Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.128338072C>A | CA360759405 | FBN2 | n.307G>T n.388G>T c.3523G>T (p.Val1175Leu) c.73G>T (p.Val25Leu) c.3424G>T (p.Val1142Leu) c.3520G>T (p.Val1174Leu) c.3370G>T (p.Val1124Leu) | gnomAD v4 |
5 | g.128338072C>G | CA360759401 | FBN2 | n.307G>C n.388G>C c.3523G>C (p.Val1175Leu) c.73G>C (p.Val25Leu) c.3424G>C (p.Val1142Leu) c.3520G>C (p.Val1174Leu) c.3370G>C (p.Val1124Leu) | |
5 | g.128338072C>T | CA360759403 | FBN2 | n.307G>A n.388G>A c.3523G>A (p.Val1175Met) c.73G>A (p.Val25Met) c.3424G>A (p.Val1142Met) c.3520G>A (p.Val1174Met) c.3370G>A (p.Val1124Met) | |
5 | g.128338073A>C | CA360759406 | FBN2 | n.306T>G n.387T>G c.3522T>G (p.Cys1174Trp) c.72T>G (p.Cys24Trp) c.3423T>G (p.Cys1141Trp) c.3519T>G (p.Cys1173Trp) c.3369T>G (p.Cys1123Trp) | |
5 | g.128338073A>G | CA446310649 | FBN2 | n.306T>C n.387T>C c.3522T>C (p.Cys1174=) c.72T>C (p.Cys24=) c.3423T>C (p.Cys1141=) c.3519T>C (p.Cys1173=) c.3369T>C (p.Cys1123=) | dbSNP |
5 | g.128338073A>T | CA360759408 | FBN2 | n.306T>A n.387T>A c.3522T>A (p.Cys1174Ter) c.72T>A (p.Cys24Ter) c.3423T>A (p.Cys1141Ter) c.3519T>A (p.Cys1173Ter) c.3369T>A (p.Cys1123Ter) | |
5 | g.128338074C>A | CA360759410 | FBN2 | n.305G>T n.386G>T c.3521G>T (p.Cys1174Phe) c.71G>T (p.Cys24Phe) c.3422G>T (p.Cys1141Phe) c.3518G>T (p.Cys1173Phe) c.3368G>T (p.Cys1123Phe) | ClinVar dbSNP |
5 | g.128338074C= | CA1581270740 | FBN2 | n.305G= n.386G= c.3521G= (p.Cys1174=) c.71G= (p.Cys24=) c.3422G= (p.Cys1141=) c.3518G= (p.Cys1173=) c.3368G= (p.Cys1123=) | |
5 | g.128338074C>G | CA360759411 | FBN2 | n.305G>C n.386G>C c.3521G>C (p.Cys1174Ser) c.71G>C (p.Cys24Ser) c.3422G>C (p.Cys1141Ser) c.3518G>C (p.Cys1173Ser) c.3368G>C (p.Cys1123Ser) | |
5 | g.128338074C>T | CA360759412 | FBN2 | n.305G>A n.386G>A c.3521G>A (p.Cys1174Tyr) c.71G>A (p.Cys24Tyr) c.3422G>A (p.Cys1141Tyr) c.3518G>A (p.Cys1173Tyr) c.3368G>A (p.Cys1123Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128338075A= | CA1581270741 | FBN2 | n.304T= n.385T= c.3520T= (p.Cys1174=) c.70T= (p.Cys24=) c.3421T= (p.Cys1141=) c.3517T= (p.Cys1173=) c.3367T= (p.Cys1123=) | |
5 | g.128338075A>C | CA322422 | FBN2 | n.304T>G n.385T>G c.3520T>G (p.Cys1174Gly) c.70T>G (p.Cys24Gly) c.3421T>G (p.Cys1141Gly) c.3517T>G (p.Cys1173Gly) c.3367T>G (p.Cys1123Gly) | dbSNP |
5 | g.128338075A>G | CA360759416 | FBN2 | n.304T>C n.385T>C c.3520T>C (p.Cys1174Arg) c.70T>C (p.Cys24Arg) c.3421T>C (p.Cys1141Arg) c.3517T>C (p.Cys1173Arg) c.3367T>C (p.Cys1123Arg) | ClinVar dbSNP |
5 | g.128338075A>T | CA360759418 | FBN2 | n.304T>A n.385T>A c.3520T>A (p.Cys1174Ser) c.70T>A (p.Cys24Ser) c.3421T>A (p.Cys1141Ser) c.3517T>A (p.Cys1173Ser) c.3367T>A (p.Cys1123Ser) | |
5 | g.128338076G>A | CA446310654 | FBN2 | n.303C>T n.384C>T c.3519C>T (p.Thr1173=) c.69C>T (p.Thr23=) c.3420C>T (p.Thr1140=) c.3516C>T (p.Thr1172=) c.3366C>T (p.Thr1122=) | |
5 | g.128338076G>C | CA3395205 | FBN2 | n.303C>G n.384C>G c.3519C>G (p.Thr1173=) c.69C>G (p.Thr23=) c.3420C>G (p.Thr1140=) c.3516C>G (p.Thr1172=) c.3366C>G (p.Thr1122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338076G= | CA1581270742 | FBN2 | n.303C= n.384C= c.3519C= (p.Thr1173=) c.69C= (p.Thr23=) c.3420C= (p.Thr1140=) c.3516C= (p.Thr1172=) c.3366C= (p.Thr1122=) | |
5 | g.128338076G>T | CA446310655 | FBN2 | n.303C>A n.384C>A c.3519C>A (p.Thr1173=) c.69C>A (p.Thr23=) c.3420C>A (p.Thr1140=) c.3516C>A (p.Thr1172=) c.3366C>A (p.Thr1122=) | |
5 | g.128338077G>A | CA360759421 | FBN2 | n.302C>T n.383C>T c.3518C>T (p.Thr1173Ile) c.68C>T (p.Thr23Ile) c.3419C>T (p.Thr1140Ile) c.3515C>T (p.Thr1172Ile) c.3365C>T (p.Thr1122Ile) | dbSNP gnomAD v2 |
5 | g.128338077G>C | CA323111 | FBN2 | n.302C>G n.383C>G c.3518C>G (p.Thr1173Ser) c.68C>G (p.Thr23Ser) c.3419C>G (p.Thr1140Ser) c.3515C>G (p.Thr1172Ser) c.3365C>G (p.Thr1122Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128338077G= | CA1581270743 | FBN2 | n.302C= n.383C= c.3518C= (p.Thr1173=) c.68C= (p.Thr23=) c.3419C= (p.Thr1140=) c.3515C= (p.Thr1172=) c.3365C= (p.Thr1122=) | |
5 | g.128338077G>T | CA360759424 | FBN2 | n.302C>A n.383C>A c.3518C>A (p.Thr1173Asn) c.68C>A (p.Thr23Asn) c.3419C>A (p.Thr1140Asn) c.3515C>A (p.Thr1172Asn) c.3365C>A (p.Thr1122Asn) | |
5 | g.128338078T>A | CA360759430 | FBN2 | n.301A>T n.382A>T c.3517A>T (p.Thr1173Ser) c.67A>T (p.Thr23Ser) c.3418A>T (p.Thr1140Ser) c.3514A>T (p.Thr1172Ser) c.3364A>T (p.Thr1122Ser) | ClinVar dbSNP |
5 | g.128338078T>C | CA360759428 | FBN2 | n.301A>G n.382A>G c.3517A>G (p.Thr1173Ala) c.67A>G (p.Thr23Ala) c.3418A>G (p.Thr1140Ala) c.3514A>G (p.Thr1172Ala) c.3364A>G (p.Thr1122Ala) | |
5 | g.128338078T>G | CA360759426 | FBN2 | n.301A>C n.382A>C c.3517A>C (p.Thr1173Pro) c.67A>C (p.Thr23Pro) c.3418A>C (p.Thr1140Pro) c.3514A>C (p.Thr1172Pro) c.3364A>C (p.Thr1122Pro) | |
5 | g.128338078T= | CA1581270744 | FBN2 | n.301A= n.382A= c.3517A= (p.Thr1173=) c.67A= (p.Thr23=) c.3418A= (p.Thr1140=) c.3514A= (p.Thr1172=) c.3364A= (p.Thr1122=) | |
5 | g.128338079G>A | CA446310662 | FBN2 | n.300C>T n.381C>T c.3516C>T (p.Gly1172=) c.66C>T (p.Gly22=) c.3417C>T (p.Gly1139=) c.3513C>T (p.Gly1171=) c.3363C>T (p.Gly1121=) | |
5 | g.128338079G>C | CA446310663 | FBN2 | n.300C>G n.381C>G c.3516C>G (p.Gly1172=) c.66C>G (p.Gly22=) c.3417C>G (p.Gly1139=) c.3513C>G (p.Gly1171=) c.3363C>G (p.Gly1121=) | |
5 | g.128338079G>T | CA446310664 | FBN2 | n.300C>A n.381C>A c.3516C>A (p.Gly1172=) c.66C>A (p.Gly22=) c.3417C>A (p.Gly1139=) c.3513C>A (p.Gly1171=) c.3363C>A (p.Gly1121=) | |
5 | g.128338080C>A | CA360759432 | FBN2 | n.299G>T n.380G>T c.3515G>T (p.Gly1172Val) c.65G>T (p.Gly22Val) c.3416G>T (p.Gly1139Val) c.3512G>T (p.Gly1171Val) c.3362G>T (p.Gly1121Val) | |
5 | g.128338080C= | CA1581270745 | FBN2 | n.299G= n.380G= c.3515G= (p.Gly1172=) c.65G= (p.Gly22=) c.3416G= (p.Gly1139=) c.3512G= (p.Gly1171=) c.3362G= (p.Gly1121=) | |
5 | g.128338080C>G | CA127014906 | FBN2 | n.299G>C n.380G>C c.3515G>C (p.Gly1172Ala) c.65G>C (p.Gly22Ala) c.3416G>C (p.Gly1139Ala) c.3512G>C (p.Gly1171Ala) c.3362G>C (p.Gly1121Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128338080C>T | CA16611897 | FBN2 | n.299G>A n.380G>A c.3515G>A (p.Gly1172Asp) c.65G>A (p.Gly22Asp) c.3416G>A (p.Gly1139Asp) c.3512G>A (p.Gly1171Asp) c.3362G>A (p.Gly1121Asp) | ClinVar dbSNP |
