| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48448724C>A | CA2628347945 | FBN1 | c.5671+44G>T (n.5671+44G>T) n.4345+44G>T c.670+44G>T (n.670+44G>T) c.*1434+44G>T (n.*1434+44G>T) c.978+44G>T | gnomAD v4 |
| 15 | g.48448724C>T | CA2628347946 | FBN1 | c.5671+44G>A (n.5671+44G>A) n.4345+44G>A c.670+44G>A (n.670+44G>A) c.*1434+44G>A (n.*1434+44G>A) c.978+44G>A | gnomAD v4 |
| 15 | g.48448725T>A | CA2628347947 | FBN1 | c.5671+43A>T (n.5671+43A>T) n.4345+43A>T c.670+43A>T (n.670+43A>T) c.*1434+43A>T (n.*1434+43A>T) c.978+43A>T | gnomAD v4 |
| 15 | g.48448727T>A | CA617837657 | FBN1 | c.5671+41A>T (n.5671+41A>T) n.4345+41A>T c.670+41A>T (n.670+41A>T) c.*1434+41A>T (n.*1434+41A>T) c.978+41A>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48448727T>C | CA2575716932 | FBN1 | c.5671+41A>G (n.5671+41A>G) n.4345+41A>G c.670+41A>G (n.670+41A>G) c.*1434+41A>G (n.*1434+41A>G) c.978+41A>G | |
| 15 | g.48448727T= | CA2175498040 | FBN1 | c.5671+41A= (n.5671+41A=) n.4345+41A= c.670+41A= (n.670+41A=) c.*1434+41A= (n.*1434+41A=) c.978+41A= | |
| 15 | g.48448728C>A | CA2628347948 | FBN1 | c.5671+40G>T (n.5671+40G>T) n.4345+40G>T c.670+40G>T (n.670+40G>T) c.*1434+40G>T (n.*1434+40G>T) c.978+40G>T | gnomAD v4 |
| 15 | g.48448728C>G | CA2628347949 | FBN1 | c.5671+40G>C (n.5671+40G>C) n.4345+40G>C c.670+40G>C (n.670+40G>C) c.*1434+40G>C (n.*1434+40G>C) c.978+40G>C | gnomAD v4 |
| 15 | g.48448728C>T | CA2628347950 | FBN1 | c.5671+40G>A (n.5671+40G>A) n.4345+40G>A c.670+40G>A (n.670+40G>A) c.*1434+40G>A (n.*1434+40G>A) c.978+40G>A | gnomAD v4 |
| 15 | g.48448729A>G | CA2628347951 | FBN1 | c.5671+39T>C (n.5671+39T>C) n.4345+39T>C c.670+39T>C (n.670+39T>C) c.*1434+39T>C (n.*1434+39T>C) c.978+39T>C | gnomAD v4 |
| 15 | g.48448731C>A | CA2175498045 | FBN1 | c.5671+37G>T (n.5671+37G>T) n.4345+37G>T c.670+37G>T (n.670+37G>T) c.*1434+37G>T (n.*1434+37G>T) c.978+37G>T | dbSNP gnomAD v4 |
| 15 | g.48448731C= | CA2175498043 | FBN1 | c.5671+37G= (n.5671+37G=) n.4345+37G= c.670+37G= (n.670+37G=) c.*1434+37G= (n.*1434+37G=) c.978+37G= | |
| 15 | g.48448733G>A | CA055367 | FBN1 | c.5671+35C>T (n.5671+35C>T) n.4345+35C>T c.670+35C>T (n.670+35C>T) c.*1434+35C>T (n.*1434+35C>T) c.978+35C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448733G= | CA2175498048 | FBN1 | c.5671+35C= (n.5671+35C=) n.4345+35C= c.670+35C= (n.670+35C=) c.*1434+35C= (n.*1434+35C=) c.978+35C= | |
| 15 | g.48448733G>T | CA2575716933 | FBN1 | c.5671+35C>A (n.5671+35C>A) n.4345+35C>A c.670+35C>A (n.670+35C>A) c.*1434+35C>A (n.*1434+35C>A) c.978+35C>A | gnomAD v4 |
| 15 | g.48448734C>A | CA2628347952 | FBN1 | c.5671+34G>T (n.5671+34G>T) n.4345+34G>T c.670+34G>T (n.670+34G>T) c.*1434+34G>T (n.*1434+34G>T) c.978+34G>T | gnomAD v4 |
| 15 | g.48448734C= | CA2175498049 | FBN1 | c.5671+34G= (n.5671+34G=) n.4345+34G= c.670+34G= (n.670+34G=) c.*1434+34G= (n.*1434+34G=) c.978+34G= | |
| 15 | g.48448734C>T | CA617837658 | FBN1 | c.5671+34G>A (n.5671+34G>A) n.4345+34G>A c.670+34G>A (n.670+34G>A) c.*1434+34G>A (n.*1434+34G>A) c.978+34G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48448735A>G | CA2628347953 | FBN1 | c.5671+33T>C (n.5671+33T>C) n.4345+33T>C c.670+33T>C (n.670+33T>C) c.*1434+33T>C (n.*1434+33T>C) c.978+33T>C | gnomAD v4 |
| 15 | g.48448736T>A | CA617837659 | FBN1 | c.5671+32A>T (n.5671+32A>T) n.4345+32A>T c.670+32A>T (n.670+32A>T) c.*1434+32A>T (n.*1434+32A>T) c.978+32A>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48448736T>C | CA055358 | FBN1 | c.5671+32A>G (n.5671+32A>G) n.4345+32A>G c.670+32A>G (n.670+32A>G) c.*1434+32A>G (n.*1434+32A>G) c.978+32A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448736T= | CA2175498050 | FBN1 | c.5671+32A= (n.5671+32A=) n.4345+32A= c.670+32A= (n.670+32A=) c.*1434+32A= (n.*1434+32A=) c.978+32A= | |
| 15 | g.48448738T>C | CA2628347954 | FBN1 | c.5671+30A>G (n.5671+30A>G) n.4345+30A>G c.670+30A>G (n.670+30A>G) c.*1434+30A>G (n.*1434+30A>G) c.978+30A>G | gnomAD v4 |
| 15 | g.48448739G>A | CA969551119 | FBN1 | c.5671+29C>T (n.5671+29C>T) n.4345+29C>T c.670+29C>T (n.670+29C>T) c.*1434+29C>T (n.*1434+29C>T) c.978+29C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448739G= | CA2175498051 | FBN1 | c.5671+29C= (n.5671+29C=) n.4345+29C= c.670+29C= (n.670+29C=) c.*1434+29C= (n.*1434+29C=) c.978+29C= | |
| 15 | g.48448739G>T | CA2628347955 | FBN1 | c.5671+29C>A (n.5671+29C>A) n.4345+29C>A c.670+29C>A (n.670+29C>A) c.*1434+29C>A (n.*1434+29C>A) c.978+29C>A | gnomAD v4 |
| 15 | g.48448740A>G | CA2628347958 | FBN1 | c.5671+28T>C (n.5671+28T>C) n.4345+28T>C c.670+28T>C (n.670+28T>C) c.*1434+28T>C (n.*1434+28T>C) c.978+28T>C | gnomAD v4 |
| 15 | g.48448746dup | CA7547912 | FBN1 | c.5671+28dup (n.5671+28dup) n.4345+28dup c.670+28dup (n.670+28dup) c.*1434+28dup (n.*1434+28dup) c.978+28dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448745_48448746dup | CA2628347956 | FBN1 | c.5671+27_5671+28dup (n.5671+27_5671+28dup) n.4345+27_4345+28dup c.670+27_670+28dup (n.670+27_670+28dup) c.*1434+27_*1434+28dup (n.*1434+27_*1434+28dup) c.978+27_978+28dup | gnomAD v4 |
