | c.1094C>G (p.Pro365Arg) c.535C>G c.623C>G (p.Pro208Arg) n.352C>G | |
17 | g.44351710C>T | CA399765912 | GRN | c.1094C>T (p.Pro365Leu) c.535C>T c.623C>T (p.Pro208Leu) n.352C>T | |
17 | g.44351710_44351712delinsCCT | CA2261354286 | GRN | c.1094_1096delinsCCT (p.Pro365=) c.535_537delinsCCT c.623_625delinsCCT (p.Pro208=) n.352_354delinsCCT | |
17 | g.44351711C>A | CA500622088 | GRN | c.1095C>A (p.Pro365=) c.536C>A c.624C>A (p.Pro208=) n.353C>A | |
17 | g.44351711C>G | CA500622089 | GRN | c.1095C>G (p.Pro365=) c.536C>G c.624C>G (p.Pro208=) n.353C>G | |
17 | g.44351711C>T | CA500622090 | GRN | c.1095C>T (p.Pro365=) c.536C>T c.624C>T (p.Pro208=) n.353C>T | gnomAD v4 |
17 | g.44351711_44351712del | CA225523 | GRN | c.1095_1096del (p.Cys366Ter) c.536_537del c.624_625del (p.Cys209Ter) n.353_354del | ClinVar dbSNP gnomAD v4 |
17 | g.44351712T>A | CA399765927 | GRN | c.1096T>A (p.Cys366Ser) c.537T>A c.625T>A (p.Cys209Ser) n.354T>A | |
17 | g.44351712T>C | CA399765930 | GRN | c.1096T>C (p.Cys366Arg) c.537T>C c.625T>C (p.Cys209Arg) n.354T>C | |
17 | g.44351712T>G | CA399765933 | GRN | c.1096T>G (p.Cys366Gly) c.537T>G c.625T>G (p.Cys209Gly) n.354T>G | |
17 | g.44351713G>A | CA290926425 | GRN | c.1097G>A (p.Cys366Tyr) c.538G>A c.626G>A (p.Cys209Tyr) n.355G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.44351713G>C | CA399765943 | GRN | c.1097G>C (p.Cys366Ser) c.538G>C c.626G>C (p.Cys209Ser) n.355G>C | |
17 | g.44351713G= | CA2261354287 | GRN | c.1097G= (p.Cys366=) c.538G= c.626G= (p.Cys209=) n.355G= | |
17 | g.44351713G>T | CA399765946 | GRN | c.1097G>T (p.Cys366Phe) c.538G>T c.626G>T (p.Cys209Phe) n.355G>T | gnomAD v4 |
17 | g.44351714T>A | CA399765950 | GRN | c.1098T>A (p.Cys366Ter) c.539T>A c.627T>A (p.Cys209Ter) n.356T>A | |
17 | g.44351714T>C | CA500622091 | GRN | c.1098T>C (p.Cys366=) c.539T>C c.627T>C (p.Cys209=) n.356T>C | |
17 | g.44351714T>G | CA399765956 | GRN | c.1098T>G (p.Cys366Trp) c.539T>G c.627T>G (p.Cys209Trp) n.356T>G | |
17 | g.44351715G>A | CA399765960 | GRN | c.1099G>A (p.Asp367Asn) c.540G>A c.628G>A (p.Asp210Asn) n.357G>A | |
17 | g.44351715G>C | CA399765963 | GRN | c.1099G>C (p.Asp367His) c.540G>C c.628G>C (p.Asp210His) n.357G>C | gnomAD v4 |
17 | g.44351715G>T | CA399765966 | GRN | c.1099G>T (p.Asp367Tyr) c.540G>T c.628G>T (p.Asp210Tyr) n.357G>T | |
17 | g.44351715_44351718delinsGATA | CA2261354288 | GRN | c.1099_1102delinsGATA (p.Asp367=) c.540_543delinsGATA c.628_631delinsGATA (p.Asp210=) n.357_360delinsGATA | |
17 | g.44351716A= | CA2261354289 | GRN | c.1100A= (p.Asp367=) c.541A= c.629A= (p.Asp210=) n.358A= | |
17 | g.44351716A>C | CA399765975 | GRN | c.1100A>C (p.Asp367Ala) c.541A>C c.629A>C (p.Asp210Ala) n.358A>C | |
17 | g.44351716A>G | CA399765971 | GRN | c.1100A>G (p.Asp367Gly) c.541A>G c.629A>G (p.Asp210Gly) n.358A>G | |
17 | g.44351716A>T | CA8602099 | GRN | c.1100A>T (p.Asp367Val) c.541A>T c.629A>T (p.Asp210Val) n.358A>T | dbSNP ExAC gnomAD v2 |
17 | g.44351718_44351720del | CA626224175 | GRN | c.1102_1104del (p.Asn368del) c.543_545del c.631_633del (p.Asn211del) n.360_362del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.44351717T>A | CA399765978 | GRN | c.1101T>A (p.Asp367Glu) c.542T>A c.630T>A (p.Asp210Glu) n.359T>A | |
17 | g.44351717T>C | CA8602100 | GRN | c.1101T>C (p.Asp367=) c.542T>C c.630T>C (p.Asp210=) n.359T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44351717T>G | CA399765981 | GRN | c.1101T>G (p.Asp367Glu) c.542T>G c.630T>G (p.Asp210Glu) n.359T>G | |
17 | g.44351717T= | CA2261354290 | GRN | c.1101T= (p.Asp367=) c.542T= c.630T= (p.Asp210=) n.359T= | |
17 | g.44351718A= | CA2261354291 | GRN | c.1102A= (p.Asn368=) c.543A= c.631A= (p.Asn211=) n.360A= | |
17 | g.44351718A>C | CA399765987 | GRN | c.1102A>C (p.Asn368His) c.543A>C c.631A>C (p.Asn211His) n.360A>C | |
17 | g.44351718A>G | CA399765991 | GRN | c.1102A>G (p.Asn368Asp) c.543A>G c.631A>G (p.Asn211Asp) n.360A>G | dbSNP |
17 | g.44351718A>T | CA399765994 | GRN | c.1102A>T (p.Asn368Tyr) c.543A>T c.631A>T (p.Asn211Tyr) n.360A>T | |
17 | g.44351719A= | CA2261354292 | GRN | c.1103A= (p.Asn368=) c.544A= c.632A= (p.Asn211=) n.361A= | |
17 | g.44351719A>C | CA399765997 | GRN | c.1103A>C (p.Asn368Thr) c.544A>C c.632A>C (p.Asn211Thr) n.361A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44351719A>G | CA399766000 | GRN | c.1103A>G (p.Asn368Ser) c.544A>G c.632A>G (p.Asn211Ser) n.361A>G | |
17 | g.44351719A>T | CA399766003 | GRN | c.1103A>T (p.Asn368Ile) c.544A>T c.632A>T (p.Asn211Ile) n.361A>T | |
17 | g.44351720T>A | CA399766008 | GRN | c.1104T>A (p.Asn368Lys) c.545T>A c.633T>A (p.Asn211Lys) n.362T>A | |
17 | g.44351720T>C | CA500622095 | GRN | c.1104T>C (p.Asn368=) c.545T>C c.633T>C (p.Asn211=) n.362T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44351720T>G | CA399766007 | GRN | c.1104T>G (p.Asn368Lys) c.545T>G c.633T>G (p.Asn211Lys) n.362T>G | |
17 | g.44351720T= | CA2261354293 | GRN | c.1104T= (p.Asn368=) c.545T= c.633T= (p.Asn211=) n.362T= | |
17 | g.44351721G>A | CA399766012 | GRN | c.1105G>A (p.Val369Ile) c.546G>A c.634G>A (p.Val212Ile) n.363G>A | gnomAD v4 |
17 | g.44351721G>C | CA399766015 | GRN | c.1105G>C (p.Val369Leu) c.546G>C c.634G>C (p.Val212Leu) n.363G>C | |
17 | g.44351721G= | CA2261354294 | GRN | c.1105G= (p.Val369=) c.546G= c.634G= (p.Val212=) n.363G= | |