5 | g.128338081C>A | CA360759437 | FBN2 | n.298G>T n.379G>T c.3514G>T (p.Gly1172Cys) c.64G>T (p.Gly22Cys) c.3415G>T (p.Gly1139Cys) c.3511G>T (p.Gly1171Cys) c.3361G>T (p.Gly1121Cys) | ClinVar dbSNP |
5 | g.128338081C= | CA1581270746 | FBN2 | n.298G= n.379G= c.3514G= (p.Gly1172=) c.64G= (p.Gly22=) c.3415G= (p.Gly1139=) c.3511G= (p.Gly1171=) c.3361G= (p.Gly1121=) | |
5 | g.128338081C>G | CA360759439 | FBN2 | n.298G>C n.379G>C c.3514G>C (p.Gly1172Arg) c.64G>C (p.Gly22Arg) c.3415G>C (p.Gly1139Arg) c.3511G>C (p.Gly1171Arg) c.3361G>C (p.Gly1121Arg) | |
5 | g.128338081C>T | CA3395206 | FBN2 | n.298G>A n.379G>A c.3514G>A (p.Gly1172Ser) c.64G>A (p.Gly22Ser) c.3415G>A (p.Gly1139Ser) c.3511G>A (p.Gly1171Ser) c.3361G>A (p.Gly1121Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338082A>C | CA446310670 | FBN2 | n.297T>G n.378T>G c.3513T>G (p.Gly1171=) c.63T>G (p.Gly21=) c.3414T>G (p.Gly1138=) c.3510T>G (p.Gly1170=) c.3360T>G (p.Gly1120=) | |
5 | g.128338082A>G | CA446310671 | FBN2 | n.297T>C n.378T>C c.3513T>C (p.Gly1171=) c.63T>C (p.Gly21=) c.3414T>C (p.Gly1138=) c.3510T>C (p.Gly1170=) c.3360T>C (p.Gly1120=) | |
5 | g.128338082A>T | CA446310672 | FBN2 | n.297T>A n.378T>A c.3513T>A (p.Gly1171=) c.63T>A (p.Gly21=) c.3414T>A (p.Gly1138=) c.3510T>A (p.Gly1170=) c.3360T>A (p.Gly1120=) | |
5 | g.128338083C>A | CA360759445 | FBN2 | n.296G>T n.377G>T c.3512G>T (p.Gly1171Val) c.62G>T (p.Gly21Val) c.3413G>T (p.Gly1138Val) c.3509G>T (p.Gly1170Val) c.3359G>T (p.Gly1120Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128338083C= | CA1581270747 | FBN2 | n.296G= n.377G= c.3512G= (p.Gly1171=) c.62G= (p.Gly21=) c.3413G= (p.Gly1138=) c.3509G= (p.Gly1170=) c.3359G= (p.Gly1120=) | |
5 | g.128338083C>G | CA360759447 | FBN2 | n.296G>C n.377G>C c.3512G>C (p.Gly1171Ala) c.62G>C (p.Gly21Ala) c.3413G>C (p.Gly1138Ala) c.3509G>C (p.Gly1170Ala) c.3359G>C (p.Gly1120Ala) | dbSNP |
5 | g.128338083C>T | CA360759449 | FBN2 | n.296G>A n.377G>A c.3512G>A (p.Gly1171Asp) c.62G>A (p.Gly21Asp) c.3413G>A (p.Gly1138Asp) c.3509G>A (p.Gly1170Asp) c.3359G>A (p.Gly1120Asp) | gnomAD v4 |
5 | g.128338084C>A | CA360759451 | FBN2 | n.295G>T n.376G>T c.3511G>T (p.Gly1171Cys) c.61G>T (p.Gly21Cys) c.3412G>T (p.Gly1138Cys) c.3508G>T (p.Gly1170Cys) c.3358G>T (p.Gly1120Cys) | |
5 | g.128338084C= | CA1581270748 | FBN2 | n.295G= n.376G= c.3511G= (p.Gly1171=) c.61G= (p.Gly21=) c.3412G= (p.Gly1138=) c.3508G= (p.Gly1170=) c.3358G= (p.Gly1120=) | |
5 | g.128338084C>G | CA360759453 | FBN2 | n.295G>C n.376G>C c.3511G>C (p.Gly1171Arg) c.61G>C (p.Gly21Arg) c.3412G>C (p.Gly1138Arg) c.3508G>C (p.Gly1170Arg) c.3358G>C (p.Gly1120Arg) | |
5 | g.128338084C>T | CA3395207 | FBN2 | n.295G>A n.376G>A c.3511G>A (p.Gly1171Ser) c.61G>A (p.Gly21Ser) c.3412G>A (p.Gly1138Ser) c.3508G>A (p.Gly1170Ser) c.3358G>A (p.Gly1120Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338085C>A | CA360759456 | FBN2 | n.294G>T n.375G>T c.3510G>T (p.Arg1170Ser) c.60G>T (p.Arg20Ser) c.3411G>T (p.Arg1137Ser) c.3507G>T (p.Arg1169Ser) c.3357G>T (p.Arg1119Ser) | gnomAD v4 |
5 | g.128338085C>G | CA360759458 | FBN2 | n.294G>C n.375G>C c.3510G>C (p.Arg1170Ser) c.60G>C (p.Arg20Ser) c.3411G>C (p.Arg1137Ser) c.3507G>C (p.Arg1169Ser) c.3357G>C (p.Arg1119Ser) | |
5 | g.128338085C>T | CA446310678 | FBN2 | n.294G>A n.375G>A c.3510G>A (p.Arg1170=) c.60G>A (p.Arg20=) c.3411G>A (p.Arg1137=) c.3507G>A (p.Arg1169=) c.3357G>A (p.Arg1119=) | |
5 | g.128338086C>A | CA360759463 | FBN2 | n.293G>T n.374G>T c.3509G>T (p.Arg1170Met) c.59G>T (p.Arg20Met) c.3410G>T (p.Arg1137Met) c.3506G>T (p.Arg1169Met) c.3356G>T (p.Arg1119Met) | COSMIC COSMIC |
5 | g.128338086C= | CA1581270749 | FBN2 | n.293G= n.374G= c.3509G= (p.Arg1170=) c.59G= (p.Arg20=) c.3410G= (p.Arg1137=) c.3506G= (p.Arg1169=) c.3356G= (p.Arg1119=) | |
5 | g.128338086C>G | CA360759462 | FBN2 | n.293G>C n.374G>C c.3509G>C (p.Arg1170Thr) c.59G>C (p.Arg20Thr) c.3410G>C (p.Arg1137Thr) c.3506G>C (p.Arg1169Thr) c.3356G>C (p.Arg1119Thr) | dbSNP gnomAD v4 |
5 | g.128338086C>T | CA360759461 | FBN2 | n.293G>A n.374G>A c.3509G>A (p.Arg1170Lys) c.59G>A (p.Arg20Lys) c.3410G>A (p.Arg1137Lys) c.3506G>A (p.Arg1169Lys) c.3356G>A (p.Arg1119Lys) | |
5 | g.128338087T>A | CA360759465 | FBN2 | n.292A>T n.373A>T c.3508A>T (p.Arg1170Trp) c.58A>T (p.Arg20Trp) c.3409A>T (p.Arg1137Trp) c.3505A>T (p.Arg1169Trp) c.3355A>T (p.Arg1119Trp) | COSMIC COSMIC |
5 | g.128338087T>C | CA360759467 | FBN2 | n.292A>G n.373A>G c.3508A>G (p.Arg1170Gly) c.58A>G (p.Arg20Gly) c.3409A>G (p.Arg1137Gly) c.3505A>G (p.Arg1169Gly) c.3355A>G (p.Arg1119Gly) | |
5 | g.128338087T>G | CA446310683 | FBN2 | n.292A>C n.373A>C c.3508A>C (p.Arg1170=) c.58A>C (p.Arg20=) c.3409A>C (p.Arg1137=) c.3505A>C (p.Arg1169=) c.3355A>C (p.Arg1119=) | |
5 | g.128338088A= | CA1581270750 | FBN2 | n.291T= n.372T= c.3507T= (p.Cys1169=) c.57T= (p.Cys19=) c.3408T= (p.Cys1136=) c.3504T= (p.Cys1168=) c.3354T= (p.Cys1118=) | |
5 | g.128338088A>C | CA360759469 | FBN2 | n.291T>G n.372T>G c.3507T>G (p.Cys1169Trp) c.57T>G (p.Cys19Trp) c.3408T>G (p.Cys1136Trp) c.3504T>G (p.Cys1168Trp) c.3354T>G (p.Cys1118Trp) | |
5 | g.128338088A>G | CA446310684 | FBN2 | n.291T>C n.372T>C c.3507T>C (p.Cys1169=) c.57T>C (p.Cys19=) c.3408T>C (p.Cys1136=) c.3504T>C (p.Cys1168=) c.3354T>C (p.Cys1118=) | ClinVar dbSNP |
5 | g.128338088A>T | CA360759470 | FBN2 | n.291T>A n.372T>A c.3507T>A (p.Cys1169Ter) c.57T>A (p.Cys19Ter) c.3408T>A (p.Cys1136Ter) c.3504T>A (p.Cys1168Ter) c.3354T>A (p.Cys1118Ter) | |
5 | g.128338089C>A | CA360759472 | FBN2 | n.290G>T n.371G>T c.3506G>T (p.Cys1169Phe) c.56G>T (p.Cys19Phe) c.3407G>T (p.Cys1136Phe) c.3503G>T (p.Cys1168Phe) c.3353G>T (p.Cys1118Phe) | |
5 | g.128338089C>G | CA360759474 | FBN2 | n.290G>C n.371G>C c.3506G>C (p.Cys1169Ser) c.56G>C (p.Cys19Ser) c.3407G>C (p.Cys1136Ser) c.3503G>C (p.Cys1168Ser) c.3353G>C (p.Cys1118Ser) | |
