Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48520711G>A | CA490028488 | FBN1 | c.1095C>T (p.Cys365=) c.636+17000C>T (n.636+17000C>T) | gnomAD v4 |
15 | g.48520711G>C | CA392347389 | FBN1 | c.1095C>G (p.Cys365Trp) c.636+17000C>G (n.636+17000C>G) | |
15 | g.48520711G= | CA2175537501 | FBN1 | c.1095C= (p.Cys365=) c.636+17000C= (n.636+17000C=) | |
15 | g.48520711G>T | CA011950 | FBN1 | c.1095C>A (p.Cys365Ter) c.636+17000C>A (n.636+17000C>A) | ClinVar dbSNP |
15 | g.48520712C>A | CA392347401 | FBN1 | c.1094G>T (p.Cys365Phe) c.636+16999G>T (n.636+16999G>T) | |
15 | g.48520712C>G | CA392347395 | FBN1 | c.1094G>C (p.Cys365Ser) c.636+16999G>C (n.636+16999G>C) | |
15 | g.48520712C>T | CA392347398 | FBN1 | c.1094G>A (p.Cys365Tyr) c.636+16999G>A (n.636+16999G>A) | |
15 | g.48520713_48520715dup | CA2695220331 | FBN1 | c.1092_1094dup (p.Cys365Ter) c.636+16997_636+16999dup (n.636+16997_636+16999dup) | |
15 | g.48520713A>C | CA392347405 | FBN1 | c.1093T>G (p.Cys365Gly) c.636+16998T>G (n.636+16998T>G) | |
15 | g.48520713A>G | CA392347408 | FBN1 | c.1093T>C (p.Cys365Arg) c.636+16998T>C (n.636+16998T>C) | |
15 | g.48520713A>T | CA392347410 | FBN1 | c.1093T>A (p.Cys365Ser) c.636+16998T>A (n.636+16998T>A) | |
15 | g.48520714T>A | CA490028489 | FBN1 | c.1092A>T (p.Arg364=) c.636+16997A>T (n.636+16997A>T) | |
15 | g.48520714T>C | CA490028490 | FBN1 | c.1092A>G (p.Arg364=) c.636+16997A>G (n.636+16997A>G) | |
15 | g.48520714T>G | CA490028491 | FBN1 | c.1092A>C (p.Arg364=) c.636+16997A>C (n.636+16997A>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48520714T= | CA2175537506 | FBN1 | c.1092A= (p.Arg364=) c.636+16997A= (n.636+16997A=) | |
15 | g.48520715C>A | CA392347416 | FBN1 | c.1091G>T (p.Arg364Leu) c.636+16996G>T (n.636+16996G>T) | |
15 | g.48520715C= | CA2175537513 | FBN1 | c.1091G= (p.Arg364=) c.636+16996G= (n.636+16996G=) | |
15 | g.48520715C>G | CA011939 | FBN1 | c.1091G>C (p.Arg364Pro) c.636+16996G>C (n.636+16996G>C) | ClinVar dbSNP |
15 | g.48520715C>T | CA043494 | FBN1 | c.1091G>A (p.Arg364Gln) c.636+16996G>A (n.636+16996G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48520715_48520716delinsCG | CA2175537519 | FBN1 | c.1090_1091delinsCG (p.Arg364=) c.636+16995_636+16996delinsCG (n.636+16995_636+16996delinsCG) | |
15 | g.48520716G>A | CA011930 | FBN1 | c.1090C>T (p.Arg364Ter) c.636+16995C>T (n.636+16995C>T) | ClinVar dbSNP |
15 | g.48520716G>C | CA392347425 | FBN1 | c.1090C>G (p.Arg364Gly) c.636+16995C>G (n.636+16995C>G) | ClinVar dbSNP |
15 | g.48520716G= | CA2175537529 | FBN1 | c.1090C= (p.Arg364=) c.636+16995C= (n.636+16995C=) | |
15 | g.48520716G>T | CA490028492 | FBN1 | c.1090C>A (p.Arg364=) c.636+16995C>A (n.636+16995C>A) | |
15 | g.48520717del | CA1139663983 | FBN1 | c.1090del (p.Arg364AspfsTer?) c.636+16995del (n.636+16995del) | ClinVar dbSNP |