17 | g.44351721G>T | CA399766017 | GRN | c.1105G>T (p.Val369Phe) c.546G>T c.634G>T (p.Val212Phe) n.363G>T | dbSNP gnomAD v2 |
17 | g.44351722T>A | CA399766021 | GRN | c.1106T>A (p.Val369Asp) c.547T>A c.635T>A (p.Val212Asp) n.364T>A | |
17 | g.44351722T>C | CA399766024 | GRN | c.1106T>C (p.Val369Ala) c.547T>C c.635T>C (p.Val212Ala) n.364T>C | |
17 | g.44351722T>G | CA399766026 | GRN | c.1106T>G (p.Val369Gly) c.547T>G c.635T>G (p.Val212Gly) n.364T>G | |
17 | g.44351723C>A | CA500622099 | GRN | c.1107C>A (p.Val369=) c.548C>A c.636C>A (p.Val212=) n.365C>A | |
17 | g.44351723C>G | CA500622097 | GRN | c.1107C>G (p.Val369=) c.548C>G c.636C>G (p.Val212=) n.365C>G | |
17 | g.44351723C>T | CA500622098 | GRN | c.1107C>T (p.Val369=) c.548C>T c.636C>T (p.Val212=) n.365C>T | |
17 | g.44351724A= | CA2261354295 | GRN | c.1108A= (p.Ser370=) c.549A= c.637A= (p.Ser213=) n.366A= | |
17 | g.44351724A>C | CA399766029 | GRN | c.1108A>C (p.Ser370Arg) c.549A>C c.637A>C (p.Ser213Arg) n.366A>C | |
17 | g.44351724A>G | CA399766031 | GRN | c.1108A>G (p.Ser370Gly) c.549A>G c.637A>G (p.Ser213Gly) n.366A>G | |
17 | g.44351724A>T | CA399766030 | GRN | c.1108A>T (p.Ser370Cys) c.549A>T c.637A>T (p.Ser213Cys) n.366A>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44351725G>A | CA399766032 | GRN | c.1109G>A (p.Ser370Asn) c.550G>A c.638G>A (p.Ser213Asn) n.367G>A | |
17 | g.44351725G>C | CA399766033 | GRN | c.1109G>C (p.Ser370Thr) c.550G>C c.638G>C (p.Ser213Thr) n.367G>C | |
17 | g.44351725G>T | CA399766034 | GRN | c.1109G>T (p.Ser370Ile) c.550G>T c.638G>T (p.Ser213Ile) n.367G>T | |
17 | g.44351726C>A | CA399766036 | GRN | c.1110C>A (p.Ser370Arg) c.551C>A c.639C>A (p.Ser213Arg) n.368C>A | |
17 | g.44351726C>G | CA399766038 | GRN | c.1110C>G (p.Ser370Arg) c.551C>G c.639C>G (p.Ser213Arg) n.368C>G | |
17 | g.44351726C>T | CA500622100 | GRN | c.1110C>T (p.Ser370=) c.551C>T c.639C>T (p.Ser213=) n.368C>T | COSMIC |
17 | g.44351727A>C | CA399766041 | GRN | c.1111A>C (p.Ser371Arg) c.552A>C c.640A>C (p.Ser214Arg) n.369A>C | |
17 | g.44351727A>G | CA399766044 | GRN | c.1111A>G (p.Ser371Gly) c.552A>G c.640A>G (p.Ser214Gly) n.369A>G | |
17 | g.44351727A>T | CA399766045 | GRN | c.1111A>T (p.Ser371Cys) c.552A>T c.640A>T (p.Ser214Cys) n.369A>T | |
17 | g.44351727_44351729delinsAGC | CA2261354296 | GRN | c.1111_1113delinsAGC (p.Ser371=) c.552_554delinsAGC c.640_642delinsAGC (p.Ser214=) n.369_371delinsAGC | |
17 | g.44351728G>A | CA399766046 | GRN | c.1112G>A (p.Ser371Asn) c.553G>A c.641G>A (p.Ser214Asn) n.370G>A | gnomAD v4 |
17 | g.44351728G>C | CA8602101 | GRN | c.1112G>C (p.Ser371Thr) c.553G>C c.641G>C (p.Ser214Thr) n.370G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351728G= | CA2261354297 | GRN | c.1112G= (p.Ser371=) c.553G= c.641G= (p.Ser214=) n.370G= | |
17 | g.44351728G>T | CA399766050 | GRN | c.1112G>T (p.Ser371Ile) c.553G>T c.641G>T (p.Ser214Ile) n.370G>T | |
17 | g.44351728_44351729del | CA626224176 | GRN | c.1112_1113del (p.Ser371MetfsTer?) c.1112_1113del (p.Ser371MetfsTer28) c.553_554del c.641_642del (p.Ser214MetfsTer?) n.370_371del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351729C>A | CA399766053 | GRN | c.1113C>A (p.Ser371Arg) c.554C>A c.642C>A (p.Ser214Arg) n.371C>A | |
17 | g.44351729C>G | CA399766055 | GRN | c.1113C>G (p.Ser371Arg) c.554C>G c.642C>G (p.Ser214Arg) n.371C>G | |
17 | g.44351729C>T | CA500622101 | GRN | c.1113C>T (p.Ser371=) c.554C>T c.642C>T (p.Ser214=) n.371C>T | |
17 | g.44351730T>A | CA399766058 | GRN | c.1114T>A (p.Cys372Ser) c.555T>A c.643T>A (p.Cys215Ser) n.372T>A | |
17 | g.44351730T>C | CA399766060 | GRN | c.1114T>C (p.Cys372Arg) c.555T>C c.643T>C (p.Cys215Arg) n.372T>C | |
17 | g.44351730T>G | CA399766072 | GRN | c.1114T>G (p.Cys372Gly) c.555T>G c.643T>G (p.Cys215Gly) n.372T>G | |
17 | g.44351730_44351731delinsTG | CA2261354298 | GRN | c.1114_1115delinsTG (p.Cys372=) c.555_556delinsTG c.643_644delinsTG (p.Cys215=) n.372_373delinsTG | |
17 | g.44351731del | CA626224177 | GRN | c.1115del (p.Cys372PhefsTer?) c.556del c.644del (p.Cys215PhefsTer?) n.373del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351731G>A | CA399766078 | GRN | c.1115G>A (p.Cys372Tyr) c.556G>A c.644G>A (p.Cys215Tyr) n.373G>A | COSMIC |
17 | g.44351731G>C | CA399766081 | GRN | c.1115G>C (p.Cys372Ser) c.556G>C c.644G>C (p.Cys215Ser) n.373G>C | |
17 | g.44351731G>T | CA399766084 | GRN | c.1115G>T (p.Cys372Phe) c.556G>T c.644G>T (p.Cys215Phe) n.373G>T | |
17 | g.44351732T>A | CA399766088 | GRN | c.1116T>A (p.Cys372Ter) c.557T>A c.645T>A (p.Cys215Ter) n.374T>A | |
17 | g.44351732T>C | CA500622102 | GRN | c.1116T>C (p.Cys372=) c.557T>C c.645T>C (p.Cys215=) n.374T>C | dbSNP |
17 | g.44351732T>G | CA399766091 | GRN | c.1116T>G (p.Cys372Trp) c.557T>G c.645T>G (p.Cys215Trp) n.374T>G | |
17 | g.44351732T= | CA2261354300 | GRN | c.1116T= (p.Cys372=) c.557T= c.645T= (p.Cys215=) n.374T= | |
17 | g.44351732_44351742delinsTCCCTCCTCCG | CA2261354299 | GRN | c.1116_1126delinsTCCCTCCTCCG (p.Cys372=) c.557_567delinsTCCCTCCTCCG c.645_655delinsTCCCTCCTCCG (p.Cys215=) n.374_384delinsTCCCTCCTCCG | |
17 | g.44351733C>A | CA8602102 | GRN | c.1117C>A (p.Pro373Thr) c.558C>A c.646C>A (p.Pro216Thr) n.375C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44351733C= | CA2261354301 | GRN | c.1117C= (p.Pro373=) c.558C= c.646C= (p.Pro216=) n.375C= | |