5 | g.128338089C>T | CA360759476 | FBN2 | n.290G>A n.371G>A c.3506G>A (p.Cys1169Tyr) c.56G>A (p.Cys19Tyr) c.3407G>A (p.Cys1136Tyr) c.3503G>A (p.Cys1168Tyr) c.3353G>A (p.Cys1118Tyr) | |
5 | g.128338090A>C | CA360759478 | FBN2 | n.289T>G n.370T>G c.3505T>G (p.Cys1169Gly) c.55T>G (p.Cys19Gly) c.3406T>G (p.Cys1136Gly) c.3502T>G (p.Cys1168Gly) c.3352T>G (p.Cys1118Gly) | |
5 | g.128338090A>G | CA360759480 | FBN2 | n.289T>C n.370T>C c.3505T>C (p.Cys1169Arg) c.55T>C (p.Cys19Arg) c.3406T>C (p.Cys1136Arg) c.3502T>C (p.Cys1168Arg) c.3352T>C (p.Cys1118Arg) | ClinVar |
5 | g.128338090A>T | CA360759481 | FBN2 | n.289T>A n.370T>A c.3505T>A (p.Cys1169Ser) c.55T>A (p.Cys19Ser) c.3406T>A (p.Cys1136Ser) c.3502T>A (p.Cys1168Ser) c.3352T>A (p.Cys1118Ser) | |
5 | g.128338091A>C | CA446310690 | FBN2 | n.288T>G n.369T>G c.3504T>G (p.Leu1168=) c.54T>G (p.Leu18=) c.3405T>G (p.Leu1135=) c.3501T>G (p.Leu1167=) c.3351T>G (p.Leu1117=) | |
5 | g.128338091A>G | CA446310691 | FBN2 | n.288T>C n.369T>C c.3504T>C (p.Leu1168=) c.54T>C (p.Leu18=) c.3405T>C (p.Leu1135=) c.3501T>C (p.Leu1167=) c.3351T>C (p.Leu1117=) | |
5 | g.128338091A>T | CA446310692 | FBN2 | n.288T>A n.369T>A c.3504T>A (p.Leu1168=) c.54T>A (p.Leu18=) c.3405T>A (p.Leu1135=) c.3501T>A (p.Leu1167=) c.3351T>A (p.Leu1117=) | |
5 | g.128338092A= | CA1581270751 | FBN2 | n.287T= n.368T= c.3503T= (p.Leu1168=) c.53T= (p.Leu18=) c.3404T= (p.Leu1135=) c.3500T= (p.Leu1167=) c.3350T= (p.Leu1117=) | |
5 | g.128338092A>C | CA360759483 | FBN2 | n.287T>G n.368T>G c.3503T>G (p.Leu1168Arg) c.53T>G (p.Leu18Arg) c.3404T>G (p.Leu1135Arg) c.3500T>G (p.Leu1167Arg) c.3350T>G (p.Leu1117Arg) | |
5 | g.128338092A>G | CA3395208 | FBN2 | n.287T>C n.368T>C c.3503T>C (p.Leu1168Pro) c.53T>C (p.Leu18Pro) c.3404T>C (p.Leu1135Pro) c.3500T>C (p.Leu1167Pro) c.3350T>C (p.Leu1117Pro) | dbSNP ExAC |
5 | g.128338092A>T | CA360759485 | FBN2 | n.287T>A n.368T>A c.3503T>A (p.Leu1168His) c.53T>A (p.Leu18His) c.3404T>A (p.Leu1135His) c.3500T>A (p.Leu1167His) c.3350T>A (p.Leu1117His) | |
5 | g.128338093G>A | CA360759491 | FBN2 | n.286C>T n.367C>T c.3502C>T (p.Leu1168Phe) c.52C>T (p.Leu18Phe) c.3403C>T (p.Leu1135Phe) c.3499C>T (p.Leu1167Phe) c.3349C>T (p.Leu1117Phe) | |
5 | g.128338093G>C | CA360759490 | FBN2 | n.286C>G n.367C>G c.3502C>G (p.Leu1168Val) c.52C>G (p.Leu18Val) c.3403C>G (p.Leu1135Val) c.3499C>G (p.Leu1167Val) c.3349C>G (p.Leu1117Val) | |
5 | g.128338093G>T | CA360759488 | FBN2 | n.286C>A n.367C>A c.3502C>A (p.Leu1168Ile) c.52C>A (p.Leu18Ile) c.3403C>A (p.Leu1135Ile) c.3499C>A (p.Leu1167Ile) c.3349C>A (p.Leu1117Ile) | |
5 | g.128338094G>A | CA446310696 | FBN2 | n.285C>T n.366C>T c.3501C>T (p.Leu1167=) c.51C>T (p.Leu17=) c.3402C>T (p.Leu1134=) c.3498C>T (p.Leu1166=) c.3348C>T (p.Leu1116=) | |
5 | g.128338094G>C | CA446310695 | FBN2 | n.285C>G n.366C>G c.3501C>G (p.Leu1167=) c.51C>G (p.Leu17=) c.3402C>G (p.Leu1134=) c.3498C>G (p.Leu1166=) c.3348C>G (p.Leu1116=) | ClinVar dbSNP gnomAD v4 |
5 | g.128338094G>T | CA446310698 | FBN2 | n.285C>A n.366C>A c.3501C>A (p.Leu1167=) c.51C>A (p.Leu17=) c.3402C>A (p.Leu1134=) c.3498C>A (p.Leu1166=) c.3348C>A (p.Leu1116=) | |
5 | g.128338095A>C | CA360759497 | FBN2 | n.284T>G n.365T>G c.3500T>G (p.Leu1167Arg) c.50T>G (p.Leu17Arg) c.3401T>G (p.Leu1134Arg) c.3497T>G (p.Leu1166Arg) c.3347T>G (p.Leu1116Arg) | |
5 | g.128338095A>G | CA360759495 | FBN2 | n.284T>C n.365T>C c.3500T>C (p.Leu1167Pro) c.50T>C (p.Leu17Pro) c.3401T>C (p.Leu1134Pro) c.3497T>C (p.Leu1166Pro) c.3347T>C (p.Leu1116Pro) | |
5 | g.128338095A>T | CA360759498 | FBN2 | n.284T>A n.365T>A c.3500T>A (p.Leu1167His) c.50T>A (p.Leu17His) c.3401T>A (p.Leu1134His) c.3497T>A (p.Leu1166His) c.3347T>A (p.Leu1116His) | |
5 | g.128338096G>A | CA360759499 | FBN2 | n.283C>T n.364C>T c.3499C>T (p.Leu1167Phe) c.49C>T (p.Leu17Phe) c.3400C>T (p.Leu1134Phe) c.3496C>T (p.Leu1166Phe) c.3346C>T (p.Leu1116Phe) | |
5 | g.128338096G>C | CA3395209 | FBN2 | n.283C>G n.364C>G c.3499C>G (p.Leu1167Val) c.49C>G (p.Leu17Val) c.3400C>G (p.Leu1134Val) c.3496C>G (p.Leu1166Val) c.3346C>G (p.Leu1116Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128338096G= | CA1581270752 | FBN2 | n.283C= n.364C= c.3499C= (p.Leu1167=) c.49C= (p.Leu17=) c.3400C= (p.Leu1134=) c.3496C= (p.Leu1166=) c.3346C= (p.Leu1116=) | |
5 | g.128338096G>T | CA360759500 | FBN2 | n.283C>A n.364C>A c.3499C>A (p.Leu1167Ile) c.49C>A (p.Leu17Ile) c.3400C>A (p.Leu1134Ile) c.3496C>A (p.Leu1166Ile) c.3346C>A (p.Leu1116Ile) | |
5 | g.128338097A>C | CA446310704 | FBN2 | n.282T>G n.363T>G c.3498T>G (p.Pro1166=) c.48T>G (p.Pro16=) c.3399T>G (p.Pro1133=) c.3495T>G (p.Pro1165=) c.3345T>G (p.Pro1115=) | |
5 | g.128338097A>G | CA446310705 | FBN2 | n.282T>C n.363T>C c.3498T>C (p.Pro1166=) c.48T>C (p.Pro16=) c.3399T>C (p.Pro1133=) c.3495T>C (p.Pro1165=) c.3345T>C (p.Pro1115=) | gnomAD v4 |
5 | g.128338097A>T | CA446310707 | FBN2 | n.282T>A n.363T>A c.3498T>A (p.Pro1166=) c.48T>A (p.Pro16=) c.3399T>A (p.Pro1133=) c.3495T>A (p.Pro1165=) c.3345T>A (p.Pro1115=) | |
5 | g.128338098G>A | CA360759504 | FBN2 | n.281C>T n.362C>T c.3497C>T (p.Pro1166Leu) c.47C>T (p.Pro16Leu) c.3398C>T (p.Pro1133Leu) c.3494C>T (p.Pro1165Leu) c.3344C>T (p.Pro1115Leu) | gnomAD v4 |
5 | g.128338098G>C | CA360759508 | FBN2 | n.281C>G n.362C>G c.3497C>G (p.Pro1166Arg) c.47C>G (p.Pro16Arg) c.3398C>G (p.Pro1133Arg) c.3494C>G (p.Pro1165Arg) c.3344C>G (p.Pro1115Arg) | |
5 | g.128338098G>T | CA360759506 | FBN2 | n.281C>A n.362C>A c.3497C>A (p.Pro1166His) c.47C>A (p.Pro16His) c.3398C>A (p.Pro1133His) c.3494C>A (p.Pro1165His) c.3344C>A (p.Pro1115His) | |
5 | g.128338099G>A | CA360759510 | FBN2 | n.280C>T n.361C>T c.3496C>T (p.Pro1166Ser) c.46C>T (p.Pro16Ser) c.3397C>T (p.Pro1133Ser) c.3493C>T (p.Pro1165Ser) c.3343C>T (p.Pro1115Ser) | |
5 | g.128338099G>C | CA360759519 | FBN2 | n.280C>G n.361C>G c.3496C>G (p.Pro1166Ala) c.46C>G (p.Pro16Ala) c.3397C>G (p.Pro1133Ala) c.3493C>G (p.Pro1165Ala) c.3343C>G (p.Pro1115Ala) | |
5 | g.128338099G= | CA1581270753 | FBN2 | n.280C= n.361C= c.3496C= (p.Pro1166=) c.46C= (p.Pro16=) c.3397C= (p.Pro1133=) c.3493C= (p.Pro1165=) c.3343C= (p.Pro1115=) | |
