| 15 | g.48610725del | CA2575717751 | FBN1 | c.346+4del (n.346+4del)
| gnomAD v4 |
| 15 | g.48610725T>C | CA050750 | FBN1 | c.346+3A>G (n.346+3A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48610725T= | CA2175573512 | FBN1 | c.346+3A= (n.346+3A=)
| |
| 15 | g.48610726A>C | CA392446780 | FBN1 | c.346+2T>G (n.346+2T>G)
| |
| 15 | g.48610726A>G | CA392446782 | FBN1 | c.346+2T>C (n.346+2T>C)
| |
| 15 | g.48610726A>T | CA392446784 | FBN1 | c.346+2T>A (n.346+2T>A)
| |
| 15 | g.48610727C>A | CA392446786 | FBN1 | c.346+1G>T (n.346+1G>T)
| |
| 15 | g.48610727C>G | CA392446787 | FBN1 | c.346+1G>C (n.346+1G>C)
| |
| 15 | g.48610727C>T | CA392446789 | FBN1 | c.346+1G>A (n.346+1G>A)
| |
| 15 | g.48610728T>A | CA392446791 | FBN1 | c.346A>T (p.Ile116Leu)
| |
| 15 | g.48610728T>C | CA050871 | FBN1 | c.346A>G (p.Ile116Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48610728T>G | CA392446793 | FBN1 | c.346A>C (p.Ile116Leu)
| |
| 15 | g.48610728T= | CA2175573513 | FBN1 | c.346A= (p.Ile116=)
| |
| 15 | g.48610729G>A | CA490090164 | FBN1 | c.345C>T (p.Ser115=)
| ClinVar gnomAD v4 |
| 15 | g.48610729G>C | CA490090165 | FBN1 | c.345C>G (p.Ser115=)
| |
| 15 | g.48610729G>T | CA490090166 | FBN1 | c.345C>A (p.Ser115=)
| |
| 15 | g.48610730del | CA2695220682 | FBN1 | c.345del (p.Ile116TyrfsTer9)
| ClinVar |
| 15 | g.48610730G>A | CA392446799 | FBN1 | c.344C>T (p.Ser115Phe)
| |
| 15 | g.48610730G>C | CA392446797 | FBN1 | c.344C>G (p.Ser115Cys)
| |
| 15 | g.48610730G>T | CA392446795 | FBN1 | c.344C>A (p.Ser115Tyr)
| |
| 15 | g.48610731A>C | CA392446801 | FBN1 | c.343T>G (p.Ser115Ala)
| |
| 15 | g.48610731A>G | CA392446803 | FBN1 | c.343T>C (p.Ser115Pro)
| |
| 15 | g.48610731A>T | CA392446805 | FBN1 | c.343T>A (p.Ser115Thr)
| |
| 15 | g.48610732T>A | CA392446807 | FBN1 | c.342A>T (p.Arg114Ser)
| |
| 15 | g.48610732T>C | CA490090168 | FBN1 | c.342A>G (p.Arg114=)
| |
| 15 | g.48610732T>G | CA392446809 | FBN1 | c.342A>C (p.Arg114Ser)
| |
| 15 | g.48610733C>A | CA392446811 | FBN1 | c.341G>T (p.Arg114Ile)
| gnomAD v4 |
| 15 | g.48610733C= | CA2175573514 | FBN1 | c.341G= (p.Arg114=)
| |
| 15 | g.48610733C>G | CA270059024 | FBN1 | c.341G>C (p.Arg114Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48610733C>T | CA392446814 | FBN1 | c.341G>A (p.Arg114Lys)
| |
| 15 | g.48610734T>A | CA392446816 | FBN1 | c.340A>T (p.Arg114Ter)
| |
| 15 | g.48610734T>C | CA392446817 | FBN1 | c.340A>G (p.Arg114Gly)
| |
| 15 | g.48610734T>G | CA490090169 | FBN1 | c.340A>C (p.Arg114=)
| |
| 15 | g.48610735G>A | CA490090170 | FBN1 | c.339C>T (p.Ser113=)
| ClinVar |
| 15 | g.48610735G>C | CA490090171 | FBN1 | c.339C>G (p.Ser113=)
| |
| 15 | g.48610735G>T | CA490090172 | FBN1 | c.339C>A (p.Ser113=)
| |
| 15 | g.48610736G>A | CA392446820 | FBN1 | c.338C>T (p.Ser113Phe)
| dbSNP gnomAD v4 |
| 15 | g.48610736G>C | CA353680 | FBN1 | c.338C>G (p.Ser113Cys)
| ClinVar dbSNP |
| 15 | g.48610736G= | CA2175573515 | FBN1 | c.338C= (p.Ser113=)
| |
| 15 | g.48610736G>T | CA392446821 | FBN1 | c.338C>A (p.Ser113Tyr)
| dbSNP |
| 15 | g.48610737A= | CA2175573516 | FBN1 | c.337T= (p.Ser113=)
| |
| 15 | g.48610737A>C | CA392446825 | FBN1 | c.337T>G (p.Ser113Ala)
| |
| 15 | g.48610737A>G | CA392446827 | FBN1 | c.337T>C (p.Ser113Pro)
| |
| 15 | g.48610737A>T | CA392446824 | FBN1 | c.337T>A (p.Ser113Thr)
| |