17 | g.44351733C>G | CA399766101 | GRN | c.1117C>G (p.Pro373Ala) c.558C>G c.646C>G (p.Pro216Ala) n.375C>G | |
17 | g.44351733C>T | CA290926429 | GRN | c.1117C>T (p.Pro373Ser) c.558C>T c.646C>T (p.Pro216Ser) n.375C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351733_44351736delinsCCCT | CA2261354302 | GRN | c.1117_1120delinsCCCT (p.Pro373=) c.558_561delinsCCCT c.646_649delinsCCCT (p.Pro216=) n.375_378delinsCCCT | |
17 | g.44351733_44351742del | CA626224178 | GRN | c.1117_1126del (p.Pro373IlefsTer?) c.558_567del c.646_655del (p.Pro216IlefsTer?) n.375_384del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351734C>A | CA399766110 | GRN | c.1118C>A (p.Pro373His) c.559C>A c.647C>A (p.Pro216His) n.376C>A | |
17 | g.44351734C>G | CA399766112 | GRN | c.1118C>G (p.Pro373Arg) c.559C>G c.647C>G (p.Pro216Arg) n.376C>G | |
17 | g.44351734C>T | CA399766116 | GRN | c.1118C>T (p.Pro373Leu) c.559C>T c.647C>T (p.Pro216Leu) n.376C>T | |
17 | g.44351734_44351735delinsG | CA2695226231 | GRN | c.1118_1119delinsG (p.Pro373ArgfsTer?) c.559_560delinsG c.647_648delinsG (p.Pro216ArgfsTer?) n.376_377delinsG | |
17 | g.44351739_44351741del | CA8602103 | GRN | c.1123_1125del (p.Ser375del) c.564_566del c.652_654del (p.Ser218del) n.381_383del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351735C>A | CA500622103 | GRN | c.1119C>A (p.Pro373=) c.560C>A c.648C>A (p.Pro216=) n.377C>A | |
17 | g.44351735C= | CA2261354303 | GRN | c.1119C= (p.Pro373=) c.560C= c.648C= (p.Pro216=) n.377C= | |
17 | g.44351735C>G | CA500622104 | GRN | c.1119C>G (p.Pro373=) c.560C>G c.648C>G (p.Pro216=) n.377C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44351735C>T | CA500622105 | GRN | c.1119C>T (p.Pro373=) c.560C>T c.648C>T (p.Pro216=) n.377C>T | |
17 | g.44351736T>A | CA399766128 | GRN | c.1120T>A (p.Ser374Thr) c.561T>A c.649T>A (p.Ser217Thr) n.378T>A | |
17 | g.44351736T>C | CA399766134 | GRN | c.1120T>C (p.Ser374Pro) c.561T>C c.649T>C (p.Ser217Pro) n.378T>C | |
17 | g.44351736T>G | CA399766131 | GRN | c.1120T>G (p.Ser374Ala) c.561T>G c.649T>G (p.Ser217Ala) n.378T>G | gnomAD v4 |
17 | g.44351737C>A | CA399766138 | GRN | c.1121C>A (p.Ser374Tyr) c.562C>A c.650C>A (p.Ser217Tyr) n.379C>A | |
17 | g.44351737C>G | CA399766141 | GRN | c.1121C>G (p.Ser374Cys) c.562C>G c.650C>G (p.Ser217Cys) n.379C>G | |
17 | g.44351737C>T | CA399766145 | GRN | c.1121C>T (p.Ser374Phe) c.562C>T c.650C>T (p.Ser217Phe) n.379C>T | |
17 | g.44351738C>A | CA500622106 | GRN | c.1122C>A (p.Ser374=) c.563C>A c.651C>A (p.Ser217=) n.380C>A | |
17 | g.44351738C>G | CA500622107 | GRN | c.1122C>G (p.Ser374=) c.563C>G c.651C>G (p.Ser217=) n.380C>G | |
17 | g.44351738C>T | CA500622108 | GRN | c.1122C>T (p.Ser374=) c.563C>T c.651C>T (p.Ser217=) n.380C>T | |
17 | g.44351739T>A | CA399766149 | GRN | c.1123T>A (p.Ser375Thr) c.564T>A c.652T>A (p.Ser218Thr) n.381T>A | |
17 | g.44351739T>C | CA399766153 | GRN | c.1123T>C (p.Ser375Pro) c.564T>C c.652T>C (p.Ser218Pro) n.381T>C | |
17 | g.44351739T>G | CA399766157 | GRN | c.1123T>G (p.Ser375Ala) c.564T>G c.652T>G (p.Ser218Ala) n.381T>G | |
17 | g.44351740C>A | CA399766161 | GRN | c.1124C>A (p.Ser375Tyr) c.565C>A c.653C>A (p.Ser218Tyr) n.382C>A | dbSNP gnomAD v4 |
17 | g.44351740C= | CA2261354304 | GRN | c.1124C= (p.Ser375=) c.565C= c.653C= (p.Ser218=) n.382C= | |
17 | g.44351740C>G | CA399766163 | GRN | c.1124C>G (p.Ser375Cys) c.565C>G c.653C>G (p.Ser218Cys) n.382C>G | ClinVar |
17 | g.44351740C>T | CA399766168 | GRN | c.1124C>T (p.Ser375Phe) c.565C>T c.653C>T (p.Ser218Phe) n.382C>T | |
17 | g.44351741C>A | CA500622109 | GRN | c.1125C>A (p.Ser375=) c.566C>A c.654C>A (p.Ser218=) n.383C>A | |
17 | g.44351741C= | CA2261354305 | GRN | c.1125C= (p.Ser375=) c.566C= c.654C= (p.Ser218=) n.383C= | |
17 | g.44351741C>G | CA500622110 | GRN | c.1125C>G (p.Ser375=) c.566C>G c.654C>G (p.Ser218=) n.383C>G | |
17 | g.44351741C>T | CA8602104 | GRN | c.1125C>T (p.Ser375=) c.566C>T c.654C>T (p.Ser218=) n.383C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351742G>A | CA8602105 | GRN | c.1126G>A (p.Asp376Asn) c.567G>A c.655G>A (p.Asp219Asn) n.384G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351742G>C | CA399766182 | GRN | c.1126G>C (p.Asp376His) c.567G>C c.655G>C (p.Asp219His) n.384G>C | |
17 | g.44351742G= | CA2261354306 | GRN | c.1126G= (p.Asp376=) c.567G= c.655G= (p.Asp219=) n.384G= | |
17 | g.44351742G>T | CA399766179 | GRN | c.1126G>T (p.Asp376Tyr) c.567G>T c.655G>T (p.Asp219Tyr) n.384G>T | |
17 | g.44351743A>C | CA399766190 | GRN | c.1127A>C (p.Asp376Ala) c.568A>C c.656A>C (p.Asp219Ala) n.385A>C | |
17 | g.44351743A>G | CA399766197 | GRN | c.1127A>G (p.Asp376Gly) c.568A>G c.656A>G (p.Asp219Gly) n.385A>G | |
17 | g.44351743A>T | CA399766193 | GRN | c.1127A>T (p.Asp376Val) c.568A>T c.656A>T (p.Asp219Val) n.385A>T | |
17 | g.44351744T>A | CA399766206 | GRN | c.1128T>A (p.Asp376Glu) c.569T>A c.657T>A (p.Asp219Glu) n.386T>A | |
17 | g.44351744T>C | CA500622117 | GRN | c.1128T>C (p.Asp376=) c.569T>C c.657T>C (p.Asp219=) n.386T>C | |
17 | g.44351744T>G | CA399766208 | GRN | c.1128T>G (p.Asp376Glu) c.569T>G c.657T>G (p.Asp219Glu) n.386T>G | |