5 | g.128338099G>T | CA360759518 | FBN2 | n.280C>A n.361C>A c.3496C>A (p.Pro1166Thr) c.46C>A (p.Pro16Thr) c.3397C>A (p.Pro1133Thr) c.3493C>A (p.Pro1165Thr) c.3343C>A (p.Pro1115Thr) | dbSNP gnomAD v4 |
5 | g.128338100G>A | CA446310712 | FBN2 | n.279C>T n.360C>T c.3495C>T (p.Asn1165=) c.45C>T (p.Asn15=) c.3396C>T (p.Asn1132=) c.3492C>T (p.Asn1164=) c.3342C>T (p.Asn1114=) | dbSNP |
5 | g.128338100G>C | CA360759522 | FBN2 | n.279C>G n.360C>G c.3495C>G (p.Asn1165Lys) c.45C>G (p.Asn15Lys) c.3396C>G (p.Asn1132Lys) c.3492C>G (p.Asn1164Lys) c.3342C>G (p.Asn1114Lys) | ClinVar dbSNP |
5 | g.128338100G= | CA1581270754 | FBN2 | n.279C= n.360C= c.3495C= (p.Asn1165=) c.45C= (p.Asn15=) c.3396C= (p.Asn1132=) c.3492C= (p.Asn1164=) c.3342C= (p.Asn1114=) | |
5 | g.128338100G>T | CA3395210 | FBN2 | n.279C>A n.360C>A c.3495C>A (p.Asn1165Lys) c.45C>A (p.Asn15Lys) c.3396C>A (p.Asn1132Lys) c.3492C>A (p.Asn1164Lys) c.3342C>A (p.Asn1114Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128338101T>A | CA360759526 | FBN2 | n.278A>T n.359A>T c.3494A>T (p.Asn1165Ile) c.44A>T (p.Asn15Ile) c.3395A>T (p.Asn1132Ile) c.3491A>T (p.Asn1164Ile) c.3341A>T (p.Asn1114Ile) | |
5 | g.128338101T>C | CA360759527 | FBN2 | n.278A>G n.359A>G c.3494A>G (p.Asn1165Ser) c.44A>G (p.Asn15Ser) c.3395A>G (p.Asn1132Ser) c.3491A>G (p.Asn1164Ser) c.3341A>G (p.Asn1114Ser) | gnomAD v4 |
5 | g.128338101T>G | CA360759529 | FBN2 | n.278A>C n.359A>C c.3494A>C (p.Asn1165Thr) c.44A>C (p.Asn15Thr) c.3395A>C (p.Asn1132Thr) c.3491A>C (p.Asn1164Thr) c.3341A>C (p.Asn1114Thr) | |
5 | g.128338102T>A | CA360759532 | FBN2 | n.277A>T n.358A>T c.3493A>T (p.Asn1165Tyr) c.43A>T (p.Asn15Tyr) c.3394A>T (p.Asn1132Tyr) c.3490A>T (p.Asn1164Tyr) c.3340A>T (p.Asn1114Tyr) | |
5 | g.128338102T>C | CA360759533 | FBN2 | n.277A>G n.358A>G c.3493A>G (p.Asn1165Asp) c.43A>G (p.Asn15Asp) c.3394A>G (p.Asn1132Asp) c.3490A>G (p.Asn1164Asp) c.3340A>G (p.Asn1114Asp) | COSMIC |
5 | g.128338102T>G | CA360759534 | FBN2 | n.277A>C n.358A>C c.3493A>C (p.Asn1165His) c.43A>C (p.Asn15His) c.3394A>C (p.Asn1132His) c.3490A>C (p.Asn1164His) c.3340A>C (p.Asn1114His) | |
5 | g.128338103A>C | CA446310719 | FBN2 | n.276T>G n.357T>G c.3492T>G (p.Arg1164=) c.42T>G (p.Arg14=) c.3393T>G (p.Arg1131=) c.3489T>G (p.Arg1163=) c.3339T>G (p.Arg1113=) | |
5 | g.128338103A>G | CA446310721 | FBN2 | n.276T>C n.357T>C c.3492T>C (p.Arg1164=) c.42T>C (p.Arg14=) c.3393T>C (p.Arg1131=) c.3489T>C (p.Arg1163=) c.3339T>C (p.Arg1113=) | |
5 | g.128338103A>T | CA446310722 | FBN2 | n.276T>A n.357T>A c.3492T>A (p.Arg1164=) c.42T>A (p.Arg14=) c.3393T>A (p.Arg1131=) c.3489T>A (p.Arg1163=) c.3339T>A (p.Arg1113=) | |
5 | g.128338104C>A | CA360759536 | FBN2 | n.275G>T n.356G>T c.3491G>T (p.Arg1164Leu) c.41G>T (p.Arg14Leu) c.3392G>T (p.Arg1131Leu) c.3488G>T (p.Arg1163Leu) c.3338G>T (p.Arg1113Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338104C= | CA1581270755 | FBN2 | n.275G= n.356G= c.3491G= (p.Arg1164=) c.41G= (p.Arg14=) c.3392G= (p.Arg1131=) c.3488G= (p.Arg1163=) c.3338G= (p.Arg1113=) | |
5 | g.128338104C>G | CA360759538 | FBN2 | n.275G>C n.356G>C c.3491G>C (p.Arg1164Pro) c.41G>C (p.Arg14Pro) c.3392G>C (p.Arg1131Pro) c.3488G>C (p.Arg1163Pro) c.3338G>C (p.Arg1113Pro) | |
5 | g.128338104C>T | CA360759539 | FBN2 | n.275G>A n.356G>A c.3491G>A (p.Arg1164His) c.41G>A (p.Arg14His) c.3392G>A (p.Arg1131His) c.3488G>A (p.Arg1163His) c.3338G>A (p.Arg1113His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128338105G>A | CA10587614 | FBN2 | n.274C>T n.355C>T c.3490C>T (p.Arg1164Cys) c.40C>T (p.Arg14Cys) c.3391C>T (p.Arg1131Cys) c.3487C>T (p.Arg1163Cys) c.3337C>T (p.Arg1113Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
5 | g.128338105G>C | CA360759541 | FBN2 | n.274C>G n.355C>G c.3490C>G (p.Arg1164Gly) c.40C>G (p.Arg14Gly) c.3391C>G (p.Arg1131Gly) c.3487C>G (p.Arg1163Gly) c.3337C>G (p.Arg1113Gly) | gnomAD v4 |
5 | g.128338105G= | CA1581270756 | FBN2 | n.274C= n.355C= c.3490C= (p.Arg1164=) c.40C= (p.Arg14=) c.3391C= (p.Arg1131=) c.3487C= (p.Arg1163=) c.3337C= (p.Arg1113=) | |
5 | g.128338105G>T | CA360759543 | FBN2 | n.274C>A n.355C>A c.3490C>A (p.Arg1164Ser) c.40C>A (p.Arg14Ser) c.3391C>A (p.Arg1131Ser) c.3487C>A (p.Arg1163Ser) c.3337C>A (p.Arg1113Ser) | |
5 | g.128338106T>A | CA360759546 | FBN2 | n.273A>T n.354A>T c.3489A>T (p.Glu1163Asp) c.39A>T (p.Glu13Asp) c.3390A>T (p.Glu1130Asp) c.3486A>T (p.Glu1162Asp) c.3336A>T (p.Glu1112Asp) | |
5 | g.128338106T>C | CA446310728 | FBN2 | n.273A>G n.354A>G c.3489A>G (p.Glu1163=) c.39A>G (p.Glu13=) c.3390A>G (p.Glu1130=) c.3486A>G (p.Glu1162=) c.3336A>G (p.Glu1112=) | gnomAD v4 |
5 | g.128338106T>G | CA360759548 | FBN2 | n.273A>C n.354A>C c.3489A>C (p.Glu1163Asp) c.39A>C (p.Glu13Asp) c.3390A>C (p.Glu1130Asp) c.3486A>C (p.Glu1162Asp) c.3336A>C (p.Glu1112Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128338106T= | CA1581270757 | FBN2 | n.273A= n.354A= c.3489A= (p.Glu1163=) c.39A= (p.Glu13=) c.3390A= (p.Glu1130=) c.3486A= (p.Glu1162=) c.3336A= (p.Glu1112=) | |
5 | g.128338107T>A | CA360759550 | FBN2 | n.272A>T n.353A>T c.3488A>T (p.Glu1163Val) c.38A>T (p.Glu13Val) c.3389A>T (p.Glu1130Val) c.3485A>T (p.Glu1162Val) c.3335A>T (p.Glu1112Val) | COSMIC COSMIC |
5 | g.128338107T>C | CA360759551 | FBN2 | n.272A>G n.353A>G c.3488A>G (p.Glu1163Gly) c.38A>G (p.Glu13Gly) c.3389A>G (p.Glu1130Gly) c.3485A>G (p.Glu1162Gly) c.3335A>G (p.Glu1112Gly) | |
5 | g.128338107T>G | CA360759552 | FBN2 | n.272A>C n.353A>C c.3488A>C (p.Glu1163Ala) c.38A>C (p.Glu13Ala) c.3389A>C (p.Glu1130Ala) c.3485A>C (p.Glu1162Ala) c.3335A>C (p.Glu1112Ala) | |
5 | g.128338108C>A | CA360759553 | FBN2 | n.271G>T n.352G>T c.3487G>T (p.Glu1163Ter) c.37G>T (p.Glu13Ter) c.3388G>T (p.Glu1130Ter) c.3484G>T (p.Glu1162Ter) c.3334G>T (p.Glu1112Ter) | |
5 | g.128338108C>G | CA360759554 | FBN2 | n.271G>C n.352G>C c.3487G>C (p.Glu1163Gln) c.37G>C (p.Glu13Gln) c.3388G>C (p.Glu1130Gln) c.3484G>C (p.Glu1162Gln) c.3334G>C (p.Glu1112Gln) | |
5 | g.128338108C>T | CA360759555 | FBN2 | n.271G>A n.352G>A c.3487G>A (p.Glu1163Lys) c.37G>A (p.Glu13Lys) c.3388G>A (p.Glu1130Lys) c.3484G>A (p.Glu1162Lys) c.3334G>A (p.Glu1112Lys) | |