| 15 | g.48448746del | CA2628347957 | FBN1 | c.5671+28del (n.5671+28del) n.4345+28del c.670+28del (n.670+28del) c.*1434+28del (n.*1434+28del) c.978+28del | gnomAD v4 |
| 15 | g.48448741A>G | CA2628347959 | FBN1 | c.5671+27T>C (n.5671+27T>C) n.4345+27T>C c.670+27T>C (n.670+27T>C) c.*1434+27T>C (n.*1434+27T>C) c.978+27T>C | gnomAD v4 |
| 15 | g.48448741_48448742insG | CA2516273738 | FBN1 | c.5671+26_5671+27insC (n.5671+26_5671+27insC) n.4345+26_4345+27insC c.670+26_670+27insC (n.670+26_670+27insC) c.*1434+26_*1434+27insC (n.*1434+26_*1434+27insC) c.978+26_978+27insC | |
| 15 | g.48448743A= | CA2175498057 | FBN1 | c.5671+25T= (n.5671+25T=) n.4345+25T= c.670+25T= (n.670+25T=) c.*1434+25T= (n.*1434+25T=) c.978+25T= | |
| 15 | g.48448743A>T | CA055353 | FBN1 | c.5671+25T>A (n.5671+25T>A) n.4345+25T>A c.670+25T>A (n.670+25T>A) c.*1434+25T>A (n.*1434+25T>A) c.978+25T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448743_48448744insT | CA2561551969 | FBN1 | c.5671+24_5671+25insA (n.5671+24_5671+25insA) n.4345+24_4345+25insA c.670+24_670+25insA (n.670+24_670+25insA) c.*1434+24_*1434+25insA (n.*1434+24_*1434+25insA) c.978+24_978+25insA | |
| 15 | g.48448744A= | CA2175498061 | FBN1 | c.5671+24T= (n.5671+24T=) n.4345+24T= c.670+24T= (n.670+24T=) c.*1434+24T= (n.*1434+24T=) c.978+24T= | |
| 15 | g.48448744A>T | CA969551126 | FBN1 | c.5671+24T>A (n.5671+24T>A) n.4345+24T>A c.670+24T>A (n.670+24T>A) c.*1434+24T>A (n.*1434+24T>A) c.978+24T>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448744_48448747delinsAAAT | CA2175498062 | FBN1 | c.5671+21_5671+24delinsATTT (n.5671+21_5671+24delinsATTT) n.4345+21_4345+24delinsATTT c.670+21_670+24delinsATTT (n.670+21_670+24delinsATTT) c.*1434+21_*1434+24delinsATTT (n.*1434+21_*1434+24delinsATTT) c.978+21_978+24delinsATTT | |
| 15 | g.48448745A= | CA2175498068 | FBN1 | c.5671+23T= (n.5671+23T=) n.4345+23T= c.670+23T= (n.670+23T=) c.*1434+23T= (n.*1434+23T=) c.978+23T= | |
| 15 | g.48448745A>T | CA617837660 | FBN1 | c.5671+23T>A (n.5671+23T>A) n.4345+23T>A c.670+23T>A (n.670+23T>A) c.*1434+23T>A (n.*1434+23T>A) c.978+23T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448754_48448756del | CA713396407 | FBN1 | c.5671+21_5671+23del (n.5671+21_5671+23del) n.4345+21_4345+23del c.670+21_670+23del (n.670+21_670+23del) c.*1434+21_*1434+23del (n.*1434+21_*1434+23del) c.978+21_978+23del | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448746A= | CA2175498075 | FBN1 | c.5671+22T= (n.5671+22T=) n.4345+22T= c.670+22T= (n.670+22T=) c.*1434+22T= (n.*1434+22T=) c.978+22T= | |
| 15 | g.48448746A>G | CA969551136 | FBN1 | c.5671+22T>C (n.5671+22T>C) n.4345+22T>C c.670+22T>C (n.670+22T>C) c.*1434+22T>C (n.*1434+22T>C) c.978+22T>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448747T>A | CA2628347960 | FBN1 | c.5671+21A>T (n.5671+21A>T) n.4345+21A>T c.670+21A>T (n.670+21A>T) c.*1434+21A>T (n.*1434+21A>T) c.978+21A>T | gnomAD v4 |
| 15 | g.48448747T>C | CA2175498081 | FBN1 | c.5671+21A>G (n.5671+21A>G) n.4345+21A>G c.670+21A>G (n.670+21A>G) c.*1434+21A>G (n.*1434+21A>G) c.978+21A>G | dbSNP |
| 15 | g.48448747T>G | CA2730673174 | FBN1 | c.5671+21A>C (n.5671+21A>C) n.4345+21A>C c.670+21A>C (n.670+21A>C) c.*1434+21A>C (n.*1434+21A>C) c.978+21A>C | dbSNP |
| 15 | g.48448747T= | CA2175498079 | FBN1 | c.5671+21A= (n.5671+21A=) n.4345+21A= c.670+21A= (n.670+21A=) c.*1434+21A= (n.*1434+21A=) c.978+21A= | |
| 15 | g.48448747_48448748insGA | CA2499528168 | FBN1 | c.5671+20_5671+21insTC (n.5671+20_5671+21insTC) n.4345+20_4345+21insTC c.670+20_670+21insTC (n.670+20_670+21insTC) c.*1434+20_*1434+21insTC (n.*1434+20_*1434+21insTC) c.978+20_978+21insTC | |
| 15 | g.48448749A= | CA2175498085 | FBN1 | c.5671+19T= (n.5671+19T=) n.4345+19T= c.670+19T= (n.670+19T=) c.*1434+19T= (n.*1434+19T=) c.978+19T= | |
| 15 | g.48448749A>G | CA055348 | FBN1 | c.5671+19T>C (n.5671+19T>C) n.4345+19T>C c.670+19T>C (n.670+19T>C) c.*1434+19T>C (n.*1434+19T>C) c.978+19T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448750T>C | CA2628347961 | FBN1 | c.5671+18A>G (n.5671+18A>G) n.4345+18A>G c.670+18A>G (n.670+18A>G) c.*1434+18A>G (n.*1434+18A>G) c.978+18A>G | gnomAD v4 |
| 15 | g.48448751A>G | CA2515749860 | FBN1 | c.5671+17T>C (n.5671+17T>C) n.4345+17T>C c.670+17T>C (n.670+17T>C) c.*1434+17T>C (n.*1434+17T>C) c.978+17T>C | |
| 15 | g.48448754A= | CA2175498091 | FBN1 | c.5671+14T= (n.5671+14T=) n.4345+14T= c.670+14T= (n.670+14T=) c.*1434+14T= (n.*1434+14T=) c.978+14T= | |
| 15 | g.48448754A>G | CA617837661 | FBN1 | c.5671+14T>C (n.5671+14T>C) n.4345+14T>C c.670+14T>C (n.670+14T>C) c.*1434+14T>C (n.*1434+14T>C) c.978+14T>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48448755A>G | CA2533303990 | FBN1 | c.5671+13T>C (n.5671+13T>C) n.4345+13T>C c.670+13T>C (n.670+13T>C) c.*1434+13T>C (n.*1434+13T>C) c.978+13T>C | |
| 15 | g.48448755_48448757dup | CA7547913 | FBN1 | c.5671+11_5671+13dup (n.5671+11_5671+13dup) n.4345+11_4345+13dup c.670+11_670+13dup (n.670+11_670+13dup) c.*1434+11_*1434+13dup (n.*1434+11_*1434+13dup) c.978+11_978+13dup | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48448756T>C | CA2628347962 | FBN1 | c.5671+12A>G (n.5671+12A>G) n.4345+12A>G c.670+12A>G (n.670+12A>G) c.*1434+12A>G (n.*1434+12A>G) c.978+12A>G | gnomAD v4 |