| 15 | g.48610738G>A | CA490090173 | FBN1 | c.336C>T (p.Gly112=)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.48610738G>C | CA490090174 | FBN1 | c.336C>G (p.Gly112=)
| |
| 15 | g.48610738G= | CA2175573517 | FBN1 | c.336C= (p.Gly112=)
| |
| 15 | g.48610738G>T | CA490090175 | FBN1 | c.336C>A (p.Gly112=)
| |
| 15 | g.48610738dup | CA658656485 | FBN1 | c.336dup (p.Ser113LeufsTer16)
| ClinVar dbSNP |
| 15 | g.48610739C>A | CA392446831 | FBN1 | c.335G>T (p.Gly112Val)
| |
| 15 | g.48610739C>G | CA392446829 | FBN1 | c.335G>C (p.Gly112Ala)
| COSMIC |
| 15 | g.48610739C>T | CA392446832 | FBN1 | c.335G>A (p.Gly112Asp)
| |
| 15 | g.48610740C>A | CA392446834 | FBN1 | c.334G>T (p.Gly112Cys)
| |
| 15 | g.48610740C= | CA2175573518 | FBN1 | c.334G= (p.Gly112=)
| |
| 15 | g.48610740C>G | CA392446836 | FBN1 | c.334G>C (p.Gly112Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48610740C>T | CA392446837 | FBN1 | c.334G>A (p.Gly112Ser)
| |
| 15 | g.48610741A>C | CA392446839 | FBN1 | c.333T>G (p.Cys111Trp)
| |
| 15 | g.48610741A>G | CA490090176 | FBN1 | c.333T>C (p.Cys111=)
| |
| 15 | g.48610741A>T | CA392446841 | FBN1 | c.333T>A (p.Cys111Ter)
| |
| 15 | g.48610742C>A | CA392446843 | FBN1 | c.332G>T (p.Cys111Phe)
| |
| 15 | g.48610742C>G | CA392446845 | FBN1 | c.332G>C (p.Cys111Ser)
| COSMIC |
| 15 | g.48610742C>T | CA392446847 | FBN1 | c.332G>A (p.Cys111Tyr)
| |
| 15 | g.48610743A>C | CA392446849 | FBN1 | c.331T>G (p.Cys111Gly)
| |
| 15 | g.48610743A>G | CA392446851 | FBN1 | c.331T>C (p.Cys111Arg)
| ClinVar COSMIC |
| 15 | g.48610743A>T | CA392446852 | FBN1 | c.331T>A (p.Cys111Ser)
| |
| 15 | g.48610744G>A | CA490090178 | FBN1 | c.330C>T (p.Ser110=)
| gnomAD v4 |
| 15 | g.48610744G>C | CA490090179 | FBN1 | c.330C>G (p.Ser110=)
| |
| 15 | g.48610744G>T | CA490090180 | FBN1 | c.330C>A (p.Ser110=)
| |
| 15 | g.48610745G>A | CA392446858 | FBN1 | c.329C>T (p.Ser110Phe)
| |
| 15 | g.48610745G>C | CA392446856 | FBN1 | c.329C>G (p.Ser110Cys)
| ClinVar |
| 15 | g.48610745G>T | CA392446854 | FBN1 | c.329C>A (p.Ser110Tyr)
| |
| 15 | g.48610746A>C | CA392446860 | FBN1 | c.328T>G (p.Ser110Ala)
| |
| 15 | g.48610746A>G | CA392446861 | FBN1 | c.328T>C (p.Ser110Pro)
| |
| 15 | g.48610746A>T | CA392446863 | FBN1 | c.328T>A (p.Ser110Thr)
| |
| 15 | g.48610747A>C | CA490090182 | FBN1 | c.327T>G (p.Pro109=)
| |
| 15 | g.48610747A>G | CA490090183 | FBN1 | c.327T>C (p.Pro109=)
| |
| 15 | g.48610747A>T | CA490090184 | FBN1 | c.327T>A (p.Pro109=)
| |
| 15 | g.48610748G>A | CA392446865 | FBN1 | c.326C>T (p.Pro109Leu)
| |
| 15 | g.48610748G>C | CA392446867 | FBN1 | c.326C>G (p.Pro109Arg)
| |
| 15 | g.48610748G>T | CA392446869 | FBN1 | c.326C>A (p.Pro109His)
| |
| 15 | g.48610749G>A | CA392446876 | FBN1 | c.325C>T (p.Pro109Ser)
| dbSNP |
| 15 | g.48610749G>C | CA392446878 | FBN1 | c.325C>G (p.Pro109Ala)
| |
| 15 | g.48610749G= | CA2175573519 | FBN1 | c.325C= (p.Pro109=)
| |
| 15 | g.48610749G>T | CA392446880 | FBN1 | c.325C>A (p.Pro109Thr)
| |
| 15 | g.48610750A>C | CA490090185 | FBN1 | c.324T>G (p.Ala108=)
| |
| 15 | g.48610750A>G | CA490090186 | FBN1 | c.324T>C (p.Ala108=)
| |
| 15 | g.48610750A>T | CA490090187 | FBN1 | c.324T>A (p.Ala108=)
| |
| 15 | g.48610751G>A | CA392446882 | FBN1 | c.323C>T (p.Ala108Val)
| |
| 15 | g.48610751G>C | CA392446883 | FBN1 | c.323C>G (p.Ala108Gly)
| |
| 15 | g.48610751G>T | CA392446885 | FBN1 | c.323C>A (p.Ala108Asp)
| |
| 15 | g.48610752C>A | CA392446890 | FBN1 | c.322G>T (p.Ala108Ser)