15 | g.48520717G>A | CA490028493 | FBN1 | c.1089C>T (p.Gly363=) c.636+16994C>T (n.636+16994C>T) | gnomAD v4 |
15 | g.48520717G>C | CA490028495 | FBN1 | c.1089C>G (p.Gly363=) c.636+16994C>G (n.636+16994C>G) | |
15 | g.48520717G= | CA2175537537 | FBN1 | c.1089C= (p.Gly363=) c.636+16994C= (n.636+16994C=) | |
15 | g.48520717G>T | CA490028494 | FBN1 | c.1089C>A (p.Gly363=) c.636+16994C>A (n.636+16994C>A) | ClinVar dbSNP |
15 | g.48520717_48520718delinsGC | CA2175537535 | FBN1 | c.1088_1089delinsGC (p.Gly363=) c.636+16993_636+16994delinsGC (n.636+16993_636+16994delinsGC) | |
15 | g.48520719_48520733del | CA2580089579 | FBN1 | c.1075_1089del (p.Cys359_Gly363del) c.636+16980_636+16994del (n.636+16980_636+16994del) | ClinVar |
15 | g.48520718C>A | CA392347430 | FBN1 | c.1088G>T (p.Gly363Val) c.636+16993G>T (n.636+16993G>T) | |
15 | g.48520718C>G | CA392347431 | FBN1 | c.1088G>C (p.Gly363Ala) c.636+16993G>C (n.636+16993G>C) | |
15 | g.48520718C>T | CA392347434 | FBN1 | c.1088G>A (p.Gly363Asp) c.636+16993G>A (n.636+16993G>A) | gnomAD v4 |
15 | g.48520719del | CA658683888 | FBN1 | c.1088del (p.Gly363AlafsTer?) c.636+16993del (n.636+16993del) | ClinVar dbSNP |
15 | g.48520719C>A | CA392347437 | FBN1 | c.1087G>T (p.Gly363Cys) c.636+16992G>T (n.636+16992G>T) | |
15 | g.48520719C= | CA2175537542 | FBN1 | c.1087G= (p.Gly363=) c.636+16992G= (n.636+16992G=) | |
15 | g.48520719C>G | CA392347441 | FBN1 | c.1087G>C (p.Gly363Arg) c.636+16992G>C (n.636+16992G>C) | gnomAD v4 |
15 | g.48520719C>T | CA043483 | FBN1 | c.1087G>A (p.Gly363Ser) c.636+16992G>A (n.636+16992G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48520720G>A | CA490028496 | FBN1 | c.1086C>T (p.Ala362=) c.636+16991C>T (n.636+16991C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48520720G>C | CA490028497 | FBN1 | c.1086C>G (p.Ala362=) c.636+16991C>G (n.636+16991C>G) | |
15 | g.48520720G= | CA2175537547 | FBN1 | c.1086C= (p.Ala362=) c.636+16991C= (n.636+16991C=) | |
15 | g.48520720G>T | CA490028498 | FBN1 | c.1086C>A (p.Ala362=) c.636+16991C>A (n.636+16991C>A) | |
15 | g.48520721_48520732del | CA2695220333 | FBN1 | c.1075_1086del (p.Cys359_Ala362del) c.636+16980_636+16991del (n.636+16980_636+16991del) | |
15 | g.48520721G>A | CA392347452 | FBN1 | c.1085C>T (p.Ala362Val) c.636+16990C>T (n.636+16990C>T) | ClinVar dbSNP gnomAD v4 |
15 | g.48520721G>C | CA392347447 | FBN1 | c.1085C>G (p.Ala362Gly) c.636+16990C>G (n.636+16990C>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48520721G= | CA2175537550 | FBN1 | c.1085C= (p.Ala362=) c.636+16990C= (n.636+16990C=) | |
15 | g.48520721G>T | CA392347450 | FBN1 | c.1085C>A (p.Ala362Asp) c.636+16990C>A (n.636+16990C>A) | |
15 | g.48520722C>A | CA392347456 | FBN1 | c.1084G>T (p.Ala362Ser) c.636+16989G>T (n.636+16989G>T) | |
15 | g.48520722C>G | CA392347459 | FBN1 | c.1084G>C (p.Ala362Pro) c.636+16989G>C (n.636+16989G>C) |