5 | g.128338109A= | CA1581270758 | FBN2 | n.270T= n.351T= c.3486T= (p.Cys1162=) c.36T= (p.Cys12=) c.3387T= (p.Cys1129=) c.3483T= (p.Cys1161=) c.3333T= (p.Cys1111=) | |
5 | g.128338109A>C | CA360759557 | FBN2 | n.270T>G n.351T>G c.3486T>G (p.Cys1162Trp) c.36T>G (p.Cys12Trp) c.3387T>G (p.Cys1129Trp) c.3483T>G (p.Cys1161Trp) c.3333T>G (p.Cys1111Trp) | ClinVar dbSNP |
5 | g.128338109A>G | CA446310733 | FBN2 | n.270T>C n.351T>C c.3486T>C (p.Cys1162=) c.36T>C (p.Cys12=) c.3387T>C (p.Cys1129=) c.3483T>C (p.Cys1161=) c.3333T>C (p.Cys1111=) | |
5 | g.128338109A>T | CA360759558 | FBN2 | n.270T>A n.351T>A c.3486T>A (p.Cys1162Ter) c.36T>A (p.Cys12Ter) c.3387T>A (p.Cys1129Ter) c.3483T>A (p.Cys1161Ter) c.3333T>A (p.Cys1111Ter) | |
5 | g.128338110C>A | CA360759562 | FBN2 | n.269G>T n.350G>T c.3485G>T (p.Cys1162Phe) c.35G>T (p.Cys12Phe) c.3386G>T (p.Cys1129Phe) c.3482G>T (p.Cys1161Phe) c.3332G>T (p.Cys1111Phe) | |
5 | g.128338110C>G | CA360759563 | FBN2 | n.269G>C n.350G>C c.3485G>C (p.Cys1162Ser) c.35G>C (p.Cys12Ser) c.3386G>C (p.Cys1129Ser) c.3482G>C (p.Cys1161Ser) c.3332G>C (p.Cys1111Ser) | |
5 | g.128338110C>T | CA360759561 | FBN2 | n.269G>A n.350G>A c.3485G>A (p.Cys1162Tyr) c.35G>A (p.Cys12Tyr) c.3386G>A (p.Cys1129Tyr) c.3482G>A (p.Cys1161Tyr) c.3332G>A (p.Cys1111Tyr) | |
5 | g.128338111A= | CA1581270759 | FBN2 | n.268T= n.349T= c.3484T= (p.Cys1162=) c.34T= (p.Cys12=) c.3385T= (p.Cys1129=) c.3481T= (p.Cys1161=) c.3331T= (p.Cys1111=) | |
5 | g.128338111A>C | CA360759564 | FBN2 | n.268T>G n.349T>G c.3484T>G (p.Cys1162Gly) c.34T>G (p.Cys12Gly) c.3385T>G (p.Cys1129Gly) c.3481T>G (p.Cys1161Gly) c.3331T>G (p.Cys1111Gly) | |
5 | g.128338111A>G | CA360759566 | FBN2 | n.268T>C n.349T>C c.3484T>C (p.Cys1162Arg) c.34T>C (p.Cys12Arg) c.3385T>C (p.Cys1129Arg) c.3481T>C (p.Cys1161Arg) c.3331T>C (p.Cys1111Arg) | ClinVar dbSNP |
5 | g.128338111A>T | CA360759568 | FBN2 | n.268T>A n.349T>A c.3484T>A (p.Cys1162Ser) c.34T>A (p.Cys12Ser) c.3385T>A (p.Cys1129Ser) c.3481T>A (p.Cys1161Ser) c.3331T>A (p.Cys1111Ser) | |
5 | g.128338112T>A | CA360759570 | FBN2 | n.267A>T n.348A>T c.3483A>T (p.Glu1161Asp) c.33A>T (p.Glu11Asp) c.3384A>T (p.Glu1128Asp) c.3480A>T (p.Glu1160Asp) c.3330A>T (p.Glu1110Asp) | |
5 | g.128338112T>C | CA3395211 | FBN2 | n.267A>G n.348A>G c.3483A>G (p.Glu1161=) c.33A>G (p.Glu11=) c.3384A>G (p.Glu1128=) c.3480A>G (p.Glu1160=) c.3330A>G (p.Glu1110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338112T>G | CA360759574 | FBN2 | n.267A>C n.348A>C c.3483A>C (p.Glu1161Asp) c.33A>C (p.Glu11Asp) c.3384A>C (p.Glu1128Asp) c.3480A>C (p.Glu1160Asp) c.3330A>C (p.Glu1110Asp) | |
5 | g.128338112T= | CA1581270760 | FBN2 | n.267A= n.348A= c.3483A= (p.Glu1161=) c.33A= (p.Glu11=) c.3384A= (p.Glu1128=) c.3480A= (p.Glu1160=) c.3330A= (p.Glu1110=) | |
5 | g.128338113dup | CA2675117527 | FBN2 | n.267dup n.348dup c.3483dup (p.Cys1162MetfsTer2) c.33dup (p.Cys12MetfsTer2) c.3384dup (p.Cys1129MetfsTer2) c.3480dup (p.Cys1161MetfsTer2) c.3330dup (p.Cys1111MetfsTer2) | gnomAD v4 |
5 | g.128338113T>A | CA360759576 | FBN2 | n.266A>T n.347A>T c.3482A>T (p.Glu1161Val) c.32A>T (p.Glu11Val) c.3383A>T (p.Glu1128Val) c.3479A>T (p.Glu1160Val) c.3329A>T (p.Glu1110Val) | |
5 | g.128338113T>C | CA360759578 | FBN2 | n.266A>G n.347A>G c.3482A>G (p.Glu1161Gly) c.32A>G (p.Glu11Gly) c.3383A>G (p.Glu1128Gly) c.3479A>G (p.Glu1160Gly) c.3329A>G (p.Glu1110Gly) | ClinVar |
5 | g.128338113T>G | CA360759579 | FBN2 | n.266A>C n.347A>C c.3482A>C (p.Glu1161Ala) c.32A>C (p.Glu11Ala) c.3383A>C (p.Glu1128Ala) c.3479A>C (p.Glu1160Ala) c.3329A>C (p.Glu1110Ala) | |
5 | g.128338114C>A | CA360759582 | FBN2 | n.265G>T n.346G>T c.3481G>T (p.Glu1161Ter) c.31G>T (p.Glu11Ter) c.3382G>T (p.Glu1128Ter) c.3478G>T (p.Glu1160Ter) c.3328G>T (p.Glu1110Ter) | gnomAD v4 |
5 | g.128338114C= | CA1581270761 | FBN2 | n.265G= n.346G= c.3481G= (p.Glu1161=) c.31G= (p.Glu11=) c.3382G= (p.Glu1128=) c.3478G= (p.Glu1160=) c.3328G= (p.Glu1110=) | |
5 | g.128338114C>G | CA360759584 | FBN2 | n.265G>C n.346G>C c.3481G>C (p.Glu1161Gln) c.31G>C (p.Glu11Gln) c.3382G>C (p.Glu1128Gln) c.3478G>C (p.Glu1160Gln) c.3328G>C (p.Glu1110Gln) | |
5 | g.128338114C>T | CA360759585 | FBN2 | n.265G>A n.346G>A c.3481G>A (p.Glu1161Lys) c.31G>A (p.Glu11Lys) c.3382G>A (p.Glu1128Lys) c.3478G>A (p.Glu1160Lys) c.3328G>A (p.Glu1110Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
5 | g.128338115G>A | CA3395212 | FBN2 | n.264C>T n.345C>T c.3480C>T (p.Asp1160=) c.30C>T (p.Asp10=) c.3381C>T (p.Asp1127=) c.3477C>T (p.Asp1159=) c.3327C>T (p.Asp1109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128338115G>C | CA360759588 | FBN2 | n.264C>G n.345C>G c.3480C>G (p.Asp1160Glu) c.30C>G (p.Asp10Glu) c.3381C>G (p.Asp1127Glu) c.3477C>G (p.Asp1159Glu) c.3327C>G (p.Asp1109Glu) | |
5 | g.128338115G= | CA1581270762 | FBN2 | n.264C= n.345C= c.3480C= (p.Asp1160=) c.30C= (p.Asp10=) c.3381C= (p.Asp1127=) c.3477C= (p.Asp1159=) c.3327C= (p.Asp1109=) | |
5 | g.128338115G>T | CA127014943 | FBN2 | n.264C>A n.345C>A c.3480C>A (p.Asp1160Glu) c.30C>A (p.Asp10Glu) c.3381C>A (p.Asp1127Glu) c.3477C>A (p.Asp1159Glu) c.3327C>A (p.Asp1109Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338116T>A | CA360759590 | FBN2 | n.263A>T n.344A>T c.3479A>T (p.Asp1160Val) c.29A>T (p.Asp10Val) c.3380A>T (p.Asp1127Val) c.3476A>T (p.Asp1159Val) c.3326A>T (p.Asp1109Val) | |
5 | g.128338116T>C | CA360759592 | FBN2 | n.263A>G n.344A>G c.3479A>G (p.Asp1160Gly) c.29A>G (p.Asp10Gly) c.3380A>G (p.Asp1127Gly) c.3476A>G (p.Asp1159Gly) c.3326A>G (p.Asp1109Gly) | |
5 | g.128338116T>G | CA360759594 | FBN2 | n.263A>C n.344A>C c.3479A>C (p.Asp1160Ala) c.29A>C (p.Asp10Ala) c.3380A>C (p.Asp1127Ala) c.3476A>C (p.Asp1159Ala) c.3326A>C (p.Asp1109Ala) | |
5 | g.128338117C>A | CA360759595 | FBN2 | n.262G>T n.343G>T c.3478G>T (p.Asp1160Tyr) c.28G>T (p.Asp10Tyr) c.3379G>T (p.Asp1127Tyr) c.3475G>T (p.Asp1159Tyr) c.3325G>T (p.Asp1109Tyr) | |
5 | g.128338117C>G | CA360759597 | FBN2 | n.262G>C n.343G>C c.3478G>C (p.Asp1160His) c.28G>C (p.Asp10His) c.3379G>C (p.Asp1127His) c.3475G>C (p.Asp1159His) c.3325G>C (p.Asp1109His) | |