| 15 | g.48448758G>A | CA969551142 | FBN1 | c.5671+10C>T (n.5671+10C>T) n.4345+10C>T c.670+10C>T (n.670+10C>T) c.*1434+10C>T (n.*1434+10C>T) c.978+10C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448758G= | CA2175498103 | FBN1 | c.5671+10C= (n.5671+10C=) n.4345+10C= c.670+10C= (n.670+10C=) c.*1434+10C= (n.*1434+10C=) c.978+10C= | |
| 15 | g.48448759C>T | CA2628347963 | FBN1 | c.5671+9G>A (n.5671+9G>A) n.4345+9G>A c.670+9G>A (n.670+9G>A) c.*1434+9G>A (n.*1434+9G>A) c.978+9G>A | gnomAD v4 |
| 15 | g.48448761T>C | CA055373 | FBN1 | c.5671+7A>G (n.5671+7A>G) n.4345+7A>G c.670+7A>G (n.670+7A>G) c.*1434+7A>G (n.*1434+7A>G) c.978+7A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448761T= | CA2175498105 | FBN1 | c.5671+7A= (n.5671+7A=) n.4345+7A= c.670+7A= (n.670+7A=) c.*1434+7A= (n.*1434+7A=) c.978+7A= | |
| 15 | g.48448762A>G | CA2628347964 | FBN1 | c.5671+6T>C (n.5671+6T>C) n.4345+6T>C c.670+6T>C (n.670+6T>C) c.*1434+6T>C (n.*1434+6T>C) c.978+6T>C | gnomAD v4 |
| 15 | g.48448762A>T | CA2825002264 | FBN1 | c.5671+6T>A (n.5671+6T>A) n.4345+6T>A c.670+6T>A (n.670+6T>A) c.*1434+6T>A (n.*1434+6T>A) c.978+6T>A | ClinVar |
| 15 | g.48448764T>C | CA2628347965 | FBN1 | c.5671+4A>G (n.5671+4A>G) n.4345+4A>G c.670+4A>G (n.670+4A>G) c.*1434+4A>G (n.*1434+4A>G) c.978+4A>G | gnomAD v4 |
| 15 | g.48448764T>G | CA2175498116 | FBN1 | c.5671+4A>C (n.5671+4A>C) n.4345+4A>C c.670+4A>C (n.670+4A>C) c.*1434+4A>C (n.*1434+4A>C) c.978+4A>C | dbSNP |
| 15 | g.48448764T= | CA2175498113 | FBN1 | c.5671+4A= (n.5671+4A=) n.4345+4A= c.670+4A= (n.670+4A=) c.*1434+4A= (n.*1434+4A=) c.978+4A= | |
| 15 | g.48448765T>C | CA2526244767 | FBN1 | c.5671+3A>G (n.5671+3A>G) n.4345+3A>G c.670+3A>G (n.670+3A>G) c.*1434+3A>G (n.*1434+3A>G) c.978+3A>G | gnomAD v4 |
| 15 | g.48448765_48448766insGG | CA2695220278 | FBN1 | c.5671+2_5671+3insCC (n.5671+2_5671+3insCC) n.4345+2_4345+3insCC c.670+2_670+3insCC (n.670+2_670+3insCC) c.*1434+2_*1434+3insCC (n.*1434+2_*1434+3insCC) c.978+2_978+3insCC | |
| 15 | g.48448766A>C | CA392341621 | FBN1 | c.5671+2T>G (n.5671+2T>G) n.4345+2T>G c.670+2T>G (n.670+2T>G) c.*1434+2T>G (n.*1434+2T>G) c.978+2T>G | |
| 15 | g.48448766A>G | CA392341623 | FBN1 | c.5671+2T>C (n.5671+2T>C) n.4345+2T>C c.670+2T>C (n.670+2T>C) c.*1434+2T>C (n.*1434+2T>C) c.978+2T>C | ClinVar |
| 15 | g.48448766A>T | CA392341625 | FBN1 | c.5671+2T>A (n.5671+2T>A) n.4345+2T>A c.670+2T>A (n.670+2T>A) c.*1434+2T>A (n.*1434+2T>A) c.978+2T>A | |
| 15 | g.48448767C>A | CA392341627 | FBN1 | c.5671+1G>T (n.5671+1G>T) n.4345+1G>T c.670+1G>T (n.670+1G>T) c.*1434+1G>T (n.*1434+1G>T) c.978+1G>T | ClinVar dbSNP |
| 15 | g.48448767C= | CA2175498123 | FBN1 | c.5671+1G= (n.5671+1G=) n.4345+1G= c.670+1G= (n.670+1G=) c.*1434+1G= (n.*1434+1G=) c.978+1G= | |
| 15 | g.48448767C>G | CA392341629 | FBN1 | c.5671+1G>C (n.5671+1G>C) n.4345+1G>C c.670+1G>C (n.670+1G>C) c.*1434+1G>C (n.*1434+1G>C) c.978+1G>C | |
| 15 | g.48448767C>T | CA269534972 | FBN1 | c.5671+1G>A (n.5671+1G>A) n.4345+1G>A c.670+1G>A (n.670+1G>A) c.*1434+1G>A (n.*1434+1G>A) c.978+1G>A | ClinVar dbSNP |
| 15 | g.48448769del | CA2573150908 | FBN1 | c.5671+1del n.4345+1del c.670+1del c.*1434+1del c.978+1del | ClinVar dbSNP |
| 15 | g.48448768C>A | CA392341633 | FBN1 | c.5671G>T (p.Asp1891Tyr) n.4345G>T c.670G>T (p.Asp224Tyr) c.*1434G>T (n.*1434G>T) c.978G>T | ClinVar |
| 15 | g.48448768C= | CA2175498135 | FBN1 | c.5671G= (p.Asp1891=) n.4345G= c.670G= (p.Asp224=) c.*1434G= (n.*1434G=) c.978G= | |
| 15 | g.48448768C>G | CA015930 | FBN1 | c.5671G>C (p.Asp1891His) n.4345G>C c.670G>C (p.Asp224His) c.*1434G>C (n.*1434G>C) c.978G>C | ClinVar dbSNP |
| 15 | g.48448768C>T | CA392341636 | FBN1 | c.5671G>A (p.Asp1891Asn) n.4345G>A c.670G>A (p.Asp224Asn) c.*1434G>A (n.*1434G>A) c.978G>A | ClinVar dbSNP |
| 15 | g.48448771_48448772insTCCAA | CA2825002265 | FBN1 | c.5671_5671+1insATTGG (p.Ile1892TrpfsTer3) n.4345_4345+1insATTGG c.670_670+1insATTGG (p.Ile225TrpfsTer3) c.*1434_*1434+1insATTGG (n.*1434_*1434+1insATTGG) c.978_978+1insATTGG | ClinVar |
| 15 | g.48448769C>A | CA392341638 | FBN1 | c.5670G>T (p.Leu1890Phe) n.4344G>T c.669G>T (p.Leu223Phe) c.*1433G>T (n.*1433G>T) c.977G>T | gnomAD v4 |
| 15 | g.48448769C= | CA2175498143 | FBN1 | c.5670G= (p.Leu1890=) n.4344G= c.669G= (p.Leu223=) c.*1433G= (n.*1433G=) c.977G= | |
| 15 | g.48448769C>G | CA392341640 | FBN1 | c.5670G>C (p.Leu1890Phe) n.4344G>C c.669G>C (p.Leu223Phe) c.*1433G>C (n.*1433G>C) c.977G>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48448769C>T | CA055342 | FBN1 | c.5670G>A (p.Leu1890=) n.4344G>A c.669G>A (p.Leu223=) c.*1433G>A (n.*1433G>A) c.977G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448770A>C | CA392341643 | FBN1 | c.5669T>G (p.Leu1890Trp) n.4343T>G c.668T>G (p.Leu223Trp) c.*1432T>G (n.*1432T>G) c.976T>G | |
| 15 | g.48448770A>G | CA392341647 | FBN1 | c.5669T>C (p.Leu1890Ser) n.4343T>C c.668T>C (p.Leu223Ser) c.*1432T>C (n.*1432T>C) c.976T>C | |
| 15 | g.48448770A>T | CA392341645 | FBN1 | c.5669T>A (p.Leu1890Ter) n.4343T>A c.668T>A (p.Leu223Ter) c.*1432T>A (n.*1432T>A) c.976T>A | |