17 | g.44351744_44351753delinsTACCTGCTGC | CA2261354307 | GRN | c.1128_1137delinsTACCTGCTGC (p.Asp376=) c.1128_1136+1delinsTACCTGCTGC c.569_578delinsTACCTGCTGC c.657_666delinsTACCTGCTGC (p.Asp219=) n.386_395delinsTACCTGCTGC | |
17 | g.44351745A= | CA2261354308 | GRN | c.1129A= (p.Thr377=) c.570A= c.658A= (p.Thr220=) n.387A= | |
17 | g.44351745A>C | CA399766211 | GRN | c.1129A>C (p.Thr377Pro) c.570A>C c.658A>C (p.Thr220Pro) n.387A>C | dbSNP |
17 | g.44351745A>G | CA399766215 | GRN | c.1129A>G (p.Thr377Ala) c.570A>G c.658A>G (p.Thr220Ala) n.387A>G | |
17 | g.44351745A>T | CA399766232 | GRN | c.1129A>T (p.Thr377Ser) c.570A>T c.658A>T (p.Thr220Ser) n.387A>T | |
17 | g.44351745_44351753del | CA626224179 | GRN | c.1129_1137del (p.Thr377_Cys379del) c.1129_1136+1del c.570_578del c.658_666del (p.Thr220_Cys222del) n.387_395del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351746C>A | CA290926436 | GRN | c.1130C>A (p.Thr377Asn) c.571C>A c.659C>A (p.Thr220Asn) n.388C>A | dbSNP gnomAD v4 |
17 | g.44351746C= | CA2261354309 | GRN | c.1130C= (p.Thr377=) c.571C= c.659C= (p.Thr220=) n.388C= | |
17 | g.44351746C>G | CA399766244 | GRN | c.1130C>G (p.Thr377Ser) c.571C>G c.659C>G (p.Thr220Ser) n.388C>G | |
17 | g.44351746C>T | CA399766246 | GRN | c.1130C>T (p.Thr377Ile) c.571C>T c.659C>T (p.Thr220Ile) n.388C>T | |
17 | g.44351746_44351747insA | CA2809588844 | GRN | c.1130_1131insA (p.Cys378LeufsTer?) c.1130_1131insA (p.Cys378LeufsTer22) c.571_572insA c.659_660insA (p.Cys221LeufsTer?) n.388_389insA | |
17 | g.44351747C>A | CA500622119 | GRN | c.1131C>A (p.Thr377=) c.572C>A c.660C>A (p.Thr220=) n.389C>A | gnomAD v4 |
17 | g.44351747C= | CA2261354310 | GRN | c.1131C= (p.Thr377=) c.572C= c.660C= (p.Thr220=) n.389C= | |
17 | g.44351747C>G | CA290926438 | GRN | c.1131C>G (p.Thr377=) c.572C>G c.660C>G (p.Thr220=) n.389C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44351747C>T | CA500622118 | GRN | c.1131C>T (p.Thr377=) c.572C>T c.660C>T (p.Thr220=) n.389C>T | gnomAD v4 |
17 | g.44351748T>A | CA399766254 | GRN | c.1132T>A (p.Cys378Ser) c.573T>A c.661T>A (p.Cys221Ser) n.390T>A | |
17 | g.44351748T>C | CA399766258 | GRN | c.1132T>C (p.Cys378Arg) c.573T>C c.661T>C (p.Cys221Arg) n.390T>C | dbSNP gnomAD v4 |
17 | g.44351748T>G | CA399766263 | GRN | c.1132T>G (p.Cys378Gly) c.573T>G c.661T>G (p.Cys221Gly) n.390T>G | |
17 | g.44351748T= | CA2261354311 | GRN | c.1132T= (p.Cys378=) c.573T= c.661T= (p.Cys221=) n.390T= | |
17 | g.44351749G>A | CA399766274 | GRN | c.1133G>A (p.Cys378Tyr) c.574G>A c.662G>A (p.Cys221Tyr) n.391G>A | COSMIC |
17 | g.44351749G>C | CA399766272 | GRN | c.1133G>C (p.Cys378Ser) c.574G>C c.662G>C (p.Cys221Ser) n.391G>C | gnomAD v4 |
17 | g.44351749G>T | CA399766268 | GRN | c.1133G>T (p.Cys378Phe) c.574G>T c.662G>T (p.Cys221Phe) n.391G>T | |
17 | g.44351750C>A | CA399766279 | GRN | c.1134C>A (p.Cys378Ter) c.575C>A c.663C>A (p.Cys221Ter) n.392C>A | |
17 | g.44351750C= | CA2261354312 | GRN | c.1134C= (p.Cys378=) c.575C= c.663C= (p.Cys221=) n.392C= | |
17 | g.44351750C>G | CA399766282 | GRN | c.1134C>G (p.Cys378Trp) c.575C>G c.663C>G (p.Cys221Trp) n.392C>G | |
17 | g.44351750C>T | CA8602106 | GRN | c.1134C>T (p.Cys378=) c.575C>T c.663C>T (p.Cys221=) n.392C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44351751T>A | CA399766294 | GRN | c.1135T>A (p.Cys379Ser) c.576T>A c.664T>A (p.Cys222Ser) n.393T>A | |
17 | g.44351751T>C | CA399766296 | GRN | c.1135T>C (p.Cys379Arg) c.576T>C c.664T>C (p.Cys222Arg) n.393T>C | |
17 | g.44351751T>G | CA399766299 | GRN | c.1135T>G (p.Cys379Gly) c.576T>G c.664T>G (p.Cys222Gly) n.393T>G | |
17 | g.44351752G>A | CA399766304 | GRN | c.1136G>A (p.Cys379Tyr) c.577G>A c.665G>A (p.Cys222Tyr) n.394G>A | gnomAD v4 |
17 | g.44351752G>C | CA399766308 | GRN | c.1136G>C (p.Cys379Ser) c.577G>C c.665G>C (p.Cys222Ser) n.394G>C | |
17 | g.44351752G>T | CA399766311 | GRN | c.1136G>T (p.Cys379Phe) c.577G>T c.665G>T (p.Cys222Phe) n.394G>T | |
17 | g.44351753C>A | CA399766316 | GRN | c.1137C>A (p.Cys379Ter) c.1136+1C>A (n.1136+1C>A) c.578C>A c.666C>A (p.Cys222Ter) n.395C>A | COSMIC |
17 | g.44351753C>G | CA399766323 | GRN | c.1137C>G (p.Cys379Trp) c.1136+1C>G (n.1136+1C>G) c.578C>G c.666C>G (p.Cys222Trp) n.395C>G | |
17 | g.44351753C>T | CA500622126 | GRN | c.1137C>T (p.Cys379=) c.1136+1C>T (n.1136+1C>T) c.578C>T c.666C>T (p.Cys222=) n.395C>T | |
17 | g.44351754C>A | CA399766334 | GRN | c.1138C>A (p.Gln380Lys) c.1136+2C>A (n.1136+2C>A) c.579C>A c.667C>A (p.Gln223Lys) n.396C>A | |
17 | g.44351754C= | CA2261354313 | GRN | c.1138C= (p.Gln380=) c.1136+2C= (n.1136+2C=) c.579C= c.667C= (p.Gln223=) n.396C= | |
17 | g.44351754C>G | CA8602107 | GRN | c.1138C>G (p.Gln380Glu) c.1136+2C>G (n.1136+2C>G) c.579C>G c.667C>G (p.Gln223Glu) n.396C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351754C>T | CA399766328 | GRN | c.1138C>T (p.Gln380Ter) c.1136+2C>T (n.1136+2C>T) c.579C>T c.667C>T (p.Gln223Ter) n.396C>T | |
17 | g.44351755A= | CA2261354315 | GRN | c.1139A= (p.Gln380=) c.1136+3A= (n.1136+3A=) c.580A= c.668A= (p.Gln223=) n.397A= | |
17 | g.44351755A>C | CA399766339 | GRN | c.1139A>C (p.Gln380Pro) c.1136+3A>C (n.1136+3A>C) c.580A>C c.668A>C (p.Gln223Pro) n.397A>C | dbSNP |
17 | g.44351755A>G | CA399766343 | GRN | c.1139A>G (p.Gln380Arg) c.1136+3A>G (n.1136+3A>G) c.580A>G c.668A>G (p.Gln223Arg) n.397A>G | |