5 | g.128338117C>T | CA360759598 | FBN2 | n.262G>A n.343G>A c.3478G>A (p.Asp1160Asn) c.28G>A (p.Asp10Asn) c.3379G>A (p.Asp1127Asn) c.3475G>A (p.Asp1159Asn) c.3325G>A (p.Asp1109Asn) | |
5 | g.128338118A= | CA1581270763 | FBN2 | n.261T= n.342T= c.3477T= (p.Ile1159=) c.27T= (p.Ile9=) c.3378T= (p.Ile1126=) c.3474T= (p.Ile1158=) c.3324T= (p.Ile1108=) | |
5 | g.128338118A>C | CA3395213 | FBN2 | n.261T>G n.342T>G c.3477T>G (p.Ile1159Met) c.27T>G (p.Ile9Met) c.3378T>G (p.Ile1126Met) c.3474T>G (p.Ile1158Met) c.3324T>G (p.Ile1108Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128338118A>G | CA446310743 | FBN2 | n.261T>C n.342T>C c.3477T>C (p.Ile1159=) c.27T>C (p.Ile9=) c.3378T>C (p.Ile1126=) c.3474T>C (p.Ile1158=) c.3324T>C (p.Ile1108=) | gnomAD v4 |
5 | g.128338118A>T | CA446310744 | FBN2 | n.261T>A n.342T>A c.3477T>A (p.Ile1159=) c.27T>A (p.Ile9=) c.3378T>A (p.Ile1126=) c.3474T>A (p.Ile1158=) c.3324T>A (p.Ile1108=) | |
5 | g.128338119A= | CA1581270764 | FBN2 | n.260T= n.341T= c.3476T= (p.Ile1159=) c.26T= (p.Ile9=) c.3377T= (p.Ile1126=) c.3473T= (p.Ile1158=) c.3323T= (p.Ile1108=) | |
5 | g.128338119A>C | CA360759601 | FBN2 | n.260T>G n.341T>G c.3476T>G (p.Ile1159Ser) c.26T>G (p.Ile9Ser) c.3377T>G (p.Ile1126Ser) c.3473T>G (p.Ile1158Ser) c.3323T>G (p.Ile1108Ser) | |
5 | g.128338119A>G | CA3395214 | FBN2 | n.260T>C n.341T>C c.3476T>C (p.Ile1159Thr) c.26T>C (p.Ile9Thr) c.3377T>C (p.Ile1126Thr) c.3473T>C (p.Ile1158Thr) c.3323T>C (p.Ile1108Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338119A>T | CA360759604 | FBN2 | n.260T>A n.341T>A c.3476T>A (p.Ile1159Asn) c.26T>A (p.Ile9Asn) c.3377T>A (p.Ile1126Asn) c.3473T>A (p.Ile1158Asn) c.3323T>A (p.Ile1108Asn) | COSMIC COSMIC |
5 | g.128338120T>A | CA360759605 | FBN2 | n.259A>T n.340A>T c.3475A>T (p.Ile1159Phe) c.25A>T (p.Ile9Phe) c.3376A>T (p.Ile1126Phe) c.3472A>T (p.Ile1158Phe) c.3322A>T (p.Ile1108Phe) | ClinVar dbSNP |
5 | g.128338120T>C | CA3395215 | FBN2 | n.259A>G n.340A>G c.3475A>G (p.Ile1159Val) c.25A>G (p.Ile9Val) c.3376A>G (p.Ile1126Val) c.3472A>G (p.Ile1158Val) c.3322A>G (p.Ile1108Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128338120T>G | CA360759608 | FBN2 | n.259A>C n.340A>C c.3475A>C (p.Ile1159Leu) c.25A>C (p.Ile9Leu) c.3376A>C (p.Ile1126Leu) c.3472A>C (p.Ile1158Leu) c.3322A>C (p.Ile1108Leu) | |
5 | g.128338120T= | CA1581270765 | FBN2 | n.259A= n.340A= c.3475A= (p.Ile1159=) c.25A= (p.Ile9=) c.3376A= (p.Ile1126=) c.3472A= (p.Ile1158=) c.3322A= (p.Ile1108=) | |
5 | g.128338121G>A | CA446310745 | FBN2 | n.258C>T n.339C>T c.3474C>T (p.Asp1158=) c.24C>T (p.Asp8=) c.3375C>T (p.Asp1125=) c.3471C>T (p.Asp1157=) c.3321C>T (p.Asp1107=) | ClinVar gnomAD v4 |
5 | g.128338121G>C | CA360759612 | FBN2 | n.258C>G n.339C>G c.3474C>G (p.Asp1158Glu) c.24C>G (p.Asp8Glu) c.3375C>G (p.Asp1125Glu) c.3471C>G (p.Asp1157Glu) c.3321C>G (p.Asp1107Glu) | |
5 | g.128338121G>T | CA360759609 | FBN2 | n.258C>A n.339C>A c.3474C>A (p.Asp1158Glu) c.24C>A (p.Asp8Glu) c.3375C>A (p.Asp1125Glu) c.3471C>A (p.Asp1157Glu) c.3321C>A (p.Asp1107Glu) | |
5 | g.128338122T>A | CA360759615 | FBN2 | n.257A>T n.338A>T c.3473A>T (p.Asp1158Val) c.23A>T (p.Asp8Val) c.3374A>T (p.Asp1125Val) c.3470A>T (p.Asp1157Val) c.3320A>T (p.Asp1107Val) | |
5 | g.128338122T>C | CA360759618 | FBN2 | n.257A>G n.338A>G c.3473A>G (p.Asp1158Gly) c.23A>G (p.Asp8Gly) c.3374A>G (p.Asp1125Gly) c.3470A>G (p.Asp1157Gly) c.3320A>G (p.Asp1107Gly) | |
5 | g.128338122T>G | CA360759617 | FBN2 | n.257A>C n.338A>C c.3473A>C (p.Asp1158Ala) c.23A>C (p.Asp8Ala) c.3374A>C (p.Asp1125Ala) c.3470A>C (p.Asp1157Ala) c.3320A>C (p.Asp1107Ala) | |
5 | g.128338123C>A | CA360759621 | FBN2 | n.257-1G>T n.338-1G>T c.3473-1G>T (n.3473-1G>T) c.23-1G>T (n.23-1G>T) c.3374-1G>T (n.3374-1G>T) c.3470-1G>T (n.3470-1G>T) c.3320-1G>T (n.3320-1G>T) | gnomAD v4 |
5 | g.128338123C>G | CA360759623 | FBN2 | n.257-1G>C n.338-1G>C c.3473-1G>C (n.3473-1G>C) c.23-1G>C (n.23-1G>C) c.3374-1G>C (n.3374-1G>C) c.3470-1G>C (n.3470-1G>C) c.3320-1G>C (n.3320-1G>C) | ClinVar dbSNP |
5 | g.128338123C>T | CA360759624 | FBN2 | n.257-1G>A n.338-1G>A c.3473-1G>A (n.3473-1G>A) c.23-1G>A (n.23-1G>A) c.3374-1G>A (n.3374-1G>A) c.3470-1G>A (n.3470-1G>A) c.3320-1G>A (n.3320-1G>A) | |
5 | g.128338124T>A | CA360759627 | FBN2 | n.257-2A>T n.338-2A>T c.3473-2A>T (n.3473-2A>T) c.23-2A>T (n.23-2A>T) c.3374-2A>T (n.3374-2A>T) c.3470-2A>T (n.3470-2A>T) c.3320-2A>T (n.3320-2A>T) | |
5 | g.128338124T>C | CA360759629 | FBN2 | n.257-2A>G n.338-2A>G c.3473-2A>G (n.3473-2A>G) c.23-2A>G (n.23-2A>G) c.3374-2A>G (n.3374-2A>G) c.3470-2A>G (n.3470-2A>G) c.3320-2A>G (n.3320-2A>G) | gnomAD v4 |
5 | g.128338124T>G | CA360759630 | FBN2 | n.257-2A>C n.338-2A>C c.3473-2A>C (n.3473-2A>C) c.23-2A>C (n.23-2A>C) c.3374-2A>C (n.3374-2A>C) c.3470-2A>C (n.3470-2A>C) c.3320-2A>C (n.3320-2A>C) | |
5 | g.128338126A>C | CA2768335974 | FBN2 | n.257-4T>G n.338-4T>G c.3473-4T>G (n.3473-4T>G) c.23-4T>G (n.23-4T>G) c.3374-4T>G (n.3374-4T>G) c.3470-4T>G (n.3470-4T>G) c.3320-4T>G (n.3320-4T>G) | |
5 | g.128338128A>G | CA2709958145 | FBN2 | n.257-6T>C n.338-6T>C c.3473-6T>C (n.3473-6T>C) c.23-6T>C (n.23-6T>C) c.3374-6T>C (n.3374-6T>C) c.3470-6T>C (n.3470-6T>C) c.3320-6T>C (n.3320-6T>C) | dbSNP |
5 | g.128338129G>A | CA1581270766 | FBN2 | n.257-7C>T n.338-7C>T c.3473-7C>T (n.3473-7C>T) c.23-7C>T (n.23-7C>T) c.3374-7C>T (n.3374-7C>T) c.3470-7C>T (n.3470-7C>T) c.3320-7C>T (n.3320-7C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128338129G>C | CA2578444150 | FBN2 | n.257-7C>G n.338-7C>G c.3473-7C>G (n.3473-7C>G) c.23-7C>G (n.23-7C>G) c.3374-7C>G (n.3374-7C>G) c.3470-7C>G (n.3470-7C>G) c.3320-7C>G (n.3320-7C>G) | gnomAD v4 |
5 | g.128338129G= | CA1581270767 | FBN2 | n.257-7C= n.338-7C= c.3473-7C= (n.3473-7C=) c.23-7C= (n.23-7C=) c.3374-7C= (n.3374-7C=) c.3470-7C= (n.3470-7C=) c.3320-7C= (n.3320-7C=) | |
5 | g.128338130G>A | CA2604174352 | FBN2 | n.257-8C>T n.338-8C>T c.3473-8C>T (n.3473-8C>T) c.23-8C>T (n.23-8C>T) c.3374-8C>T (n.3374-8C>T) c.3470-8C>T (n.3470-8C>T) c.3320-8C>T (n.3320-8C>T) | gnomAD v3 gnomAD v4 |