| 15 | g.48448771A>C | CA392341649 | FBN1 | c.5668T>G (p.Leu1890Val) n.4342T>G c.667T>G (p.Leu223Val) c.*1431T>G (n.*1431T>G) c.975T>G | |
| 15 | g.48448771A>G | CA490023105 | FBN1 | c.5668T>C (p.Leu1890=) n.4342T>C c.667T>C (p.Leu223=) c.*1431T>C (n.*1431T>C) c.975T>C | |
| 15 | g.48448771A>T | CA392341651 | FBN1 | c.5668T>A (p.Leu1890Met) n.4342T>A c.667T>A (p.Leu223Met) c.*1431T>A (n.*1431T>A) c.975T>A | |
| 15 | g.48448772G>A | CA490023106 | FBN1 | c.5667C>T (p.Cys1889=) n.4341C>T c.666C>T (p.Cys222=) c.*1430C>T (n.*1430C>T) c.974C>T | gnomAD v4 |
| 15 | g.48448772G>C | CA392341653 | FBN1 | c.5667C>G (p.Cys1889Trp) n.4341C>G c.666C>G (p.Cys222Trp) c.*1430C>G (n.*1430C>G) c.974C>G | ClinVar |
| 15 | g.48448772G>T | CA392341655 | FBN1 | c.5667C>A (p.Cys1889Ter) n.4341C>A c.666C>A (p.Cys222Ter) c.*1430C>A (n.*1430C>A) c.974C>A | |
| 15 | g.48448773C>A | CA392341657 | FBN1 | c.5666G>T (p.Cys1889Phe) n.4340G>T c.665G>T (p.Cys222Phe) c.*1429G>T (n.*1429G>T) c.973G>T | ClinVar dbSNP COSMIC |
| 15 | g.48448773C= | CA2175498149 | FBN1 | c.5666G= (p.Cys1889=) n.4340G= c.665G= (p.Cys222=) c.*1429G= (n.*1429G=) c.973G= | |
| 15 | g.48448773C>G | CA392341659 | FBN1 | c.5666G>C (p.Cys1889Ser) n.4340G>C c.665G>C (p.Cys222Ser) c.*1429G>C (n.*1429G>C) c.973G>C | |
| 15 | g.48448773C>T | CA392341661 | FBN1 | c.5666G>A (p.Cys1889Tyr) n.4340G>A c.665G>A (p.Cys222Tyr) c.*1429G>A (n.*1429G>A) c.973G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48448774A>C | CA392341664 | FBN1 | c.5665T>G (p.Cys1889Gly) n.4339T>G c.664T>G (p.Cys222Gly) c.*1428T>G (n.*1428T>G) c.972T>G | |
| 15 | g.48448774A>G | CA392341666 | FBN1 | c.5665T>C (p.Cys1889Arg) n.4339T>C c.664T>C (p.Cys222Arg) c.*1428T>C (n.*1428T>C) c.972T>C | ClinVar |
| 15 | g.48448774A>T | CA392341669 | FBN1 | c.5665T>A (p.Cys1889Ser) n.4339T>A c.664T>A (p.Cys222Ser) c.*1428T>A (n.*1428T>A) c.972T>A | |
| 15 | g.48448774_48448777dup | CA2695220280 | FBN1 | c.5662_5665dup (p.Cys1889TyrfsTer7) n.4336_4339dup c.661_664dup (p.Cys222TyrfsTer7) c.*1425_*1428dup (n.*1425_*1428dup) c.969_972dup | |
| 15 | g.48448774_48448782delinsGC | CA2580089535 | FBN1 | c.5657_5665delinsGC (p.Gln1886ArgfsTer5) n.4331_4339delinsGC c.656_664delinsGC (p.Gln219ArgfsTer5) c.*1420_*1428delinsGC (n.*1420_*1428delinsGC) c.964_972delinsGC | ClinVar |
| 15 | g.48448775C>A | CA392341672 | FBN1 | c.5664G>T (p.Met1888Ile) n.4338G>T c.663G>T (p.Met221Ile) c.*1427G>T (n.*1427G>T) c.971G>T | |
| 15 | g.48448775C= | CA2175498160 | FBN1 | c.5664G= (p.Met1888=) n.4338G= c.663G= (p.Met221=) c.*1427G= (n.*1427G=) c.971G= | |
| 15 | g.48448775C>G | CA392341674 | FBN1 | c.5664G>C (p.Met1888Ile) n.4338G>C c.663G>C (p.Met221Ile) c.*1427G>C (n.*1427G>C) c.971G>C | |
| 15 | g.48448775C>T | CA16614639 | FBN1 | c.5664G>A (p.Met1888Ile) n.4338G>A c.663G>A (p.Met221Ile) c.*1427G>A (n.*1427G>A) c.971G>A | ClinVar dbSNP |
| 15 | g.48448775_48448776delinsCA | CA2175498170 | FBN1 | c.5663_5664delinsTG (p.Met1888=) n.4337_4338delinsTG c.662_663delinsTG (p.Met221=) c.*1426_*1427delinsTG (n.*1426_*1427delinsTG) c.970_971delinsTG | |
| 15 | g.48448776del | CA658683893 | FBN1 | c.5663del (p.Met1888SerfsTer5) n.4337del c.662del (p.Met221SerfsTer5) c.*1426del (n.*1426del) c.970del | ClinVar dbSNP |
| 15 | g.48448776A>C | CA392341677 | FBN1 | c.5663T>G (p.Met1888Arg) n.4337T>G c.662T>G (p.Met221Arg) c.*1426T>G (n.*1426T>G) c.970T>G | |
| 15 | g.48448776A>G | CA392341680 | FBN1 | c.5663T>C (p.Met1888Thr) n.4337T>C c.662T>C (p.Met221Thr) c.*1426T>C (n.*1426T>C) c.970T>C | |
| 15 | g.48448776A>T | CA392341682 | FBN1 | c.5663T>A (p.Met1888Lys) n.4337T>A c.662T>A (p.Met221Lys) c.*1426T>A (n.*1426T>A) c.970T>A | |
| 15 | g.48448777T>A | CA055331 | FBN1 | c.5662A>T (p.Met1888Leu) n.4336A>T c.661A>T (p.Met221Leu) c.*1425A>T (n.*1425A>T) c.969A>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48448777T>C | CA392341685 | FBN1 | c.5662A>G (p.Met1888Val) n.4336A>G c.661A>G (p.Met221Val) c.*1425A>G (n.*1425A>G) c.969A>G | gnomAD v4 |
| 15 | g.48448777T>G | CA392341687 | FBN1 | c.5662A>C (p.Met1888Leu) n.4336A>C c.661A>C (p.Met221Leu) c.*1425A>C (n.*1425A>C) c.969A>C | |
| 15 | g.48448777T= | CA2175498180 | FBN1 | c.5662A= (p.Met1888=) n.4336A= c.661A= (p.Met221=) c.*1425A= (n.*1425A=) c.969A= | |
| 15 | g.48448778G>A | CA490023108 | FBN1 | c.5661C>T (p.Thr1887=) n.4335C>T c.660C>T (p.Thr220=) c.*1424C>T (n.*1424C>T) c.968C>T | |
| 15 | g.48448778G>C | CA490023110 | FBN1 | c.5661C>G (p.Thr1887=) n.4335C>G c.660C>G (p.Thr220=) c.*1424C>G (n.*1424C>G) c.968C>G | |
| 15 | g.48448778G>T | CA490023109 | FBN1 | c.5661C>A (p.Thr1887=) n.4335C>A c.660C>A (p.Thr220=) c.*1424C>A (n.*1424C>A) c.968C>A | gnomAD v4 |
| 15 | g.48448779G>A | CA392341691 | FBN1 | c.5660C>T (p.Thr1887Ile) n.4334C>T c.659C>T (p.Thr220Ile) c.*1423C>T (n.*1423C>T) c.967C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448779G>C | CA392341694 | FBN1 | c.5660C>G (p.Thr1887Ser) n.4334C>G c.659C>G (p.Thr220Ser) c.*1423C>G (n.*1423C>G) c.967C>G | |
| 15 | g.48448779G= | CA2175498186 | FBN1 | c.5660C= (p.Thr1887=) n.4334C= c.659C= (p.Thr220=) c.*1423C= (n.*1423C=) c.967C= | |