| |
| 15 | g.48610752C>G | CA392446889 | FBN1 | c.322G>C (p.Ala108Pro)
| |
| 15 | g.48610752C>T | CA392446887 | FBN1 | c.322G>A (p.Ala108Thr)
| |
| 15 | g.48610752_48610754delinsCTA | CA2175573520 | FBN1 | c.320_322delinsTAG (p.Ile107=)
| |
| 15 | g.48610753T>A | CA490090188 | FBN1 | c.321A>T (p.Ile107=)
| |
| 15 | g.48610753T>C | CA392446893 | FBN1 | c.321A>G (p.Ile107Met)
| |
| 15 | g.48610753T>G | CA490090189 | FBN1 | c.321A>C (p.Ile107=)
| |
| 15 | g.48610754_48610755del | CA013877 | FBN1 | c.320_321del (p.Ile107SerfsTer21)
| ClinVar dbSNP |
| 15 | g.48610754A>C | CA392446897 | FBN1 | c.320T>G (p.Ile107Arg)
| |
| 15 | g.48610754A>G | CA392446898 | FBN1 | c.320T>C (p.Ile107Thr)
| |
| 15 | g.48610754A>T | CA392446900 | FBN1 | c.320T>A (p.Ile107Lys)
| |
| 15 | g.48610755del | CA2580089555 | FBN1 | c.319del (p.Ile107Ter)
| ClinVar |
| 15 | g.48610755T>A | CA392446902 | FBN1 | c.319A>T (p.Ile107Leu)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.48610755T>C | CA392446904 | FBN1 | c.319A>G (p.Ile107Val)
| ClinVar |
| 15 | g.48610755T>G | CA392446906 | FBN1 | c.319A>C (p.Ile107Leu)
| |
| 15 | g.48610755T= | CA2175573521 | FBN1 | c.319A= (p.Ile107=)
| |
| 15 | g.48610756C>A | CA392446908 | FBN1 | c.318G>T (p.Gln106His)
| |
| 15 | g.48610756C>G | CA392446910 | FBN1 | c.318G>C (p.Gln106His)
| |
| 15 | g.48610756C>T | CA490090192 | FBN1 | c.318G>A (p.Gln106=)
| |
| 15 | g.48610757_48610760dup | CA915946001 | FBN1 | c.315_318dup (p.Ile107SerfsTer23)
| ClinVar dbSNP |
| 15 | g.48610757T>A | CA392446912 | FBN1 | c.317A>T (p.Gln106Leu)
| |
| 15 | g.48610757T>C | CA392446913 | FBN1 | c.317A>G (p.Gln106Arg)
| |
| 15 | g.48610757T>G | CA392446915 | FBN1 | c.317A>C (p.Gln106Pro)
| |
| 15 | g.48610758G>A | CA392446921 | FBN1 | c.316C>T (p.Gln106Ter)
| |
| 15 | g.48610758G>C | CA392446917 | FBN1 | c.316C>G (p.Gln106Glu)
| |
| 15 | g.48610758G>T | CA392446919 | FBN1 | c.316C>A (p.Gln106Lys)
| gnomAD v4 |
| 15 | g.48610759A>C | CA490090193 | FBN1 | c.315T>G (p.Gly105=)
| |
| 15 | g.48610759A>G | CA490090194 | FBN1 | c.315T>C (p.Gly105=)
| |
| 15 | g.48610759A>T | CA490090196 | FBN1 | c.315T>A (p.Gly105=)
| |
| 15 | g.48610760C>A | CA392446922 | FBN1 | c.314G>T (p.Gly105Val)
| |
| 15 | g.48610760C>G | CA392446923 | FBN1 | c.314G>C (p.Gly105Ala)
| |
| 15 | g.48610760C>T | CA392446924 | FBN1 | c.314G>A (p.Gly105Asp)
| |
| 15 | g.48610761C>A | CA392446926 | FBN1 | c.313G>T (p.Gly105Cys)
| |
| 15 | g.48610761C>G | CA392446928 | FBN1 | c.313G>C (p.Gly105Arg)
| |
| 15 | g.48610761C>T | CA392446930 | FBN1 | c.313G>A (p.Gly105Ser)
| |
| 15 | g.48610762A>C | CA490090199 | FBN1 | c.312T>G (p.Ser104=)
| |
| 15 | g.48610762A>G | CA490090200 | FBN1 | c.312T>C (p.Ser104=)
| |
| 15 | g.48610762A>T | CA490090201 | FBN1 | c.312T>A (p.Ser104=)
| |
| 15 | g.48610763_48610764del | CA2739290641 | FBN1 | c.311_312del (p.Ser104TrpfsTer24)
| |
| 15 | g.48610762_48610765dup | CA2695220684 | FBN1 | c.309_312dup (p.Gly105IlefsTer25)
| |
| 15 | g.48610763G>A | CA392446931 | FBN1 | c.311C>T (p.Ser104Phe)
| COSMIC |
| 15 | g.48610763G>C | CA392446933 | FBN1 | c.311C>G (p.Ser104Cys)
| |
| 15 | g.48610763G>T | CA392446935 | FBN1 | c.311C>A (p.Ser104Tyr)
| |
| 15 | g.48610764A>C | CA392446937 | FBN1 | c.310T>G (p.Ser104Ala)
| |
| 15 | g.48610764A>G | CA392446939 | FBN1 | c.310T>C (p.Ser104Pro)
| |
| 15 | g.48610764A>T | CA392446941 | FBN1 | c.310T>A (p.Ser104Thr)