17 | g.44351755A>T | CA399766346 | GRN | c.1139A>T (p.Gln380Leu) c.1136+3A>T (n.1136+3A>T) c.580A>T c.668A>T (p.Gln223Leu) n.397A>T | |
17 | g.44351755_44351758delinsAACT | CA2261354314 | GRN | c.1139_1142delinsAACT (p.Gln380=) c.1136+3_1136+6delinsAACT (n.1136+3_1136+6delinsAACT) c.580_583delinsAACT c.668_671delinsAACT (p.Gln223=) n.397_400delinsAACT | |
17 | g.44351756A= | CA2261354316 | GRN | c.1140A= (p.Gln380=) c.1136+4A= (n.1136+4A=) c.581A= c.669A= (p.Gln223=) n.398A= | |
17 | g.44351756A>C | CA399766349 | GRN | c.1140A>C (p.Gln380His) c.1136+4A>C (n.1136+4A>C) c.581A>C c.669A>C (p.Gln223His) n.398A>C | |
17 | g.44351756A>G | CA290926443 | GRN | c.1140A>G (p.Gln380=) c.1136+4A>G (n.1136+4A>G) c.581A>G c.669A>G (p.Gln223=) n.398A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44351756A>T | CA399766351 | GRN | c.1140A>T (p.Gln380His) c.1136+4A>T (n.1136+4A>T) c.581A>T c.669A>T (p.Gln223His) n.398A>T | |
17 | g.44351756_44351758del | CA626224180 | GRN | c.1140_1142del (p.Gln380_Leu381delinsHis) c.1136+4_1136+6del (n.1136+4_1136+6del) c.581_583del c.669_671del (p.Gln223_Leu224delinsHis) n.398_400del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351757C>A | CA399766365 | GRN | c.1141C>A (p.Leu381Ile) c.1136+5C>A (n.1136+5C>A) c.582C>A c.670C>A (p.Leu224Ile) n.399C>A | gnomAD v4 |
17 | g.44351757C>G | CA399766361 | GRN | c.1141C>G (p.Leu381Val) c.1136+5C>G (n.1136+5C>G) c.582C>G c.670C>G (p.Leu224Val) n.399C>G | |
17 | g.44351757C>T | CA399766357 | GRN | c.1141C>T (p.Leu381Phe) c.1136+5C>T (n.1136+5C>T) c.582C>T c.670C>T (p.Leu224Phe) n.399C>T | |
17 | g.44351758T>A | CA399766369 | GRN | c.1142T>A (p.Leu381His) c.1136+6T>A (n.1136+6T>A) c.583T>A c.671T>A (p.Leu224His) n.400T>A | |
17 | g.44351758T>C | CA399766376 | GRN | c.1142T>C (p.Leu381Pro) c.1136+6T>C (n.1136+6T>C) c.583T>C c.671T>C (p.Leu224Pro) n.400T>C | |
17 | g.44351758T>G | CA399766378 | GRN | c.1142T>G (p.Leu381Arg) c.1136+6T>G (n.1136+6T>G) c.583T>G c.671T>G (p.Leu224Arg) n.400T>G | |
17 | g.44351759C>A | CA500622131 | GRN | c.1143C>A (p.Leu381=) c.1136+7C>A (n.1136+7C>A) c.584C>A c.672C>A (p.Leu224=) n.401C>A | |
17 | g.44351759C= | CA2261354317 | GRN | c.1143C= (p.Leu381=) c.1136+7C= (n.1136+7C=) c.584C= c.672C= (p.Leu224=) n.401C= | |
17 | g.44351759C>G | CA500622132 | GRN | c.1143C>G (p.Leu381=) c.1136+7C>G (n.1136+7C>G) c.584C>G c.672C>G (p.Leu224=) n.401C>G | gnomAD v4 |
17 | g.44351759C>T | CA500622133 | GRN | c.1143C>T (p.Leu381=) c.1136+7C>T (n.1136+7C>T) c.584C>T c.672C>T (p.Leu224=) n.401C>T | gnomAD v4 |
17 | g.44351760A>C | CA399766382 | GRN | c.1144A>C (p.Thr382Pro) c.1136+8A>C (n.1136+8A>C) c.585A>C c.673A>C (p.Thr225Pro) n.402A>C | |
17 | g.44351760A>G | CA399766385 | GRN | c.1144A>G (p.Thr382Ala) c.1136+8A>G (n.1136+8A>G) c.585A>G c.673A>G (p.Thr225Ala) n.402A>G | |
17 | g.44351760A>T | CA399766388 | GRN | c.1144A>T (p.Thr382Ser) c.1136+8A>T (n.1136+8A>T) c.585A>T c.673A>T (p.Thr225Ser) n.402A>T | |
17 | g.44351760dup | CA225311 | GRN | c.1144dup (p.Thr382AsnfsTer?) c.1136+8dup (n.1136+8dup) c.585dup c.673dup (p.Thr225AsnfsTer?) n.402dup | ClinVar dbSNP |
17 | g.44351760_44351761delinsAC | CA2261354318 | GRN | c.1144_1145delinsAC (p.Thr382=) c.1136+8_1136+9delinsAC (n.1136+8_1136+9delinsAC) c.585_586delinsAC c.673_674delinsAC (p.Thr225=) n.402_403delinsAC | |
17 | g.44351761del | CA225312 | GRN | c.1145del (p.Thr382SerfsTer30) c.1136+9del (n.1136+9del) c.586del c.674del (p.Thr225SerfsTer30) n.403del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351761C>A | CA399766393 | GRN | c.1145C>A (p.Thr382Lys) c.1136+9C>A (n.1136+9C>A) c.586C>A c.674C>A (p.Thr225Lys) n.403C>A | |
17 | g.44351761C= | CA2261354319 | GRN | c.1145C= (p.Thr382=) c.1136+9C= (n.1136+9C=) c.586C= c.674C= (p.Thr225=) n.403C= | |
17 | g.44351761C>G | CA399766406 | GRN | c.1145C>G (p.Thr382Arg) c.1136+9C>G (n.1136+9C>G) c.586C>G c.674C>G (p.Thr225Arg) n.403C>G | gnomAD v4 |
17 | g.44351761C>T | CA8602108 | GRN | c.1145C>T (p.Thr382Met) c.1136+9C>T (n.1136+9C>T) c.586C>T c.674C>T (p.Thr225Met) n.403C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351761_44351762insA | CA2695226232 | GRN | c.1145_1146insA (p.Ser383ValfsTer?) c.1136+9_1136+10insA (n.1136+9_1136+10insA) c.586_587insA c.674_675insA (p.Ser226ValfsTer?) n.403_404insA | |
17 | g.44351762G>A | CA8602109 | GRN | c.1146G>A (p.Thr382=) c.1136+10G>A (n.1136+10G>A) c.587G>A c.675G>A (p.Thr225=) n.404G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351762G>C | CA500622136 | GRN | c.1146G>C (p.Thr382=) c.1136+10G>C (n.1136+10G>C) c.587G>C c.675G>C (p.Thr225=) n.404G>C | |
17 | g.44351762G= | CA2261354320 | GRN | c.1146G= (p.Thr382=) c.1136+10G= (n.1136+10G=) c.587G= c.675G= (p.Thr225=) n.404G= | |
17 | g.44351762G>T | CA500622137 | GRN | c.1146G>T (p.Thr382=) c.1136+10G>T (n.1136+10G>T) c.587G>T c.675G>T (p.Thr225=) n.404G>T | COSMIC |
17 | g.44351763T>A | CA399766416 | GRN | c.1147T>A (p.Ser383Thr) c.1136+11T>A (n.1136+11T>A) c.588T>A c.676T>A (p.Ser226Thr) n.405T>A | |
17 | g.44351763T>C | CA399766418 | GRN | c.1147T>C (p.Ser383Pro) c.1136+11T>C (n.1136+11T>C) c.588T>C c.676T>C (p.Ser226Pro) n.405T>C | |
17 | g.44351763T>G | CA399766421 | GRN | c.1147T>G (p.Ser383Ala) c.1136+11T>G (n.1136+11T>G) c.588T>G c.676T>G (p.Ser226Ala) n.405T>G | |