| 15 | g.48448779G>T | CA392341697 | FBN1 | c.5660C>A (p.Thr1887Asn) n.4334C>A c.659C>A (p.Thr220Asn) c.*1423C>A (n.*1423C>A) c.967C>A | |
| 15 | g.48448780T>A | CA392341700 | FBN1 | c.5659A>T (p.Thr1887Ser) n.4333A>T c.658A>T (p.Thr220Ser) c.*1422A>T (n.*1422A>T) c.966A>T | |
| 15 | g.48448780T>C | CA392341702 | FBN1 | c.5659A>G (p.Thr1887Ala) n.4333A>G c.658A>G (p.Thr220Ala) c.*1422A>G (n.*1422A>G) c.966A>G | |
| 15 | g.48448780T>G | CA392341704 | FBN1 | c.5659A>C (p.Thr1887Pro) n.4333A>C c.658A>C (p.Thr220Pro) c.*1422A>C (n.*1422A>C) c.966A>C | |
| 15 | g.48448781T>A | CA392341707 | FBN1 | c.5658A>T (p.Gln1886His) n.4332A>T c.657A>T (p.Gln219His) c.*1421A>T (n.*1421A>T) c.965A>T | |
| 15 | g.48448781T>C | CA490023113 | FBN1 | c.5658A>G (p.Gln1886=) n.4332A>G c.657A>G (p.Gln219=) c.*1421A>G (n.*1421A>G) c.965A>G | gnomAD v4 |
| 15 | g.48448781T>G | CA392341708 | FBN1 | c.5658A>C (p.Gln1886His) n.4332A>C c.657A>C (p.Gln219His) c.*1421A>C (n.*1421A>C) c.965A>C | |
| 15 | g.48448782T>A | CA392341710 | FBN1 | c.5657A>T (p.Gln1886Leu) n.4331A>T c.656A>T (p.Gln219Leu) c.*1420A>T (n.*1420A>T) c.964A>T | |
| 15 | g.48448782T>C | CA392341712 | FBN1 | c.5657A>G (p.Gln1886Arg) n.4331A>G c.656A>G (p.Gln219Arg) c.*1420A>G (n.*1420A>G) c.964A>G | |
| 15 | g.48448782T>G | CA392341714 | FBN1 | c.5657A>C (p.Gln1886Pro) n.4331A>C c.656A>C (p.Gln219Pro) c.*1420A>C (n.*1420A>C) c.964A>C | |
| 15 | g.48448783G>A | CA392341721 | FBN1 | c.5656C>T (p.Gln1886Ter) n.4330C>T c.655C>T (p.Gln219Ter) c.*1419C>T (n.*1419C>T) c.963C>T | ClinVar |
| 15 | g.48448783G>C | CA269534994 | FBN1 | c.5656C>G (p.Gln1886Glu) n.4330C>G c.655C>G (p.Gln219Glu) c.*1419C>G (n.*1419C>G) c.963C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448783G= | CA2175498207 | FBN1 | c.5656C= (p.Gln1886=) n.4330C= c.655C= (p.Gln219=) c.*1419C= (n.*1419C=) c.963C= | |
| 15 | g.48448783G>T | CA392341718 | FBN1 | c.5656C>A (p.Gln1886Lys) n.4330C>A c.655C>A (p.Gln219Lys) c.*1419C>A (n.*1419C>A) c.963C>A | gnomAD v4 |
| 15 | g.48448784G>A | CA490023114 | FBN1 | c.5655C>T (p.Asp1885=) n.4329C>T c.654C>T (p.Asp218=) c.*1418C>T (n.*1418C>T) c.962C>T | |
| 15 | g.48448784G>C | CA392341724 | FBN1 | c.5655C>G (p.Asp1885Glu) n.4329C>G c.654C>G (p.Asp218Glu) c.*1418C>G (n.*1418C>G) c.962C>G | ClinVar |
| 15 | g.48448784G>T | CA392341726 | FBN1 | c.5655C>A (p.Asp1885Glu) n.4329C>A c.654C>A (p.Asp218Glu) c.*1418C>A (n.*1418C>A) c.962C>A | |
| 15 | g.48448785T>A | CA392341727 | FBN1 | c.5654A>T (p.Asp1885Val) n.4328A>T c.653A>T (p.Asp218Val) c.*1417A>T (n.*1417A>T) c.961A>T | |
| 15 | g.48448785T>C | CA392341728 | FBN1 | c.5654A>G (p.Asp1885Gly) n.4328A>G c.653A>G (p.Asp218Gly) c.*1417A>G (n.*1417A>G) c.961A>G | |
| 15 | g.48448785T>G | CA392341729 | FBN1 | c.5654A>C (p.Asp1885Ala) n.4328A>C c.653A>C (p.Asp218Ala) c.*1417A>C (n.*1417A>C) c.961A>C | |
| 15 | g.48448786C>A | CA392341731 | FBN1 | c.5653G>T (p.Asp1885Tyr) n.4327G>T c.652G>T (p.Asp218Tyr) c.*1416G>T (n.*1416G>T) c.960G>T | gnomAD v4 |
| 15 | g.48448786C>G | CA392341733 | FBN1 | c.5653G>C (p.Asp1885His) n.4327G>C c.652G>C (p.Asp218His) c.*1416G>C (n.*1416G>C) c.960G>C | |
| 15 | g.48448786C>T | CA392341734 | FBN1 | c.5653G>A (p.Asp1885Asn) n.4327G>A c.652G>A (p.Asp218Asn) c.*1416G>A (n.*1416G>A) c.960G>A | |
| 15 | g.48448787A>C | CA392341735 | FBN1 | c.5652T>G (p.Asp1884Glu) n.4326T>G c.651T>G (p.Asp217Glu) c.*1415T>G (n.*1415T>G) c.959T>G | |
| 15 | g.48448787A>G | CA490023116 | FBN1 | c.5652T>C (p.Asp1884=) n.4326T>C c.651T>C (p.Asp217=) c.*1415T>C (n.*1415T>C) c.959T>C | |
| 15 | g.48448787A>T | CA392341737 | FBN1 | c.5652T>A (p.Asp1884Glu) n.4326T>A c.651T>A (p.Asp217Glu) c.*1415T>A (n.*1415T>A) c.959T>A | |
| 15 | g.48448788T>A | CA392341739 | FBN1 | c.5651A>T (p.Asp1884Val) n.4325A>T c.650A>T (p.Asp217Val) c.*1414A>T (n.*1414A>T) c.958A>T | ClinVar gnomAD v4 |
| 15 | g.48448788T>C | CA392341740 | FBN1 | c.5651A>G (p.Asp1884Gly) n.4325A>G c.650A>G (p.Asp217Gly) c.*1414A>G (n.*1414A>G) c.958A>G | |
| 15 | g.48448788T>G | CA392341741 | FBN1 | c.5651A>C (p.Asp1884Ala) n.4325A>C c.650A>C (p.Asp217Ala) c.*1414A>C (n.*1414A>C) c.958A>C | |
| 15 | g.48448789C>A | CA392341746 | FBN1 | c.5650G>T (p.Asp1884Tyr) n.4324G>T c.649G>T (p.Asp217Tyr) c.*1413G>T (n.*1413G>T) c.957G>T | |
| 15 | g.48448789C= | CA2175498212 | FBN1 | c.5650G= (p.Asp1884=) n.4324G= c.649G= (p.Asp217=) c.*1413G= (n.*1413G=) c.957G= | |
| 15 | g.48448789C>G | CA392341752 | FBN1 | c.5650G>C (p.Asp1884His) n.4324G>C c.649G>C (p.Asp217His) c.*1413G>C (n.*1413G>C) c.957G>C | |
| 15 | g.48448789C>T | CA392341750 | FBN1 | c.5650G>A (p.Asp1884Asn) n.4324G>A c.649G>A (p.Asp217Asn) c.*1413G>A (n.*1413G>A) c.957G>A | dbSNP |
| 15 | g.48448790A= | CA2175498218 | FBN1 | c.5649T= (p.Asn1883=) n.4323T= c.648T= (p.Asn216=) c.*1412T= (n.*1412T=) c.956T= | |
| 15 | g.48448790A>C | CA392341755 | FBN1 | c.5649T>G (p.Asn1883Lys) n.4323T>G c.648T>G (p.Asn216Lys) c.*1412T>G (n.*1412T>G) c.956T>G | |
| 15 | g.48448790A>G | CA490023117 | FBN1 | c.5649T>C (p.Asn1883=) n.4323T>C c.648T>C (p.Asn216=) c.*1412T>C (n.*1412T>C) c.956T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48448790A>T | CA392341757 | FBN1 | c.5649T>A (p.Asn1883Lys) n.4323T>A c.648T>A (p.Asn216Lys) c.*1412T>A (n.*1412T>A) c.956T>A | |