| |
| 15 | g.48610765del | CA2573150806 | FBN1 | c.309del (p.Ser104LeufsTer4)
| ClinVar dbSNP |
| 15 | g.48610765T>A | CA490090205 | FBN1 | c.309A>T (p.Pro103=)
| |
| 15 | g.48610765T>C | CA490090206 | FBN1 | c.309A>G (p.Pro103=)
| gnomAD v4 |
| 15 | g.48610765T>G | CA490090207 | FBN1 | c.309A>C (p.Pro103=)
| |
| 15 | g.48610766G>A | CA392446945 | FBN1 | c.308C>T (p.Pro103Leu)
| |
| 15 | g.48610766G>C | CA392446947 | FBN1 | c.308C>G (p.Pro103Arg)
| |
| 15 | g.48610766G>T | CA392446943 | FBN1 | c.308C>A (p.Pro103Gln)
| |
| 15 | g.48610768dup | CA2695220685 | FBN1 | c.308dup (p.Ser104IlefsTer25)
| |
| 15 | g.48610767G>A | CA392446948 | FBN1 | c.307C>T (p.Pro103Ser)
| |
| 15 | g.48610767G>C | CA392446950 | FBN1 | c.307C>G (p.Pro103Ala)
| |
| 15 | g.48610767G>T | CA392446953 | FBN1 | c.307C>A (p.Pro103Thr)
| |
| 15 | g.48610768G>A | CA013747 | FBN1 | c.306C>T (p.Cys102=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610768G>C | CA392446956 | FBN1 | c.306C>G (p.Cys102Trp)
| ClinVar |
| 15 | g.48610768G= | CA2175573522 | FBN1 | c.306C= (p.Cys102=)
| |
| 15 | g.48610768G>T | CA16607112 | FBN1 | c.306C>A (p.Cys102Ter)
| ClinVar dbSNP |
| 15 | g.48610768_48610769delinsGC | CA2175573523 | FBN1 | c.305_306delinsGC (p.Cys102=)
| |
| 15 | g.48610768_48610769delinsTT | CA658825075 | FBN1 | c.305_306delinsAA (p.Cys102Ter)
| ClinVar dbSNP |
| 15 | g.48610769C>A | CA013737 | FBN1 | c.305G>T (p.Cys102Phe)
| ClinVar dbSNP |
| 15 | g.48610769C= | CA2175573524 | FBN1 | c.305G= (p.Cys102=)
| |
| 15 | g.48610769C>G | CA392446959 | FBN1 | c.305G>C (p.Cys102Ser)
| ClinVar dbSNP |
| 15 | g.48610769C>T | CA392446961 | FBN1 | c.305G>A (p.Cys102Tyr)
| ClinVar dbSNP |
| 15 | g.48610770A= | CA2175573525 | FBN1 | c.304T= (p.Cys102=)
| |
| 15 | g.48610770A>C | CA392446964 | FBN1 | c.304T>G (p.Cys102Gly)
| |
| 15 | g.48610770A>G | CA392446965 | FBN1 | c.304T>C (p.Cys102Arg)
| ClinVar dbSNP |
| 15 | g.48610770A>T | CA392446967 | FBN1 | c.304T>A (p.Cys102Ser)
| |
| 15 | g.48610771A= | CA2175573526 | FBN1 | c.303T= (p.Thr101=)
| |
| 15 | g.48610771A>C | CA490090209 | FBN1 | c.303T>G (p.Thr101=)
| |
| 15 | g.48610771A>G | CA490090210 | FBN1 | c.303T>C (p.Thr101=)
| dbSNP gnomAD v2 |
| 15 | g.48610771A>T | CA490090211 | FBN1 | c.303T>A (p.Thr101=)
| |
| 15 | g.48610772G>A | CA049603 | FBN1 | c.302C>T (p.Thr101Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610772G>C | CA392446970 | FBN1 | c.302C>G (p.Thr101Ser)
| |
| 15 | g.48610772G= | CA2175573527 | FBN1 | c.302C= (p.Thr101=)
| |
| 15 | g.48610772G>T | CA392446971 | FBN1 | c.302C>A (p.Thr101Asn)
| |
| 15 | g.48610773T>A | CA392446973 | FBN1 | c.301A>T (p.Thr101Ser)
| ClinVar |
| 15 | g.48610773T>C | CA392446977 | FBN1 | c.301A>G (p.Thr101Ala)
| |
| 15 | g.48610773T>G | CA392446975 | FBN1 | c.301A>C (p.Thr101Pro)
| |
| 15 | g.48610774G>A | CA013631 | FBN1 | c.300C>T (p.Cys100=)
| ClinVar dbSNP |
| 15 | g.48610774G>C | CA392446979 | FBN1 | c.300C>G (p.Cys100Trp)
| |
| 15 | g.48610774G= | CA2175573528 | FBN1 | c.300C= (p.Cys100=)
| |
| 15 | g.48610774G>T | CA392446981 | FBN1 | c.300C>A (p.Cys100Ter)
| ClinVar dbSNP |
| 15 | g.48610775C>A | CA013619 | FBN1 | c.299G>T (p.Cys100Phe)
| ClinVar dbSNP |
| 15 | g.48610775C= | CA2175573529 | FBN1 | c.299G= (p.Cys100=)
| |
| 15 | g.48610775C>G | CA392446983 | FBN1 | c.299G>C (p.Cys100Ser)
| |
| 15 | g.48610775C>T | CA10576993 | FBN1 | c.299G>A (p.Cys100Tyr)