17 | g.44351764C>A | CA399766427 | GRN | c.1148C>A (p.Ser383Tyr) c.1136+12C>A (n.1136+12C>A) c.589C>A c.677C>A (p.Ser226Tyr) n.406C>A | |
17 | g.44351764C= | CA2261354321 | GRN | c.1148C= (p.Ser383=) c.1136+12C= (n.1136+12C=) c.589C= c.677C= (p.Ser226=) n.406C= | |
17 | g.44351764C>G | CA8602111 | GRN | c.1148C>G (p.Ser383Cys) c.1136+12C>G (n.1136+12C>G) c.589C>G c.677C>G (p.Ser226Cys) n.406C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44351764C>T | CA8602110 | GRN | c.1148C>T (p.Ser383Phe) c.1136+12C>T (n.1136+12C>T) c.589C>T c.677C>T (p.Ser226Phe) n.406C>T | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
17 | g.44351765T>A | CA500622141 | GRN | c.1149T>A (p.Ser383=) c.1136+13T>A (n.1136+13T>A) c.590T>A c.678T>A (p.Ser226=) n.407T>A | ClinVar |
17 | g.44351765T>C | CA500622142 | GRN | c.1149T>C (p.Ser383=) c.1136+13T>C (n.1136+13T>C) c.590T>C c.678T>C (p.Ser226=) n.407T>C | |
17 | g.44351765T>G | CA500622143 | GRN | c.1149T>G (p.Ser383=) c.1136+13T>G (n.1136+13T>G) c.590T>G c.678T>G (p.Ser226=) n.407T>G | |
17 | g.44351766G>A | CA399766439 | GRN | c.1150G>A (p.Gly384Arg) c.1136+14G>A (n.1136+14G>A) c.591G>A c.679G>A (p.Gly227Arg) n.408G>A | |
17 | g.44351766G>C | CA399766442 | GRN | c.1150G>C (p.Gly384Arg) c.1136+14G>C (n.1136+14G>C) c.591G>C c.679G>C (p.Gly227Arg) n.408G>C | |
17 | g.44351766G>T | CA399766445 | GRN | c.1150G>T (p.Gly384Trp) c.1136+14G>T (n.1136+14G>T) c.591G>T c.679G>T (p.Gly227Trp) n.408G>T | |
17 | g.44351769dup | CA2638209897 | GRN | c.1153dup (p.Glu385GlyfsTer29) c.1136+17dup (n.1136+17dup) c.594dup c.682dup (p.Glu228GlyfsTer29) n.411dup | gnomAD v4 |
17 | g.44351769del | CA2573153932 | GRN | c.1153del (p.Glu385SerfsTer27) c.1136+17del (n.1136+17del) c.594del c.682del (p.Glu228SerfsTer27) n.411del | ClinVar dbSNP |
17 | g.44351767G>A | CA399766456 | GRN | c.1151G>A (p.Gly384Glu) c.1136+15G>A (n.1136+15G>A) c.592G>A c.680G>A (p.Gly227Glu) n.409G>A | |
17 | g.44351767G>C | CA399766455 | GRN | c.1151G>C (p.Gly384Ala) c.1136+15G>C (n.1136+15G>C) c.592G>C c.680G>C (p.Gly227Ala) n.409G>C | |
17 | g.44351767G>T | CA399766450 | GRN | c.1151G>T (p.Gly384Val) c.1136+15G>T (n.1136+15G>T) c.592G>T c.680G>T (p.Gly227Val) n.409G>T | |
17 | g.44351768G>A | CA500622144 | GRN | c.1152G>A (p.Gly384=) c.1136+16G>A (n.1136+16G>A) c.593G>A c.681G>A (p.Gly227=) n.410G>A | ClinVar |
17 | g.44351768G>C | CA500622147 | GRN | c.1152G>C (p.Gly384=) c.1136+16G>C (n.1136+16G>C) c.593G>C c.681G>C (p.Gly227=) n.410G>C | |
17 | g.44351768G>T | CA500622145 | GRN | c.1152G>T (p.Gly384=) c.1136+16G>T (n.1136+16G>T) c.593G>T c.681G>T (p.Gly227=) n.410G>T | ClinVar dbSNP |
17 | g.44351768_44351792delinsGGAGTGGGGCTGCTGTCCAATCCCA | CA2261354322 | GRN | c.1152_1176delinsGGAGTGGGGCTGCTGTCCAATCCCA (p.Gly384=) c.1136+16_1136+40delinsGGAGTGGGGCTGCTGTCCAATCCCA (n.1136+16_1136+40delinsGGAGTGGGGCTGCTGTCCAATCCCA) c.593_617delinsGGAGTGGGGCTGCTGTCCAATCCCA c.681_705delinsGGAGTGGGGCTGCTGTCCAATCCCA (p.Gly227=) n.410_434delinsGGAGTGGGGCTGCTGTCCAATCCCA | |
17 | g.44351769G>A | CA399766463 | GRN | c.1153G>A (p.Glu385Lys) c.1136+17G>A (n.1136+17G>A) c.594G>A c.682G>A (p.Glu228Lys) n.411G>A | |
17 | g.44351769G>C | CA399766461 | GRN | c.1153G>C (p.Glu385Gln) c.1136+17G>C (n.1136+17G>C) c.594G>C c.682G>C (p.Glu228Gln) n.411G>C | |
17 | g.44351769G>T | CA399766469 | GRN | c.1153G>T (p.Glu385Ter) c.1136+17G>T (n.1136+17G>T) c.594G>T c.682G>T (p.Glu228Ter) n.411G>T | ClinVar |
17 | g.44351772_44351795del | CA8602112 | GRN | c.1156_1179del (p.Trp386_Glu393del) c.1136+20_1136+43del (n.1136+20_1136+43del) c.597_620del c.685_708del (p.Trp229_Glu236del) n.414_437del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44351770A>C | CA399766473 | GRN | c.1154A>C (p.Glu385Ala) c.1136+18A>C (n.1136+18A>C) c.595A>C c.683A>C (p.Glu228Ala) n.412A>C | |
17 | g.44351770A>G | CA399766478 | GRN | c.1154A>G (p.Glu385Gly) c.1136+18A>G (n.1136+18A>G) c.595A>G c.683A>G (p.Glu228Gly) n.412A>G | |
17 | g.44351770A>T | CA399766476 | GRN | c.1154A>T (p.Glu385Val) c.1136+18A>T (n.1136+18A>T) c.595A>T c.683A>T (p.Glu228Val) n.412A>T | gnomAD v4 |
17 | g.44351771G>A | CA500622148 | GRN | c.1155G>A (p.Glu385=) c.1136+19G>A (n.1136+19G>A) c.596G>A c.684G>A (p.Glu228=) n.413G>A | gnomAD v4 |
17 | g.44351771G>C | CA399766481 | GRN | c.1155G>C (p.Glu385Asp) c.1136+19G>C (n.1136+19G>C) c.596G>C c.684G>C (p.Glu228Asp) n.413G>C | |
17 | g.44351771G>T | CA399766483 | GRN | c.1155G>T (p.Glu385Asp) c.1136+19G>T (n.1136+19G>T) c.596G>T c.684G>T (p.Glu228Asp) n.413G>T | |
17 | g.44351772T>A | CA399766488 | GRN | c.1156T>A (p.Trp386Arg) c.1136+20T>A (n.1136+20T>A) c.597T>A c.685T>A (p.Trp229Arg) n.414T>A | |
17 | g.44351772T>C | CA399766490 | GRN | c.1156T>C (p.Trp386Arg) c.1136+20T>C (n.1136+20T>C) c.597T>C c.685T>C (p.Trp229Arg) n.414T>C | |
17 | g.44351772T>G | CA399766492 | GRN | c.1156T>G (p.Trp386Gly) c.1136+20T>G (n.1136+20T>G) c.597T>G c.685T>G (p.Trp229Gly) n.414T>G | dbSNP |
17 | g.44351772T= | CA2261354323 | GRN | c.1156T= (p.Trp386=) c.1136+20T= (n.1136+20T=) c.597T= c.685T= (p.Trp229=) n.414T= | |
17 | g.44351773G>A | CA225313 | GRN | c.1157G>A (p.Trp386Ter) c.1136+21G>A (n.1136+21G>A) c.598G>A c.686G>A (p.Trp229Ter) n.415G>A | ClinVar dbSNP |
17 | g.44351773G>C | CA399766499 | GRN | c.1157G>C (p.Trp386Ser) c.1136+21G>C (n.1136+21G>C) c.598G>C c.686G>C (p.Trp229Ser) n.415G>C | dbSNP gnomAD v4 |