| 15 | g.48448791T>A | CA392341759 | FBN1 | c.5648A>T (p.Asn1883Ile) n.4322A>T c.647A>T (p.Asn216Ile) c.*1411A>T (n.*1411A>T) c.955A>T | |
| 15 | g.48448791T>C | CA055324 | FBN1 | c.5648A>G (p.Asn1883Ser) n.4322A>G c.647A>G (p.Asn216Ser) c.*1411A>G (n.*1411A>G) c.955A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448791T>G | CA392341762 | FBN1 | c.5648A>C (p.Asn1883Thr) n.4322A>C c.647A>C (p.Asn216Thr) c.*1411A>C (n.*1411A>C) c.955A>C | |
| 15 | g.48448791T= | CA2175498226 | FBN1 | c.5648A= (p.Asn1883=) n.4322A= c.647A= (p.Asn216=) c.*1411A= (n.*1411A=) c.955A= | |
| 15 | g.48448792T>A | CA392341764 | FBN1 | c.5647A>T (p.Asn1883Tyr) n.4321A>T c.646A>T (p.Asn216Tyr) c.*1410A>T (n.*1410A>T) c.954A>T | |
| 15 | g.48448792T>C | CA392341767 | FBN1 | c.5647A>G (p.Asn1883Asp) n.4321A>G c.646A>G (p.Asn216Asp) c.*1410A>G (n.*1410A>G) c.954A>G | |
| 15 | g.48448792T>G | CA392341768 | FBN1 | c.5647A>C (p.Asn1883His) n.4321A>C c.646A>C (p.Asn216His) c.*1410A>C (n.*1410A>C) c.954A>C | |
| 15 | g.48448793T>A | CA490023120 | FBN1 | c.5646A>T (p.Thr1882=) n.4320A>T c.645A>T (p.Thr215=) c.*1409A>T (n.*1409A>T) c.953A>T | |
| 15 | g.48448793T>C | CA490023119 | FBN1 | c.5646A>G (p.Thr1882=) n.4320A>G c.645A>G (p.Thr215=) c.*1409A>G (n.*1409A>G) c.953A>G | |
| 15 | g.48448793T>G | CA490023118 | FBN1 | c.5646A>C (p.Thr1882=) n.4320A>C c.645A>C (p.Thr215=) c.*1409A>C (n.*1409A>C) c.953A>C | |
| 15 | g.48448794G>A | CA269535006 | FBN1 | c.5645C>T (p.Thr1882Ile) n.4319C>T c.644C>T (p.Thr215Ile) c.*1408C>T (n.*1408C>T) c.952C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448794G>C | CA392341773 | FBN1 | c.5645C>G (p.Thr1882Arg) n.4319C>G c.644C>G (p.Thr215Arg) c.*1408C>G (n.*1408C>G) c.952C>G | |
| 15 | g.48448794G= | CA2175498228 | FBN1 | c.5645C= (p.Thr1882=) n.4319C= c.644C= (p.Thr215=) c.*1408C= (n.*1408C=) c.952C= | |
| 15 | g.48448794G>T | CA392341779 | FBN1 | c.5645C>A (p.Thr1882Lys) n.4319C>A c.644C>A (p.Thr215Lys) c.*1408C>A (n.*1408C>A) c.952C>A | |
| 15 | g.48448795T>A | CA392341783 | FBN1 | c.5644A>T (p.Thr1882Ser) n.4318A>T c.643A>T (p.Thr215Ser) c.*1407A>T (n.*1407A>T) c.951A>T | |
| 15 | g.48448795T>C | CA055315 | FBN1 | c.5644A>G (p.Thr1882Ala) n.4318A>G c.643A>G (p.Thr215Ala) c.*1407A>G (n.*1407A>G) c.951A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448795T>G | CA392341781 | FBN1 | c.5644A>C (p.Thr1882Pro) n.4318A>C c.643A>C (p.Thr215Pro) c.*1407A>C (n.*1407A>C) c.951A>C | |
| 15 | g.48448795T= | CA2175498232 | FBN1 | c.5644A= (p.Thr1882=) n.4318A= c.643A= (p.Thr215=) c.*1407A= (n.*1407A=) c.951A= | |
| 15 | g.48448796T>A | CA392341785 | FBN1 | c.5643A>T (p.Lys1881Asn) n.4317A>T c.642A>T (p.Lys214Asn) c.*1406A>T (n.*1406A>T) c.950A>T | |
| 15 | g.48448796T>C | CA490023123 | FBN1 | c.5643A>G (p.Lys1881=) n.4317A>G c.642A>G (p.Lys214=) c.*1406A>G (n.*1406A>G) c.950A>G | |
| 15 | g.48448796T>G | CA392341786 | FBN1 | c.5643A>C (p.Lys1881Asn) n.4317A>C c.642A>C (p.Lys214Asn) c.*1406A>C (n.*1406A>C) c.950A>C | ClinVar dbSNP |
| 15 | g.48448796T= | CA2175498242 | FBN1 | c.5643A= (p.Lys1881=) n.4317A= c.642A= (p.Lys214=) c.*1406A= (n.*1406A=) c.950A= | |
| 15 | g.48448797T>A | CA392341787 | FBN1 | c.5642A>T (p.Lys1881Ile) n.4316A>T c.641A>T (p.Lys214Ile) c.*1405A>T (n.*1405A>T) c.949A>T | |
| 15 | g.48448797T>C | CA392341788 | FBN1 | c.5642A>G (p.Lys1881Arg) n.4316A>G c.641A>G (p.Lys214Arg) c.*1405A>G (n.*1405A>G) c.949A>G | |
| 15 | g.48448797T>G | CA392341791 | FBN1 | c.5642A>C (p.Lys1881Thr) n.4316A>C c.641A>C (p.Lys214Thr) c.*1405A>C (n.*1405A>C) c.949A>C | |
| 15 | g.48448798T>A | CA392341794 | FBN1 | c.5641A>T (p.Lys1881Ter) n.4315A>T c.640A>T (p.Lys214Ter) c.*1404A>T (n.*1404A>T) c.948A>T | |
| 15 | g.48448798T>C | CA392341796 | FBN1 | c.5641A>G (p.Lys1881Glu) n.4315A>G c.640A>G (p.Lys214Glu) c.*1404A>G (n.*1404A>G) c.948A>G | |
| 15 | g.48448798T>G | CA392341800 | FBN1 | c.5641A>C (p.Lys1881Gln) n.4315A>C c.640A>C (p.Lys214Gln) c.*1404A>C (n.*1404A>C) c.948A>C | |
| 15 | g.48448799A>C | CA392341803 | FBN1 | c.5640T>G (p.Phe1880Leu) n.4314T>G c.639T>G (p.Phe213Leu) c.*1403T>G (n.*1403T>G) c.947T>G | |
| 15 | g.48448799A>G | CA490023128 | FBN1 | c.5640T>C (p.Phe1880=) n.4314T>C c.639T>C (p.Phe213=) c.*1403T>C (n.*1403T>C) c.947T>C | |
| 15 | g.48448799A>T | CA392341805 | FBN1 | c.5640T>A (p.Phe1880Leu) n.4314T>A c.639T>A (p.Phe213Leu) c.*1403T>A (n.*1403T>A) c.947T>A | |
| 15 | g.48448800A= | CA2175498247 | FBN1 | c.5639T= (p.Phe1880=) n.4313T= c.638T= (p.Phe213=) c.*1402T= (n.*1402T=) c.946T= | |
| 15 | g.48448800A>C | CA392341808 | FBN1 | c.5639T>G (p.Phe1880Cys) n.4313T>G c.638T>G (p.Phe213Cys) c.*1402T>G (n.*1402T>G) c.946T>G | |
| 15 | g.48448800A>G | CA392341810 | FBN1 | c.5639T>C (p.Phe1880Ser) n.4313T>C c.638T>C (p.Phe213Ser) c.*1402T>C (n.*1402T>C) c.946T>C | ClinVar dbSNP |
| 15 | g.48448800A>T | CA392341812 | FBN1 | c.5639T>A (p.Phe1880Tyr) n.4313T>A c.638T>A (p.Phe213Tyr) c.*1402T>A (n.*1402T>A) c.946T>A | |
| 15 | g.48448801A= | CA2175498255 | FBN1 | c.5638T= (p.Phe1880=) n.4312T= c.637T= (p.Phe213=) c.*1401T= (n.*1401T=) c.945T= | |