| ClinVar dbSNP |
| 15 | g.48610776A= | CA2175573530 | FBN1 | c.298T= (p.Cys100=)
| |
| 15 | g.48610776A>C | CA392446986 | FBN1 | c.298T>G (p.Cys100Gly)
| |
| 15 | g.48610776A>G | CA392446988 | FBN1 | c.298T>C (p.Cys100Arg)
| ClinVar dbSNP |
| 15 | g.48610776A>T | CA392446990 | FBN1 | c.298T>A (p.Cys100Ser)
| |
| 15 | g.48610777C>A | CA392446992 | FBN1 | c.297G>T (p.Met99Ile)
| |
| 15 | g.48610777C= | CA2175573531 | FBN1 | c.297G= (p.Met99=)
| |
| 15 | g.48610777C>G | CA392446994 | FBN1 | c.297G>C (p.Met99Ile)
| |
| 15 | g.48610777C>T | CA392446996 | FBN1 | c.297G>A (p.Met99Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48610778A>C | CA392446998 | FBN1 | c.296T>G (p.Met99Arg)
| |
| 15 | g.48610778A>G | CA392447002 | FBN1 | c.296T>C (p.Met99Thr)
| |
| 15 | g.48610778A>T | CA392447000 | FBN1 | c.296T>A (p.Met99Lys)
| |
| 15 | g.48610779T>A | CA392447004 | FBN1 | c.295A>T (p.Met99Leu)
| |
| 15 | g.48610779T>C | CA392447006 | FBN1 | c.295A>G (p.Met99Val)
| ClinVar gnomAD v4 |
| 15 | g.48610779T>G | CA392447008 | FBN1 | c.295A>C (p.Met99Leu)
| |
| 15 | g.48610779dup | CA2695220687 | FBN1 | c.295dup (p.Met99AsnfsTer30)
| |
| 15 | g.48610780A>C | CA392447009 | FBN1 | c.294T>G (p.Asn98Lys)
| |
| 15 | g.48610780A>G | CA490090216 | FBN1 | c.294T>C (p.Asn98=)
| |
| 15 | g.48610780A>T | CA392447010 | FBN1 | c.294T>A (p.Asn98Lys)
| |
| 15 | g.48610780_48610781delinsAT | CA2175573532 | FBN1 | c.293_294delinsAT (p.Asn98=)
| |
| 15 | g.48610781T>A | CA392447013 | FBN1 | c.293A>T (p.Asn98Ile)
| |
| 15 | g.48610781T>C | CA392447012 | FBN1 | c.293A>G (p.Asn98Ser)
| ClinVar gnomAD v4 |
| 15 | g.48610781T>G | CA392447011 | FBN1 | c.293A>C (p.Asn98Thr)
| |
| 15 | g.48610783del | CA1139663966 | FBN1 | c.293del (p.Asn98IlefsTer10)
| ClinVar dbSNP |
| 15 | g.48610782T>A | CA392447014 | FBN1 | c.292A>T (p.Asn98Tyr)
| |
| 15 | g.48610782T>C | CA392447015 | FBN1 | c.292A>G (p.Asn98Asp)
| |
| 15 | g.48610782T>G | CA392447016 | FBN1 | c.292A>C (p.Asn98His)
| |
| 15 | g.48610783T>A | CA490090220 | FBN1 | c.291A>T (p.Pro97=)
| |
| 15 | g.48610783T>C | CA490090221 | FBN1 | c.291A>G (p.Pro97=)
| gnomAD v4 |
| 15 | g.48610783T>G | CA490090222 | FBN1 | c.291A>C (p.Pro97=)
| |
| 15 | g.48610784G>A | CA392447017 | FBN1 | c.290C>T (p.Pro97Leu)
| |
| 15 | g.48610784G>C | CA392447018 | FBN1 | c.290C>G (p.Pro97Arg)
| |
| 15 | g.48610784G>T | CA392447019 | FBN1 | c.290C>A (p.Pro97Gln)
| |
| 15 | g.48610785G>A | CA392447020 | FBN1 | c.289C>T (p.Pro97Ser)
| |
| 15 | g.48610785G>C | CA392447022 | FBN1 | c.289C>G (p.Pro97Ala)
| |
| 15 | g.48610785G>T | CA392447021 | FBN1 | c.289C>A (p.Pro97Thr)
| |
| 15 | g.48610786C>A | CA392447023 | FBN1 | c.288G>T (p.Arg96Ser)
| |
| 15 | g.48610786C>G | CA392447024 | FBN1 | c.288G>C (p.Arg96Ser)
| |
| 15 | g.48610786C>T | CA490090223 | FBN1 | c.288G>A (p.Arg96=)
| gnomAD v4 |
| 15 | g.48610787C>A | CA392447025 | FBN1 | c.287G>T (p.Arg96Met)
| |
| 15 | g.48610787C= | CA2175573533 | FBN1 | c.287G= (p.Arg96=)
| |
| 15 | g.48610787C>G | CA013493 | FBN1 | c.287G>C (p.Arg96Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48610787C>T | CA392447026 | FBN1 | c.287G>A (p.Arg96Lys)
| |
| 15 | g.48610788T>A | CA392447027 | FBN1 | c.286A>T (p.Arg96Trp)
| |
| 15 | g.48610788T>C | CA392447028 | FBN1 | c.286A>G (p.Arg96Gly)
| |
| 15 | g.48610788T>G | CA490090227 | FBN1 | c.286A>C (p.Arg96=)
| |