17 | g.44351773G= | CA2261354324 | GRN | c.1157G= (p.Trp386=) c.1136+21G= (n.1136+21G=) c.598G= c.686G= (p.Trp229=) n.415G= | |
17 | g.44351773G>T | CA399766496 | GRN | c.1157G>T (p.Trp386Leu) c.1136+21G>T (n.1136+21G>T) c.598G>T c.686G>T (p.Trp229Leu) n.415G>T | |
17 | g.44351776dup | CA2695226233 | GRN | c.1160dup (p.Cys388LeufsTer26) c.1136+24dup (n.1136+24dup) c.601dup c.689dup (p.Cys231LeufsTer26) n.418dup | |
17 | g.44351776del | CA2638209899 | GRN | c.1160del (p.Gly387AlafsTer25) c.1136+24del (n.1136+24del) c.601del c.689del (p.Gly230AlafsTer25) n.418del | gnomAD v4 |
17 | g.44351774G>A | CA399766505 | GRN | c.1158G>A (p.Trp386Ter) c.1136+22G>A (n.1136+22G>A) c.599G>A c.687G>A (p.Trp229Ter) n.416G>A | ClinVar |
17 | g.44351774G>C | CA399766507 | GRN | c.1158G>C (p.Trp386Cys) c.1136+22G>C (n.1136+22G>C) c.599G>C c.687G>C (p.Trp229Cys) n.416G>C | |
17 | g.44351774G= | CA2261354325 | GRN | c.1158G= (p.Trp386=) c.1136+22G= (n.1136+22G=) c.599G= c.687G= (p.Trp229=) n.416G= | |
17 | g.44351774G>T | CA399766510 | GRN | c.1158G>T (p.Trp386Cys) c.1136+22G>T (n.1136+22G>T) c.599G>T c.687G>T (p.Trp229Cys) n.416G>T | dbSNP gnomAD v4 |
17 | g.44351775G>A | CA399766515 | GRN | c.1159G>A (p.Gly387Ser) c.1136+23G>A (n.1136+23G>A) c.600G>A c.688G>A (p.Gly230Ser) n.417G>A | |
17 | g.44351775G>C | CA399766516 | GRN | c.1159G>C (p.Gly387Arg) c.1136+23G>C (n.1136+23G>C) c.600G>C c.688G>C (p.Gly230Arg) n.417G>C | |
17 | g.44351775G>T | CA399766518 | GRN | c.1159G>T (p.Gly387Cys) c.1136+23G>T (n.1136+23G>T) c.600G>T c.688G>T (p.Gly230Cys) n.417G>T | |
17 | g.44351776G>A | CA399766522 | GRN | c.1160G>A (p.Gly387Asp) c.1136+24G>A (n.1136+24G>A) c.601G>A c.689G>A (p.Gly230Asp) n.418G>A | |
17 | g.44351776G>C | CA399766527 | GRN | c.1160G>C (p.Gly387Ala) c.1136+24G>C (n.1136+24G>C) c.601G>C c.689G>C (p.Gly230Ala) n.418G>C | |
17 | g.44351776G= | CA2261354326 | GRN | c.1160G= (p.Gly387=) c.1136+24G= (n.1136+24G=) c.601G= c.689G= (p.Gly230=) n.418G= | |
17 | g.44351776G>T | CA8602113 | GRN | c.1160G>T (p.Gly387Val) c.1136+24G>T (n.1136+24G>T) c.601G>T c.689G>T (p.Gly230Val) n.418G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351777C>A | CA500622154 | GRN | c.1161C>A (p.Gly387=) c.1136+25C>A (n.1136+25C>A) c.602C>A c.690C>A (p.Gly230=) n.419C>A | |
17 | g.44351777C= | CA2261354327 | GRN | c.1161C= (p.Gly387=) c.1136+25C= (n.1136+25C=) c.602C= c.690C= (p.Gly230=) n.419C= | |
17 | g.44351777C>G | CA500622155 | GRN | c.1161C>G (p.Gly387=) c.1136+25C>G (n.1136+25C>G) c.602C>G c.690C>G (p.Gly230=) n.419C>G | |
17 | g.44351777C>T | CA500622156 | GRN | c.1161C>T (p.Gly387=) c.1136+25C>T (n.1136+25C>T) c.602C>T c.690C>T (p.Gly230=) n.419C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44351778T>A | CA399766531 | GRN | c.1162T>A (p.Cys388Ser) c.1136+26T>A (n.1136+26T>A) c.603T>A c.691T>A (p.Cys231Ser) n.420T>A | |
17 | g.44351778T>C | CA399766534 | GRN | c.1162T>C (p.Cys388Arg) c.1136+26T>C (n.1136+26T>C) c.603T>C c.691T>C (p.Cys231Arg) n.420T>C | |
17 | g.44351778T>G | CA399766536 | GRN | c.1162T>G (p.Cys388Gly) c.1136+26T>G (n.1136+26T>G) c.603T>G c.691T>G (p.Cys231Gly) n.420T>G | |
17 | g.44351779G>A | CA399766539 | GRN | c.1163G>A (p.Cys388Tyr) c.1136+27G>A (n.1136+27G>A) c.604G>A c.692G>A (p.Cys231Tyr) n.421G>A | dbSNP gnomAD v2 COSMIC |
17 | g.44351779G>C | CA399766542 | GRN | c.1163G>C (p.Cys388Ser) c.1136+27G>C (n.1136+27G>C) c.604G>C c.692G>C (p.Cys231Ser) n.421G>C | |
17 | g.44351779G= | CA2261354328 | GRN | c.1163G= (p.Cys388=) c.1136+27G= (n.1136+27G=) c.604G= c.692G= (p.Cys231=) n.421G= | |
17 | g.44351779G>T | CA399766543 | GRN | c.1163G>T (p.Cys388Phe) c.1136+27G>T (n.1136+27G>T) c.604G>T c.692G>T (p.Cys231Phe) n.421G>T | |
17 | g.44351780C>A | CA399766544 | GRN | c.1164C>A (p.Cys388Ter) c.1136+28C>A (n.1136+28C>A) c.605C>A c.693C>A (p.Cys231Ter) n.422C>A | |
17 | g.44351780C= | CA2261354329 | GRN | c.1164C= (p.Cys388=) c.1136+28C= (n.1136+28C=) c.605C= c.693C= (p.Cys231=) n.422C= | |
17 | g.44351780C>G | CA399766545 | GRN | c.1164C>G (p.Cys388Trp) c.1136+28C>G (n.1136+28C>G) c.605C>G c.693C>G (p.Cys231Trp) n.422C>G | |
17 | g.44351780C>T | CA500622158 | GRN | c.1164C>T (p.Cys388=) c.1136+28C>T (n.1136+28C>T) c.605C>T c.693C>T (p.Cys231=) n.422C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44351781del | CA2695226234 | GRN | c.1165del (p.Cys389ValfsTer23) c.1136+29del (n.1136+29del) c.606del c.694del (p.Cys232ValfsTer23) n.423del | |
17 | g.44351781T>A | CA399766546 | GRN | c.1165T>A (p.Cys389Ser) c.1136+29T>A (n.1136+29T>A) c.606T>A c.694T>A (p.Cys232Ser) n.423T>A | |
17 | g.44351781T>C | CA399766547 | GRN | c.1165T>C (p.Cys389Arg) c.1136+29T>C (n.1136+29T>C) c.606T>C c.694T>C (p.Cys232Arg) n.423T>C | |
17 | g.44351781T>G | CA399766548 | GRN | c.1165T>G (p.Cys389Gly) c.1136+29T>G (n.1136+29T>G) c.606T>G c.694T>G (p.Cys232Gly) n.423T>G | |
17 | g.44351782G>A | CA399766550 | GRN | c.1166G>A (p.Cys389Tyr) c.1136+30G>A (n.1136+30G>A) c.607G>A c.695G>A (p.Cys232Tyr) n.424G>A | gnomAD v4 |
17 | g.44351782G>C | CA399766556 | GRN | c.1166G>C (p.Cys389Ser) c.1136+30G>C (n.1136+30G>C) c.607G>C c.695G>C (p.Cys232Ser) n.424G>C | |
17 | g.44351782G>T | CA399766554 | GRN | c.1166G>T (p.Cys389Phe) c.1136+30G>T (n.1136+30G>T) c.607G>T c.695G>T (p.Cys232Phe) n.424G>T | |