| 15 | g.48448801A>C | CA392341818 | FBN1 | c.5638T>G (p.Phe1880Val) n.4312T>G c.637T>G (p.Phe213Val) c.*1401T>G (n.*1401T>G) c.945T>G | ClinVar dbSNP |
| 15 | g.48448801A>G | CA392341816 | FBN1 | c.5638T>C (p.Phe1880Leu) n.4312T>C c.637T>C (p.Phe213Leu) c.*1401T>C (n.*1401T>C) c.945T>C | |
| 15 | g.48448801A>T | CA392341814 | FBN1 | c.5638T>A (p.Phe1880Ile) n.4312T>A c.637T>A (p.Phe213Ile) c.*1401T>A (n.*1401T>A) c.945T>A | |
| 15 | g.48448802A= | CA2175498268 | FBN1 | c.5637T= (p.Gly1879=) n.4311T= c.636T= (p.Gly212=) c.*1400T= (n.*1400T=) c.944T= | |
| 15 | g.48448802A>C | CA490023134 | FBN1 | c.5637T>G (p.Gly1879=) n.4311T>G c.636T>G (p.Gly212=) c.*1400T>G (n.*1400T>G) c.944T>G | ClinVar dbSNP |
| 15 | g.48448802A>G | CA490023135 | FBN1 | c.5637T>C (p.Gly1879=) n.4311T>C c.636T>C (p.Gly212=) c.*1400T>C (n.*1400T>C) c.944T>C | gnomAD v4 |
| 15 | g.48448802A>T | CA490023137 | FBN1 | c.5637T>A (p.Gly1879=) n.4311T>A c.636T>A (p.Gly212=) c.*1400T>A (n.*1400T>A) c.944T>A | |
| 15 | g.48448802_48448804delinsACC | CA2175498261 | FBN1 | c.5635_5637delinsGGT (p.Gly1879=) n.4309_4311delinsGGT c.634_636delinsGGT (p.Gly212=) c.*1398_*1400delinsGGT (n.*1398_*1400delinsGGT) c.942_944delinsGGT | |
| 15 | g.48448803C>A | CA392341820 | FBN1 | c.5636G>T (p.Gly1879Val) n.4310G>T c.635G>T (p.Gly212Val) c.*1399G>T (n.*1399G>T) c.943G>T | |
| 15 | g.48448803C= | CA2175498281 | FBN1 | c.5636G= (p.Gly1879=) n.4310G= c.635G= (p.Gly212=) c.*1399G= (n.*1399G=) c.943G= | |
| 15 | g.48448803C>G | CA392341822 | FBN1 | c.5636G>C (p.Gly1879Ala) n.4310G>C c.635G>C (p.Gly212Ala) c.*1399G>C (n.*1399G>C) c.943G>C | |
| 15 | g.48448803C>T | CA392341824 | FBN1 | c.5636G>A (p.Gly1879Asp) n.4310G>A c.635G>A (p.Gly212Asp) c.*1399G>A (n.*1399G>A) c.943G>A | ClinVar dbSNP |
| 15 | g.48448803_48448804del | CA658824298 | FBN1 | c.5635_5636del (p.Gly1879PhefsTer2) n.4309_4310del c.634_635del (p.Gly212PhefsTer2) c.*1398_*1399del (n.*1398_*1399del) c.942_943del | ClinVar dbSNP |
| 15 | g.48448804C>A | CA392341828 | FBN1 | c.5635G>T (p.Gly1879Cys) n.4309G>T c.634G>T (p.Gly212Cys) c.*1398G>T (n.*1398G>T) c.942G>T | |
| 15 | g.48448804C= | CA2175498291 | FBN1 | c.5635G= (p.Gly1879=) n.4309G= c.634G= (p.Gly212=) c.*1398G= (n.*1398G=) c.942G= | |
| 15 | g.48448804C>G | CA392341831 | FBN1 | c.5635G>C (p.Gly1879Arg) n.4309G>C c.634G>C (p.Gly212Arg) c.*1398G>C (n.*1398G>C) c.942G>C | ClinVar dbSNP |
| 15 | g.48448804C>T | CA392341832 | FBN1 | c.5635G>A (p.Gly1879Ser) n.4309G>A c.634G>A (p.Gly212Ser) c.*1398G>A (n.*1398G>A) c.942G>A | |
| 15 | g.48448805A>C | CA490023143 | FBN1 | c.5634T>G (p.Thr1878=) n.4308T>G c.633T>G (p.Thr211=) c.*1397T>G (n.*1397T>G) c.941T>G | |
| 15 | g.48448805A>G | CA490023145 | FBN1 | c.5634T>C (p.Thr1878=) n.4308T>C c.633T>C (p.Thr211=) c.*1397T>C (n.*1397T>C) c.941T>C | |
| 15 | g.48448805A>T | CA490023147 | FBN1 | c.5634T>A (p.Thr1878=) n.4308T>A c.633T>A (p.Thr211=) c.*1397T>A (n.*1397T>A) c.941T>A | |
| 15 | g.48448806G>A | CA392341833 | FBN1 | c.5633C>T (p.Thr1878Ile) n.4307C>T c.632C>T (p.Thr211Ile) c.*1396C>T (n.*1396C>T) c.940C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48448806G>C | CA392341834 | FBN1 | c.5633C>G (p.Thr1878Ser) n.4307C>G c.632C>G (p.Thr211Ser) c.*1396C>G (n.*1396C>G) c.940C>G | gnomAD v4 |
| 15 | g.48448806G= | CA2175498295 | FBN1 | c.5633C= (p.Thr1878=) n.4307C= c.632C= (p.Thr211=) c.*1396C= (n.*1396C=) c.940C= | |
| 15 | g.48448806G>T | CA392341836 | FBN1 | c.5633C>A (p.Thr1878Asn) n.4307C>A c.632C>A (p.Thr211Asn) c.*1396C>A (n.*1396C>A) c.940C>A | |
| 15 | g.48448807T>A | CA392341838 | FBN1 | c.5632A>T (p.Thr1878Ser) n.4306A>T c.631A>T (p.Thr211Ser) c.*1395A>T (n.*1395A>T) c.939A>T | |
| 15 | g.48448807T>C | CA392341839 | FBN1 | c.5632A>G (p.Thr1878Ala) n.4306A>G c.631A>G (p.Thr211Ala) c.*1395A>G (n.*1395A>G) c.939A>G | |
| 15 | g.48448807T>G | CA392341842 | FBN1 | c.5632A>C (p.Thr1878Pro) n.4306A>C c.631A>C (p.Thr211Pro) c.*1395A>C (n.*1395A>C) c.939A>C | |
| 15 | g.48448808G>A | CA490023155 | FBN1 | c.5631C>T (p.His1877=) n.4305C>T c.630C>T (p.His210=) c.*1394C>T (n.*1394C>T) c.938C>T | |
| 15 | g.48448808G>C | CA392341844 | FBN1 | c.5631C>G (p.His1877Gln) n.4305C>G c.630C>G (p.His210Gln) c.*1394C>G (n.*1394C>G) c.938C>G | |
| 15 | g.48448808G>T | CA392341845 | FBN1 | c.5631C>A (p.His1877Gln) n.4305C>A c.630C>A (p.His210Gln) c.*1394C>A (n.*1394C>A) c.938C>A | |
| 15 | g.48448809T>A | CA392341850 | FBN1 | c.5630A>T (p.His1877Leu) n.4304A>T c.629A>T (p.His210Leu) c.*1393A>T (n.*1393A>T) c.937A>T | |
| 15 | g.48448809T>C | CA055309 | FBN1 | c.5630A>G (p.His1877Arg) n.4304A>G c.629A>G (p.His210Arg) c.*1393A>G (n.*1393A>G) c.937A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48448809T>G | CA392341848 | FBN1 | c.5630A>C (p.His1877Pro) n.4304A>C c.629A>C (p.His210Pro) c.*1393A>C (n.*1393A>C) c.937A>C | |
| 15 | g.48448809T= | CA2175498298 | FBN1 | c.5630A= (p.His1877=) n.4304A= c.629A= (p.His210=) c.*1393A= (n.*1393A=) c.937A= | |
| 15 | g.48448810G>A | CA055301 | FBN1 | c.5629C>T (p.His1877Tyr) n.4303C>T c.628C>T (p.His210Tyr) c.*1392C>T (n.*1392C>T) c.936C>T | dbSNP ExAC |