| 15 | g.48610789C>A | CA490090229 | FBN1 | c.285G>T (p.Ser95=)
| |
| 15 | g.48610789C= | CA2175573534 | FBN1 | c.285G= (p.Ser95=)
| |
| 15 | g.48610789C>G | CA490090228 | FBN1 | c.285G>C (p.Ser95=)
| gnomAD v4 |
| 15 | g.48610789C>T | CA049128 | FBN1 | c.285G>A (p.Ser95=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610790G>A | CA270059090 | FBN1 | c.284C>T (p.Ser95Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610790G>C | CA392447030 | FBN1 | c.284C>G (p.Ser95Trp)
| ClinVar dbSNP |
| 15 | g.48610790G= | CA2175573535 | FBN1 | c.284C= (p.Ser95=)
| |
| 15 | g.48610790G>T | CA392447031 | FBN1 | c.284C>A (p.Ser95Ter)
| ClinVar dbSNP |
| 15 | g.48610791A>C | CA392447034 | FBN1 | c.283T>G (p.Ser95Ala)
| |
| 15 | g.48610791A>G | CA392447033 | FBN1 | c.283T>C (p.Ser95Pro)
| |
| 15 | g.48610791A>T | CA392447032 | FBN1 | c.283T>A (p.Ser95Thr)
| |
| 15 | g.48610792A>C | CA392447035 | FBN1 | c.282T>G (p.Cys94Trp)
| |
| 15 | g.48610792A>G | CA490090231 | FBN1 | c.282T>C (p.Cys94=)
| ClinVar |
| 15 | g.48610792A>T | CA392447036 | FBN1 | c.282T>A (p.Cys94Ter)
| |
| 15 | g.48610793C>A | CA013427 | FBN1 | c.281G>T (p.Cys94Phe)
| ClinVar dbSNP |
| 15 | g.48610793C= | CA2175573536 | FBN1 | c.281G= (p.Cys94=)
| |
| 15 | g.48610793C>G | CA392447038 | FBN1 | c.281G>C (p.Cys94Ser)
| |
| 15 | g.48610793C>T | CA392447037 | FBN1 | c.281G>A (p.Cys94Tyr)
| ClinVar |
| 15 | g.48610794A>C | CA392447039 | FBN1 | c.280T>G (p.Cys94Gly)
| |
| 15 | g.48610794A>G | CA392447040 | FBN1 | c.280T>C (p.Cys94Arg)
| |
| 15 | g.48610794A>T | CA392447041 | FBN1 | c.280T>A (p.Cys94Ser)
| |
| 15 | g.48610795A>C | CA392447042 | FBN1 | c.279T>G (p.Phe93Leu)
| |
| 15 | g.48610795A>G | CA490090234 | FBN1 | c.279T>C (p.Phe93=)
| |
| 15 | g.48610795A>T | CA392447043 | FBN1 | c.279T>A (p.Phe93Leu)
| |
| 15 | g.48610796A= | CA2175573537 | FBN1 | c.278T= (p.Phe93=)
| |
| 15 | g.48610796A>C | CA270059096 | FBN1 | c.278T>G (p.Phe93Cys)
| dbSNP |
| 15 | g.48610796A>G | CA392447044 | FBN1 | c.278T>C (p.Phe93Ser)
| |
| 15 | g.48610796A>T | CA392447045 | FBN1 | c.278T>A (p.Phe93Tyr)
| |
| 15 | g.48610797A>C | CA392447046 | FBN1 | c.277T>G (p.Phe93Val)
| |
| 15 | g.48610797A>G | CA392447047 | FBN1 | c.277T>C (p.Phe93Leu)
| |
| 15 | g.48610797A>T | CA392447048 | FBN1 | c.277T>A (p.Phe93Ile)
| |
| 15 | g.48610798T>A | CA490090235 | FBN1 | c.276A>T (p.Gly92=)
| |
| 15 | g.48610798T>C | CA490090236 | FBN1 | c.276A>G (p.Gly92=)
| |
| 15 | g.48610798T>G | CA490090237 | FBN1 | c.276A>C (p.Gly92=)
| |
| 15 | g.48610799C>A | CA392447051 | FBN1 | c.275G>T (p.Gly92Val)
| |
| 15 | g.48610799C>G | CA392447050 | FBN1 | c.275G>C (p.Gly92Ala)
| |
| 15 | g.48610799C>T | CA392447049 | FBN1 | c.275G>A (p.Gly92Glu)
| COSMIC |
| 15 | g.48610800C>A | CA392447052 | FBN1 | c.274G>T (p.Gly92Ter)
| |
| 15 | g.48610800C>G | CA392447057 | FBN1 | c.274G>C (p.Gly92Arg)
| |
| 15 | g.48610800C>T | CA392447059 | FBN1 | c.274G>A (p.Gly92Arg)
| ClinVar dbSNP |
| 15 | g.48610801A= | CA2175573538 | FBN1 | c.273T= (p.Asp91=)
| |
| 15 | g.48610801A>C | CA392447061 | FBN1 | c.273T>G (p.Asp91Glu)
| |
| 15 | g.48610801A>G | CA048775 | FBN1 | c.273T>C (p.Asp91=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610801A>T | CA392447062 | FBN1 | c.273T>A (p.Asp91Glu)
| |
| 15 | g.48610802T>A | CA392447063 | FBN1 | c.272A>T (p.Asp91Val)
| |
| 15 | g.48610802T>C | CA392447065 | FBN1 | c.272A>G (p.Asp91Gly)