5 | g.128338131_128338133delinsTAA | CA1581270768 | FBN2 | n.257-11_257-9delinsTTA n.338-11_338-9delinsTTA c.3473-11_3473-9delinsTTA (n.3473-11_3473-9delinsTTA) c.23-11_23-9delinsTTA (n.23-11_23-9delinsTTA) c.3374-11_3374-9delinsTTA (n.3374-11_3374-9delinsTTA) c.3470-11_3470-9delinsTTA (n.3470-11_3470-9delinsTTA) c.3320-11_3320-9delinsTTA (n.3320-11_3320-9delinsTTA) | |
5 | g.128338135_128338136del | CA915203017 | FBN2 | n.257-11_257-10del n.338-11_338-10del c.3473-11_3473-10del (n.3473-11_3473-10del) c.23-11_23-10del (n.23-11_23-10del) c.3374-11_3374-10del (n.3374-11_3374-10del) c.3470-11_3470-10del (n.3470-11_3470-10del) c.3320-11_3320-10del (n.3320-11_3320-10del) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128338136A>C | CA2675117528 | FBN2 | n.257-14T>G n.338-14T>G c.3473-14T>G (n.3473-14T>G) c.23-14T>G (n.23-14T>G) c.3374-14T>G (n.3374-14T>G) c.3470-14T>G (n.3470-14T>G) c.3320-14T>G (n.3320-14T>G) | gnomAD v4 |
5 | g.128338137C>A | CA2675117529 | FBN2 | n.257-15G>T n.338-15G>T c.3473-15G>T (n.3473-15G>T) c.23-15G>T (n.23-15G>T) c.3374-15G>T (n.3374-15G>T) c.3470-15G>T (n.3470-15G>T) c.3320-15G>T (n.3320-15G>T) | gnomAD v4 |
5 | g.128338137C= | CA1581270769 | FBN2 | n.257-15G= n.338-15G= c.3473-15G= (n.3473-15G=) c.23-15G= (n.23-15G=) c.3374-15G= (n.3374-15G=) c.3470-15G= (n.3470-15G=) c.3320-15G= (n.3320-15G=) | |
5 | g.128338137C>T | CA3395216 | FBN2 | n.257-15G>A n.338-15G>A c.3473-15G>A (n.3473-15G>A) c.23-15G>A (n.23-15G>A) c.3374-15G>A (n.3374-15G>A) c.3470-15G>A (n.3470-15G>A) c.3320-15G>A (n.3320-15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338138G>A | CA3395217 | FBN2 | n.257-16C>T n.338-16C>T c.3473-16C>T (n.3473-16C>T) c.23-16C>T (n.23-16C>T) c.3374-16C>T (n.3374-16C>T) c.3470-16C>T (n.3470-16C>T) c.3320-16C>T (n.3320-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338138G= | CA1581270770 | FBN2 | n.257-16C= n.338-16C= c.3473-16C= (n.3473-16C=) c.23-16C= (n.23-16C=) c.3374-16C= (n.3374-16C=) c.3470-16C= (n.3470-16C=) c.3320-16C= (n.3320-16C=) | |
5 | g.128338139T>A | CA3395218 | FBN2 | n.257-17A>T n.338-17A>T c.3473-17A>T (n.3473-17A>T) c.23-17A>T (n.23-17A>T) c.3374-17A>T (n.3374-17A>T) c.3470-17A>T (n.3470-17A>T) c.3320-17A>T (n.3320-17A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338139T>G | CA2675117530 | FBN2 | n.257-17A>C n.338-17A>C c.3473-17A>C (n.3473-17A>C) c.23-17A>C (n.23-17A>C) c.3374-17A>C (n.3374-17A>C) c.3470-17A>C (n.3470-17A>C) c.3320-17A>C (n.3320-17A>C) | gnomAD v4 |
5 | g.128338139T= | CA1581270771 | FBN2 | n.257-17A= n.338-17A= c.3473-17A= (n.3473-17A=) c.23-17A= (n.23-17A=) c.3374-17A= (n.3374-17A=) c.3470-17A= (n.3470-17A=) c.3320-17A= (n.3320-17A=) | |
5 | g.128338141A= | CA1581270772 | FBN2 | n.257-19T= n.338-19T= c.3473-19T= (n.3473-19T=) c.23-19T= (n.23-19T=) c.3374-19T= (n.3374-19T=) c.3470-19T= (n.3470-19T=) c.3320-19T= (n.3320-19T=) | |
5 | g.128338141A>G | CA1581270773 | FBN2 | n.257-19T>C n.338-19T>C c.3473-19T>C (n.3473-19T>C) c.23-19T>C (n.23-19T>C) c.3374-19T>C (n.3374-19T>C) c.3470-19T>C (n.3470-19T>C) c.3320-19T>C (n.3320-19T>C) | dbSNP gnomAD v4 |
5 | g.128338142G>A | CA2675117531 | FBN2 | n.257-20C>T n.338-20C>T c.3473-20C>T (n.3473-20C>T) c.23-20C>T (n.23-20C>T) c.3374-20C>T (n.3374-20C>T) c.3470-20C>T (n.3470-20C>T) c.3320-20C>T (n.3320-20C>T) | gnomAD v4 |
5 | g.128338143A>G | CA2553044993 | FBN2 | n.257-21T>C n.338-21T>C c.3473-21T>C (n.3473-21T>C) c.23-21T>C (n.23-21T>C) c.3374-21T>C (n.3374-21T>C) c.3470-21T>C (n.3470-21T>C) c.3320-21T>C (n.3320-21T>C) | |
5 | g.128338143A>T | CA2675117532 | FBN2 | n.257-21T>A n.338-21T>A c.3473-21T>A (n.3473-21T>A) c.23-21T>A (n.23-21T>A) c.3374-21T>A (n.3374-21T>A) c.3470-21T>A (n.3470-21T>A) c.3320-21T>A (n.3320-21T>A) | gnomAD v4 |
5 | g.128338144T>C | CA562715862 | FBN2 | n.257-22A>G n.338-22A>G c.3473-22A>G (n.3473-22A>G) c.23-22A>G (n.23-22A>G) c.3374-22A>G (n.3374-22A>G) c.3470-22A>G (n.3470-22A>G) c.3320-22A>G (n.3320-22A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128338144T>G | CA2578444151 | FBN2 | n.257-22A>C n.338-22A>C c.3473-22A>C (n.3473-22A>C) c.23-22A>C (n.23-22A>C) c.3374-22A>C (n.3374-22A>C) c.3470-22A>C (n.3470-22A>C) c.3320-22A>C (n.3320-22A>C) | |
5 | g.128338144T= | CA1581270774 | FBN2 | n.257-22A= n.338-22A= c.3473-22A= (n.3473-22A=) c.23-22A= (n.23-22A=) c.3374-22A= (n.3374-22A=) c.3470-22A= (n.3470-22A=) c.3320-22A= (n.3320-22A=) | |
5 | g.128338146C>A | CA562715863 | FBN2 | n.257-24G>T n.338-24G>T c.3473-24G>T (n.3473-24G>T) c.23-24G>T (n.23-24G>T) c.3374-24G>T (n.3374-24G>T) c.3470-24G>T (n.3470-24G>T) c.3320-24G>T (n.3320-24G>T) | dbSNP gnomAD v2 |
5 | g.128338146C= | CA1581270775 | FBN2 | n.257-24G= n.338-24G= c.3473-24G= (n.3473-24G=) c.23-24G= (n.23-24G=) c.3374-24G= (n.3374-24G=) c.3470-24G= (n.3470-24G=) c.3320-24G= (n.3320-24G=) | |
5 | g.128338146C>T | CA562715864 | FBN2 | n.257-24G>A n.338-24G>A c.3473-24G>A (n.3473-24G>A) c.23-24G>A (n.23-24G>A) c.3374-24G>A (n.3374-24G>A) c.3470-24G>A (n.3470-24G>A) c.3320-24G>A (n.3320-24G>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128338147A>G | CA2675117533 | FBN2 | n.257-25T>C n.338-25T>C c.3473-25T>C (n.3473-25T>C) c.23-25T>C (n.23-25T>C) c.3374-25T>C (n.3374-25T>C) c.3470-25T>C (n.3470-25T>C) c.3320-25T>C (n.3320-25T>C) | gnomAD v4 |
5 | g.128338149T>G | CA3395219 | FBN2 | n.257-27A>C n.338-27A>C c.3473-27A>C (n.3473-27A>C) c.23-27A>C (n.23-27A>C) c.3374-27A>C (n.3374-27A>C) c.3470-27A>C (n.3470-27A>C) c.3320-27A>C (n.3320-27A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128338149T= | CA1581270776 | FBN2 | n.257-27A= n.338-27A= c.3473-27A= (n.3473-27A=) c.23-27A= (n.23-27A=) c.3374-27A= (n.3374-27A=) c.3470-27A= (n.3470-27A=) c.3320-27A= (n.3320-27A=) | |
5 | g.128338150A= | CA1581270777 | FBN2 | n.257-28T= n.338-28T= c.3473-28T= (n.3473-28T=) c.23-28T= (n.23-28T=) c.3374-28T= (n.3374-28T=) c.3470-28T= (n.3470-28T=) c.3320-28T= (n.3320-28T=) | |
5 | g.128338150A>G | CA1581270778 | FBN2 | n.257-28T>C n.338-28T>C c.3473-28T>C (n.3473-28T>C) c.23-28T>C (n.23-28T>C) c.3374-28T>C (n.3374-28T>C) c.3470-28T>C (n.3470-28T>C) c.3320-28T>C (n.3320-28T>C) | dbSNP gnomAD v4 |