17 | g.44351783T>A | CA399766559 | GRN | c.1167T>A (p.Cys389Ter) c.1136+31T>A (n.1136+31T>A) c.608T>A c.696T>A (p.Cys232Ter) n.425T>A | |
17 | g.44351783T>C | CA500622161 | GRN | c.1167T>C (p.Cys389=) c.1136+31T>C (n.1136+31T>C) c.608T>C c.696T>C (p.Cys232=) n.425T>C | gnomAD v4 |
17 | g.44351783T>G | CA399766561 | GRN | c.1167T>G (p.Cys389Trp) c.1136+31T>G (n.1136+31T>G) c.608T>G c.696T>G (p.Cys232Trp) n.425T>G | |
17 | g.44351784C>A | CA399766565 | GRN | c.1168C>A (p.Pro390Thr) c.1136+32C>A (n.1136+32C>A) c.609C>A c.697C>A (p.Pro233Thr) n.426C>A | |
17 | g.44351784C>G | CA399766567 | GRN | c.1168C>G (p.Pro390Ala) c.1136+32C>G (n.1136+32C>G) c.609C>G c.697C>G (p.Pro233Ala) n.426C>G | |
17 | g.44351784C>T | CA399766570 | GRN | c.1168C>T (p.Pro390Ser) c.1136+32C>T (n.1136+32C>T) c.609C>T c.697C>T (p.Pro233Ser) n.426C>T | |
17 | g.44351785C>A | CA399766573 | GRN | c.1169C>A (p.Pro390Gln) c.1136+33C>A (n.1136+33C>A) c.610C>A c.698C>A (p.Pro233Gln) n.427C>A | |
17 | g.44351785C= | CA2261354330 | GRN | c.1169C= (p.Pro390=) c.1136+33C= (n.1136+33C=) c.610C= c.698C= (p.Pro233=) n.427C= | |
17 | g.44351785C>G | CA399766576 | GRN | c.1169C>G (p.Pro390Arg) c.1136+33C>G (n.1136+33C>G) c.610C>G c.698C>G (p.Pro233Arg) n.427C>G | |
17 | g.44351785C>T | CA399766578 | GRN | c.1169C>T (p.Pro390Leu) c.1136+33C>T (n.1136+33C>T) c.610C>T c.698C>T (p.Pro233Leu) n.427C>T | dbSNP gnomAD v4 |
17 | g.44351786A>C | CA500622163 | GRN | c.1170A>C (p.Pro390=) c.1136+34A>C (n.1136+34A>C) c.611A>C c.699A>C (p.Pro233=) n.428A>C | |
17 | g.44351786A>G | CA500622164 | GRN | c.1170A>G (p.Pro390=) c.1136+34A>G (n.1136+34A>G) c.611A>G c.699A>G (p.Pro233=) n.428A>G | |
17 | g.44351786A>T | CA500622165 | GRN | c.1170A>T (p.Pro390=) c.1136+34A>T (n.1136+34A>T) c.611A>T c.699A>T (p.Pro233=) n.428A>T | gnomAD v4 |
17 | g.44351787A= | CA2261354331 | GRN | c.1171A= (p.Ile391=) c.1136+35A= (n.1136+35A=) c.612A= c.700A= (p.Ile234=) n.429A= | |
17 | g.44351787A>C | CA399766582 | GRN | c.1171A>C (p.Ile391Leu) c.1136+35A>C (n.1136+35A>C) c.612A>C c.700A>C (p.Ile234Leu) n.429A>C | |
17 | g.44351787A>G | CA399766592 | GRN | c.1171A>G (p.Ile391Val) c.1136+35A>G (n.1136+35A>G) c.612A>G c.700A>G (p.Ile234Val) n.429A>G | gnomAD v4 |
17 | g.44351787A>T | CA399766594 | GRN | c.1171A>T (p.Ile391Phe) c.1136+35A>T (n.1136+35A>T) c.612A>T c.700A>T (p.Ile234Phe) n.429A>T | dbSNP gnomAD v4 |
17 | g.44351788T>A | CA399766601 | GRN | c.1172T>A (p.Ile391Asn) c.1136+36T>A (n.1136+36T>A) c.613T>A c.701T>A (p.Ile234Asn) n.430T>A | |
17 | g.44351788T>C | CA399766600 | GRN | c.1172T>C (p.Ile391Thr) c.1136+36T>C (n.1136+36T>C) c.613T>C c.701T>C (p.Ile234Thr) n.430T>C | |
17 | g.44351788T>G | CA399766597 | GRN | c.1172T>G (p.Ile391Ser) c.1136+36T>G (n.1136+36T>G) c.613T>G c.701T>G (p.Ile234Ser) n.430T>G | |
17 | g.44351789C>A | CA500622166 | GRN | c.1173C>A (p.Ile391=) c.1136+37C>A (n.1136+37C>A) c.614C>A c.702C>A (p.Ile234=) n.431C>A | gnomAD v4 |
17 | g.44351789C= | CA2261354332 | GRN | c.1173C= (p.Ile391=) c.1136+37C= (n.1136+37C=) c.614C= c.702C= (p.Ile234=) n.431C= | |
17 | g.44351789C>G | CA399766604 | GRN | c.1173C>G (p.Ile391Met) c.1136+37C>G (n.1136+37C>G) c.614C>G c.702C>G (p.Ile234Met) n.431C>G | |
17 | g.44351789C>T | CA290926462 | GRN | c.1173C>T (p.Ile391=) c.1136+37C>T (n.1136+37C>T) c.614C>T c.702C>T (p.Ile234=) n.431C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44351790C>A | CA399766609 | GRN | c.1174C>A (p.Pro392Thr) c.1136+38C>A (n.1136+38C>A) c.615C>A c.703C>A (p.Pro235Thr) n.432C>A | COSMIC |
17 | g.44351790C>G | CA399766612 | GRN | c.1174C>G (p.Pro392Ala) c.1136+38C>G (n.1136+38C>G) c.615C>G c.703C>G (p.Pro235Ala) n.432C>G | |
17 | g.44351790C>T | CA399766615 | GRN | c.1174C>T (p.Pro392Ser) c.1136+38C>T (n.1136+38C>T) c.615C>T c.703C>T (p.Pro235Ser) n.432C>T | gnomAD v4 |
17 | g.44351791C>A | CA399766618 | GRN | c.1175C>A (p.Pro392Gln) c.1136+39C>A (n.1136+39C>A) c.616C>A c.704C>A (p.Pro235Gln) n.433C>A | |
17 | g.44351791C>G | CA399766621 | GRN | c.1175C>G (p.Pro392Arg) c.1136+39C>G (n.1136+39C>G) c.616C>G c.704C>G (p.Pro235Arg) n.433C>G | |
17 | g.44351791C>T | CA399766624 | GRN | c.1175C>T (p.Pro392Leu) c.1136+39C>T (n.1136+39C>T) c.616C>T c.704C>T (p.Pro235Leu) n.433C>T | |
17 | g.44351792A= | CA2261354333 | GRN | c.1176A= (p.Pro392=) c.1136+40A= (n.1136+40A=) c.617A= c.705A= (p.Pro235=) n.434A= | |
17 | g.44351792A>C | CA225316 | GRN | c.1176A>C (p.Pro392=) c.1136+40A>C (n.1136+40A>C) c.617A>C c.705A>C (p.Pro235=) n.434A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44351792A>G | CA500622168 | GRN | c.1176A>G (p.Pro392=) c.1136+40A>G (n.1136+40A>G) c.617A>G c.705A>G (p.Pro235=) n.434A>G | gnomAD v4 |
17 | g.44351792A>T | CA500622170 | GRN | c.1176A>T (p.Pro392=) c.1136+40A>T (n.1136+40A>T) c.617A>T c.705A>T (p.Pro235=) n.434A>T | |
17 | g.44351793G>A | CA399766631 | GRN | c.1177G>A (p.Glu393Lys) c.1136+41G>A (n.1136+41G>A) c.618G>A c.706G>A (p.Glu236Lys) n.435G>A | |
17 | g.44351793G>C | CA399766635 | GRN | c.1177G>C (p.Glu393Gln) c.1136+41G>C (n.1136+41G>C) c.618G>C c.706G>C (p.Glu236Gln) n.435G>C | |
17 | g.44351793G>T | CA399766638 | GRN | c.1177G>T (p.Glu393Ter) c.1136+41G>T (n.1136+41G>T) c.618G>T c.706G>T (p.Glu236Ter) n.435G>T |