| |
| 15 | g.48610802T>G | CA392447067 | FBN1 | c.272A>C (p.Asp91Ala)
| |
| 15 | g.48610803C>A | CA392447070 | FBN1 | c.271G>T (p.Asp91Tyr)
| |
| 15 | g.48610803C>G | CA392447071 | FBN1 | c.271G>C (p.Asp91His)
| |
| 15 | g.48610803C>T | CA392447072 | FBN1 | c.271G>A (p.Asp91Asn)
| |
| 15 | g.48610804C>A | CA490090240 | FBN1 | c.270G>T (p.Gly90=)
| |
| 15 | g.48610804C>G | CA490090241 | FBN1 | c.270G>C (p.Gly90=)
| |
| 15 | g.48610804C>T | CA490090239 | FBN1 | c.270G>A (p.Gly90=)
| |
| 15 | g.48610804_48610806delinsCCC | CA2175573539 | FBN1 | c.268_270delinsGGG (p.Gly90=)
| |
| 15 | g.48610805C>A | CA392447074 | FBN1 | c.269G>T (p.Gly90Val)
| |
| 15 | g.48610805C>G | CA392447075 | FBN1 | c.269G>C (p.Gly90Ala)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.48610805C>T | CA392447073 | FBN1 | c.269G>A (p.Gly90Glu)
| |
| 15 | g.48610805_48610806delinsG | CA013333 | FBN1 | c.268_269delinsC (p.Gly90ArgfsTer18)
| ClinVar dbSNP |
| 15 | g.48610806C>A | CA392447078 | FBN1 | c.268G>T (p.Gly90Trp)
| |
| 15 | g.48610806C>G | CA392447089 | FBN1 | c.268G>C (p.Gly90Arg)
| |
| 15 | g.48610806C>T | CA392447093 | FBN1 | c.268G>A (p.Gly90Arg)
| ClinVar |
| 15 | g.48610807A>C | CA392447096 | FBN1 | c.267T>G (p.Cys89Trp)
| |
| 15 | g.48610807A>G | CA490090242 | FBN1 | c.267T>C (p.Cys89=)
| gnomAD v4 |
| 15 | g.48610807A>T | CA392447100 | FBN1 | c.267T>A (p.Cys89Ter)
| |
| 15 | g.48610808C>A | CA270059115 | FBN1 | c.266G>T (p.Cys89Phe)
| ClinVar dbSNP |
| 15 | g.48610808C= | CA2175573540 | FBN1 | c.266G= (p.Cys89=)
| |
| 15 | g.48610808C>G | CA013283 | FBN1 | c.266G>C (p.Cys89Ser)
| ClinVar dbSNP |
| 15 | g.48610808C>T | CA013275 | FBN1 | c.266G>A (p.Cys89Tyr)
| ClinVar dbSNP |
| 15 | g.48610809A= | CA2175573541 | FBN1 | c.265T= (p.Cys89=)
| |
| 15 | g.48610809A>C | CA392447114 | FBN1 | c.265T>G (p.Cys89Gly)
| |
| 15 | g.48610809A>G | CA392447117 | FBN1 | c.265T>C (p.Cys89Arg)
| ClinVar dbSNP |
| 15 | g.48610809A>T | CA392447121 | FBN1 | c.265T>A (p.Cys89Ser)
| |
| 15 | g.48610810G>A | CA490090243 | FBN1 | c.264C>T (p.Ser88=)
| |
| 15 | g.48610810G>C | CA490090244 | FBN1 | c.264C>G (p.Ser88=)
| |
| 15 | g.48610810G>T | CA490090245 | FBN1 | c.264C>A (p.Ser88=)
| |
| 15 | g.48610811G>A | CA392447122 | FBN1 | c.263C>T (p.Ser88Phe)
| dbSNP |
| 15 | g.48610811G>C | CA270059127 | FBN1 | c.263C>G (p.Ser88Cys)
| dbSNP |
| 15 | g.48610811G= | CA2175573542 | FBN1 | c.263C= (p.Ser88=)
| |
| 15 | g.48610811G>T | CA392447123 | FBN1 | c.263C>A (p.Ser88Tyr)
| COSMIC |
| 15 | g.48610812A>C | CA392447124 | FBN1 | c.262T>G (p.Ser88Ala)
| |
| 15 | g.48610812A>G | CA392447128 | FBN1 | c.262T>C (p.Ser88Pro)
| |
| 15 | g.48610812A>T | CA392447125 | FBN1 | c.262T>A (p.Ser88Thr)
| |
| 15 | g.48610813A= | CA2175573543 | FBN1 | c.261T= (p.His87=)
| |
| 15 | g.48610813A>C | CA392447130 | FBN1 | c.261T>G (p.His87Gln)
| gnomAD v4 |
| 15 | g.48610813A>G | CA048233 | FBN1 | c.261T>C (p.His87=)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48610813A>T | CA392447134 | FBN1 | c.261T>A (p.His87Gln)
| |
| 15 | g.48610813_48610816delinsATGC | CA2175573544 | FBN1 | c.258_261delinsGCAT (p.Arg86=)
| |
| 15 | g.48610814T>A | CA392447137 | FBN1 | c.260A>T (p.His87Leu)
| |
| 15 | g.48610814T>C | CA16614458 | FBN1 | c.260A>G (p.His87Arg)
| ClinVar dbSNP |
| 15 | g.48610814T>G | CA392447141 | FBN1 | c.260A>C (p.His87Pro)
| |
| 15 | g.48610814T= | CA2175573545 | FBN1 | c.260A= (p.His87=)