5 | g.128338151A= | CA1581270779 | FBN2 | n.257-29T= n.338-29T= c.3473-29T= (n.3473-29T=) c.23-29T= (n.23-29T=) c.3374-29T= (n.3374-29T=) c.3470-29T= (n.3470-29T=) c.3320-29T= (n.3320-29T=) | |
5 | g.128338151A>G | CA1581270780 | FBN2 | n.257-29T>C n.338-29T>C c.3473-29T>C (n.3473-29T>C) c.23-29T>C (n.23-29T>C) c.3374-29T>C (n.3374-29T>C) c.3470-29T>C (n.3470-29T>C) c.3320-29T>C (n.3320-29T>C) | dbSNP gnomAD v4 |
5 | g.128338152A= | CA1581270781 | FBN2 | n.257-30T= n.338-30T= c.3473-30T= (n.3473-30T=) c.23-30T= (n.23-30T=) c.3374-30T= (n.3374-30T=) c.3470-30T= (n.3470-30T=) c.3320-30T= (n.3320-30T=) | |
5 | g.128338152A>G | CA3395220 | FBN2 | n.257-30T>C n.338-30T>C c.3473-30T>C (n.3473-30T>C) c.23-30T>C (n.23-30T>C) c.3374-30T>C (n.3374-30T>C) c.3470-30T>C (n.3470-30T>C) c.3320-30T>C (n.3320-30T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128338153G>A | CA2675117534 | FBN2 | n.257-31C>T n.338-31C>T c.3473-31C>T (n.3473-31C>T) c.23-31C>T (n.23-31C>T) c.3374-31C>T (n.3374-31C>T) c.3470-31C>T (n.3470-31C>T) c.3320-31C>T (n.3320-31C>T) | gnomAD v4 |
5 | g.128338154A= | CA1581270782 | FBN2 | n.257-32T= n.338-32T= c.3473-32T= (n.3473-32T=) c.23-32T= (n.23-32T=) c.3374-32T= (n.3374-32T=) c.3470-32T= (n.3470-32T=) c.3320-32T= (n.3320-32T=) | |
5 | g.128338154A>G | CA3395222 | FBN2 | n.257-32T>C n.338-32T>C c.3473-32T>C (n.3473-32T>C) c.23-32T>C (n.23-32T>C) c.3374-32T>C (n.3374-32T>C) c.3470-32T>C (n.3470-32T>C) c.3320-32T>C (n.3320-32T>C) | dbSNP ExAC |
5 | g.128338154A>T | CA3395221 | FBN2 | n.257-32T>A n.338-32T>A c.3473-32T>A (n.3473-32T>A) c.23-32T>A (n.23-32T>A) c.3374-32T>A (n.3374-32T>A) c.3470-32T>A (n.3470-32T>A) c.3320-32T>A (n.3320-32T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.128338156C>T | CA2675117535 | FBN2 | n.257-34G>A n.338-34G>A c.3473-34G>A (n.3473-34G>A) c.23-34G>A (n.23-34G>A) c.3374-34G>A (n.3374-34G>A) c.3470-34G>A (n.3470-34G>A) c.3320-34G>A (n.3320-34G>A) | gnomAD v4 |
5 | g.128338157T>G | CA3395223 | FBN2 | n.257-35A>C n.338-35A>C c.3473-35A>C (n.3473-35A>C) c.23-35A>C (n.23-35A>C) c.3374-35A>C (n.3374-35A>C) c.3470-35A>C (n.3470-35A>C) c.3320-35A>C (n.3320-35A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128338157T= | CA1581270783 | FBN2 | n.257-35A= n.338-35A= c.3473-35A= (n.3473-35A=) c.23-35A= (n.23-35A=) c.3374-35A= (n.3374-35A=) c.3470-35A= (n.3470-35A=) c.3320-35A= (n.3320-35A=) | |
5 | g.128338158C>T | CA2675117536 | FBN2 | n.257-36G>A n.338-36G>A c.3473-36G>A (n.3473-36G>A) c.23-36G>A (n.23-36G>A) c.3374-36G>A (n.3374-36G>A) c.3470-36G>A (n.3470-36G>A) c.3320-36G>A (n.3320-36G>A) | gnomAD v4 |
5 | g.128338159T>C | CA2675117537 | FBN2 | n.257-37A>G n.338-37A>G c.3473-37A>G (n.3473-37A>G) c.23-37A>G (n.23-37A>G) c.3374-37A>G (n.3374-37A>G) c.3470-37A>G (n.3470-37A>G) c.3320-37A>G (n.3320-37A>G) | gnomAD v4 |
5 | g.128338159T>G | CA2675117538 | FBN2 | n.257-37A>C n.338-37A>C c.3473-37A>C (n.3473-37A>C) c.23-37A>C (n.23-37A>C) c.3374-37A>C (n.3374-37A>C) c.3470-37A>C (n.3470-37A>C) c.3320-37A>C (n.3320-37A>C) | gnomAD v4 |
5 | g.128338160G>A | CA1081360316 | FBN2 | n.257-38C>T n.338-38C>T c.3473-38C>T (n.3473-38C>T) c.23-38C>T (n.23-38C>T) c.3374-38C>T (n.3374-38C>T) c.3470-38C>T (n.3470-38C>T) c.3320-38C>T (n.3320-38C>T) | dbSNP |
5 | g.128338160G= | CA1581270784 | FBN2 | n.257-38C= n.338-38C= c.3473-38C= (n.3473-38C=) c.23-38C= (n.23-38C=) c.3374-38C= (n.3374-38C=) c.3470-38C= (n.3470-38C=) c.3320-38C= (n.3320-38C=) | |
5 | g.128338162G>A | CA2675117539 | FBN2 | n.257-40C>T n.338-40C>T c.3473-40C>T (n.3473-40C>T) c.23-40C>T (n.23-40C>T) c.3374-40C>T (n.3374-40C>T) c.3470-40C>T (n.3470-40C>T) c.3320-40C>T (n.3320-40C>T) | gnomAD v4 |
5 | g.128338162G>T | CA2675117540 | FBN2 | n.257-40C>A n.338-40C>A c.3473-40C>A (n.3473-40C>A) c.23-40C>A (n.23-40C>A) c.3374-40C>A (n.3374-40C>A) c.3470-40C>A (n.3470-40C>A) c.3320-40C>A (n.3320-40C>A) | gnomAD v4 |
5 | g.128338163G>A | CA1581270786 | FBN2 | n.257-41C>T n.338-41C>T c.3473-41C>T (n.3473-41C>T) c.23-41C>T (n.23-41C>T) c.3374-41C>T (n.3374-41C>T) c.3470-41C>T (n.3470-41C>T) c.3320-41C>T (n.3320-41C>T) | dbSNP |
5 | g.128338163G= | CA1581270785 | FBN2 | n.257-41C= n.338-41C= c.3473-41C= (n.3473-41C=) c.23-41C= (n.23-41C=) c.3374-41C= (n.3374-41C=) c.3470-41C= (n.3470-41C=) c.3320-41C= (n.3320-41C=) | |
5 | g.128338163G>T | CA1581270787 | FBN2 | n.257-41C>A n.338-41C>A c.3473-41C>A (n.3473-41C>A) c.23-41C>A (n.23-41C>A) c.3374-41C>A (n.3374-41C>A) c.3470-41C>A (n.3470-41C>A) c.3320-41C>A (n.3320-41C>A) | dbSNP |
5 | g.128338164G>T | CA2675117541 | FBN2 | n.257-42C>A n.338-42C>A c.3473-42C>A (n.3473-42C>A) c.23-42C>A (n.23-42C>A) c.3374-42C>A (n.3374-42C>A) c.3470-42C>A (n.3470-42C>A) c.3320-42C>A (n.3320-42C>A) | gnomAD v4 |
5 | g.128338164_128338165delinsGA | CA1581270788 | FBN2 | n.257-43_257-42delinsTC n.338-43_338-42delinsTC c.3473-43_3473-42delinsTC (n.3473-43_3473-42delinsTC) c.23-43_23-42delinsTC (n.23-43_23-42delinsTC) c.3374-43_3374-42delinsTC (n.3374-43_3374-42delinsTC) c.3470-43_3470-42delinsTC (n.3470-43_3470-42delinsTC) c.3320-43_3320-42delinsTC (n.3320-43_3320-42delinsTC) | |
5 | g.128338165A= | CA1581270789 | FBN2 | n.257-43T= n.338-43T= c.3473-43T= (n.3473-43T=) c.23-43T= (n.23-43T=) c.3374-43T= (n.3374-43T=) c.3470-43T= (n.3470-43T=) c.3320-43T= (n.3320-43T=) | |
5 | g.128338165A>G | CA127014993 | FBN2 | n.257-43T>C n.338-43T>C c.3473-43T>C (n.3473-43T>C) c.23-43T>C (n.23-43T>C) c.3374-43T>C (n.3374-43T>C) c.3470-43T>C (n.3470-43T>C) c.3320-43T>C (n.3320-43T>C) | dbSNP |
5 | g.128338169del | CA360759642 | FBN2 | n.257-43del n.338-43del c.3473-43del (n.3473-43del) c.23-43del (n.23-43del) c.3374-43del (n.3374-43del) c.3470-43del (n.3470-43del) c.3320-43del (n.3320-43del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128338169A>G | CA2675117542 | FBN2 | n.257-47T>C n.338-47T>C c.3473-47T>C (n.3473-47T>C) c.23-47T>C (n.23-47T>C) c.3374-47T>C (n.3374-47T>C) c.3470-47T>C (n.3470-47T>C) c.3320-47T>C (n.3320-47T>C) | gnomAD v4 |