| |
| 15 | g.48610814_48610816delinsAG | CA658798368 | FBN1 | c.258_260delinsCT (p.His87PhefsTer21)
| ClinVar dbSNP |
| 15 | g.48610815G>A | CA392447143 | FBN1 | c.259C>T (p.His87Tyr)
| |
| 15 | g.48610815G>C | CA392447145 | FBN1 | c.259C>G (p.His87Asp)
| COSMIC |
| 15 | g.48610815G= | CA2175573546 | FBN1 | c.259C= (p.His87=)
| |
| 15 | g.48610815G>T | CA048158 | FBN1 | c.259C>A (p.His87Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610816C>A | CA270059139 | FBN1 | c.258G>T (p.Arg86=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48610816C= | CA2175573547 | FBN1 | c.258G= (p.Arg86=)
| |
| 15 | g.48610816C>G | CA490090247 | FBN1 | c.258G>C (p.Arg86=)
| |
| 15 | g.48610816C>T | CA490090246 | FBN1 | c.258G>A (p.Arg86=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610817C>A | CA392447148 | FBN1 | c.257G>T (p.Arg86Leu)
| |
| 15 | g.48610817C= | CA2175573548 | FBN1 | c.257G= (p.Arg86=)
| |
| 15 | g.48610817C>G | CA392447153 | FBN1 | c.257G>C (p.Arg86Pro)
| |
| 15 | g.48610817C>T | CA392447159 | FBN1 | c.257G>A (p.Arg86Gln)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.48610818G>A | CA048069 | FBN1 | c.256C>T (p.Arg86Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48610818G>C | CA392447165 | FBN1 | c.256C>G (p.Arg86Gly)
| |
| 15 | g.48610818G= | CA2175573549 | FBN1 | c.256C= (p.Arg86=)
| |
| 15 | g.48610818G>T | CA490090248 | FBN1 | c.256C>A (p.Arg86=)
| |
| 15 | g.48610819del | CA2580089569 | FBN1 | c.256del (p.Arg86GlyfsTer22)
| ClinVar |
| 15 | g.48610819G>A | CA490090249 | FBN1 | c.255C>T (p.Cys85=)
| |
| 15 | g.48610819G>C | CA392447167 | FBN1 | c.255C>G (p.Cys85Trp)
| |
| 15 | g.48610819G= | CA2175573550 | FBN1 | c.255C= (p.Cys85=)
| |
| 15 | g.48610819G>T | CA392447170 | FBN1 | c.255C>A (p.Cys85Ter)
| ClinVar dbSNP |
| 15 | g.48610820C>A | CA392447174 | FBN1 | c.254G>T (p.Cys85Phe)
| |
| 15 | g.48610820C>G | CA392447176 | FBN1 | c.254G>C (p.Cys85Ser)
| |
| 15 | g.48610820C>T | CA392447177 | FBN1 | c.254G>A (p.Cys85Tyr)
| ClinVar COSMIC |
| 15 | g.48610821A>C | CA392447181 | FBN1 | c.253T>G (p.Cys85Gly)
| |
| 15 | g.48610821A>G | CA392447182 | FBN1 | c.253T>C (p.Cys85Arg)
| |
| 15 | g.48610821A>T | CA392447183 | FBN1 | c.253T>A (p.Cys85Ser)
| |
| 15 | g.48610822A>C | CA392447184 | FBN1 | c.252T>G (p.Ile84Met)
| |
| 15 | g.48610822A>G | CA490090250 | FBN1 | c.252T>C (p.Ile84=)
| ClinVar gnomAD v4 |
| 15 | g.48610822A>T | CA490090251 | FBN1 | c.252T>A (p.Ile84=)
| |
| 15 | g.48610823A>C | CA392447185 | FBN1 | c.251T>G (p.Ile84Ser)
| |
| 15 | g.48610823A>G | CA392447189 | FBN1 | c.251T>C (p.Ile84Thr)
| |
| 15 | g.48610823A>T | CA392447186 | FBN1 | c.251T>A (p.Ile84Asn)
| |
| 15 | g.48610824T>A | CA392447200 | FBN1 | c.250A>T (p.Ile84Phe)
| |
| 15 | g.48610824T>C | CA270059148 | FBN1 | c.250A>G (p.Ile84Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48610824T>G | CA392447205 | FBN1 | c.250A>C (p.Ile84Leu)
| |
| 15 | g.48610824T= | CA2175573551 | FBN1 | c.250A= (p.Ile84=)
| |
| 15 | g.48610825G>A | CA490090252 | FBN1 | c.249C>T (p.Pro83=)
| COSMIC |
| 15 | g.48610825G>C | CA490090253 | FBN1 | c.249C>G (p.Pro83=)
| |
| 15 | g.48610825G= | CA2175573552 | FBN1 | c.249C= (p.Pro83=)
| |
| 15 | g.48610825G>T | CA047856 | FBN1 | c.249C>A (p.Pro83=)
| ClinVar dbSNP ExAC gnomAD v2 |
| 15 | g.48610826del | CA2695220690 | FBN1 | c.249del (p.Ile84PhefsTer24)
| |