| 15 | g.48448810G>C | CA392341851 | FBN1 | c.5629C>G (p.His1877Asp) n.4303C>G c.628C>G (p.His210Asp) c.*1392C>G (n.*1392C>G) c.936C>G | |
| 15 | g.48448810G= | CA2175498308 | FBN1 | c.5629C= (p.His1877=) n.4303C= c.628C= (p.His210=) c.*1392C= (n.*1392C=) c.936C= | |
| 15 | g.48448810G>T | CA392341854 | FBN1 | c.5629C>A (p.His1877Asn) n.4303C>A c.628C>A (p.His210Asn) c.*1392C>A (n.*1392C>A) c.936C>A | |
| 15 | g.48448811G>A | CA490023162 | FBN1 | c.5628C>T (p.Cys1876=) n.4302C>T c.627C>T (p.Cys209=) c.*1391C>T (n.*1391C>T) c.935C>T | |
| 15 | g.48448811G>C | CA392341857 | FBN1 | c.5628C>G (p.Cys1876Trp) n.4302C>G c.627C>G (p.Cys209Trp) c.*1391C>G (n.*1391C>G) c.935C>G | ClinVar dbSNP |
| 15 | g.48448811G>T | CA392341861 | FBN1 | c.5628C>A (p.Cys1876Ter) n.4302C>A c.627C>A (p.Cys209Ter) c.*1391C>A (n.*1391C>A) c.935C>A | ClinVar |
| 15 | g.48448812del | CA2628347966 | FBN1 | c.5627del (p.Cys1876SerfsTer17) n.4301del c.626del (p.Cys209SerfsTer17) c.*1390del (n.*1390del) c.934del | gnomAD v4 |
| 15 | g.48448812C>A | CA392341873 | FBN1 | c.5627G>T (p.Cys1876Phe) n.4301G>T c.626G>T (p.Cys209Phe) c.*1390G>T (n.*1390G>T) c.934G>T | |
| 15 | g.48448812C= | CA2175498320 | FBN1 | c.5627G= (p.Cys1876=) n.4301G= c.626G= (p.Cys209=) c.*1390G= (n.*1390G=) c.934G= | |
| 15 | g.48448812C>G | CA392341871 | FBN1 | c.5627G>C (p.Cys1876Ser) n.4301G>C c.626G>C (p.Cys209Ser) c.*1390G>C (n.*1390G>C) c.934G>C | ClinVar dbSNP |
| 15 | g.48448812C>T | CA16614640 | FBN1 | c.5627G>A (p.Cys1876Tyr) n.4301G>A c.626G>A (p.Cys209Tyr) c.*1390G>A (n.*1390G>A) c.934G>A | ClinVar dbSNP |
| 15 | g.48448813A= | CA2175498330 | FBN1 | c.5626T= (p.Cys1876=) n.4300T= c.625T= (p.Cys209=) c.*1389T= (n.*1389T=) c.933T= | |
| 15 | g.48448813A>C | CA392341875 | FBN1 | c.5626T>G (p.Cys1876Gly) n.4300T>G c.625T>G (p.Cys209Gly) c.*1389T>G (n.*1389T>G) c.933T>G | |
| 15 | g.48448813A>G | CA392341877 | FBN1 | c.5626T>C (p.Cys1876Arg) n.4300T>C c.625T>C (p.Cys209Arg) c.*1389T>C (n.*1389T>C) c.933T>C | ClinVar dbSNP |
| 15 | g.48448813A>T | CA392341879 | FBN1 | c.5626T>A (p.Cys1876Ser) n.4300T>A c.625T>A (p.Cys209Ser) c.*1389T>A (n.*1389T>A) c.933T>A | |
| 15 | g.48448814A>C | CA490023170 | FBN1 | c.5625T>G (p.Leu1875=) n.4299T>G c.624T>G (p.Leu208=) c.*1388T>G (n.*1388T>G) c.932T>G | |
| 15 | g.48448814A>G | CA490023172 | FBN1 | c.5625T>C (p.Leu1875=) n.4299T>C c.624T>C (p.Leu208=) c.*1388T>C (n.*1388T>C) c.932T>C | |
| 15 | g.48448814A>T | CA490023174 | FBN1 | c.5625T>A (p.Leu1875=) n.4299T>A c.624T>A (p.Leu208=) c.*1388T>A (n.*1388T>A) c.932T>A | |
| 15 | g.48448815A>C | CA392341882 | FBN1 | c.5624T>G (p.Leu1875Arg) n.4298T>G c.623T>G (p.Leu208Arg) c.*1387T>G (n.*1387T>G) c.931T>G | |
| 15 | g.48448815A>G | CA392341884 | FBN1 | c.5624T>C (p.Leu1875Pro) n.4298T>C c.623T>C (p.Leu208Pro) c.*1387T>C (n.*1387T>C) c.931T>C | |
| 15 | g.48448815A>T | CA392341886 | FBN1 | c.5624T>A (p.Leu1875His) n.4298T>A c.623T>A (p.Leu208His) c.*1387T>A (n.*1387T>A) c.931T>A | dbSNP |
| 15 | g.48448816G>A | CA269535012 | FBN1 | c.5623C>T (p.Leu1875Phe) n.4297C>T c.622C>T (p.Leu208Phe) c.*1386C>T (n.*1386C>T) c.930C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48448816G>C | CA392341892 | FBN1 | c.5623C>G (p.Leu1875Val) n.4297C>G c.622C>G (p.Leu208Val) c.*1386C>G (n.*1386C>G) c.930C>G | |
| 15 | g.48448816G= | CA2175498334 | FBN1 | c.5623C= (p.Leu1875=) n.4297C= c.622C= (p.Leu208=) c.*1386C= (n.*1386C=) c.930C= | |
| 15 | g.48448816G>T | CA392341890 | FBN1 | c.5623C>A (p.Leu1875Ile) n.4297C>A c.622C>A (p.Leu208Ile) c.*1386C>A (n.*1386C>A) c.930C>A | |
| 15 | g.48448817G>A | CA490023181 | FBN1 | c.5622C>T (p.Cys1874=) n.4296C>T c.621C>T (p.Cys207=) c.*1385C>T (n.*1385C>T) c.929C>T | |
| 15 | g.48448817G>C | CA392341894 | FBN1 | c.5622C>G (p.Cys1874Trp) n.4296C>G c.621C>G (p.Cys207Trp) c.*1385C>G (n.*1385C>G) c.929C>G | |
| 15 | g.48448817G>T | CA392341896 | FBN1 | c.5622C>A (p.Cys1874Ter) n.4296C>A c.621C>A (p.Cys207Ter) c.*1385C>A (n.*1385C>A) c.929C>A | |
| 15 | g.48448818C>A | CA392341898 | FBN1 | c.5621G>T (p.Cys1874Phe) n.4295G>T c.620G>T (p.Cys207Phe) c.*1384G>T (n.*1384G>T) c.928G>T | ClinVar dbSNP |
| 15 | g.48448818C>G | CA392341899 | FBN1 | c.5621G>C (p.Cys1874Ser) n.4295G>C c.620G>C (p.Cys207Ser) c.*1384G>C (n.*1384G>C) c.928G>C | |
| 15 | g.48448818C>T | CA392341900 | FBN1 | c.5621G>A (p.Cys1874Tyr) n.4295G>A c.620G>A (p.Cys207Tyr) c.*1384G>A (n.*1384G>A) c.928G>A | |
| 15 | g.48448819A>C | CA392341901 | FBN1 | c.5620T>G (p.Cys1874Gly) n.4294T>G c.619T>G (p.Cys207Gly) c.*1383T>G (n.*1383T>G) c.927T>G | |
| 15 | g.48448819A>G | CA392341903 | FBN1 | c.5620T>C (p.Cys1874Arg) n.4294T>C c.619T>C (p.Cys207Arg) c.*1383T>C (n.*1383T>C) c.927T>C | ClinVar |
| 15 | g.48448819A>T | CA392341905 | FBN1 | c.5620T>A (p.Cys1874Ser) n.4294T>A c.619T>A (p.Cys207Ser) c.*1383T>A (n.*1383T>A) c.927T>A | |
| 15 | g.48448820A= | CA2175498338 | FBN1 | c.5619T= (p.Tyr1873=) n.4293T= c.618T= (p.Tyr206=) c.*1382T= (n.*1382T=) c.926T= | |
| 15 | g.48448820A>C | CA10587815 | FBN1 | c.5619T>G (p.Tyr1873Ter) n.4293T>G c.618T>G (p.Tyr206Ter) c.*1382T>G (n.*1382T>G) c.926T>G | ClinVar dbSNP |
| 15 | g.48448820A>G | CA490023189 | FBN1 | c.5619T>C (p.Tyr1873=) n.4293T>C c.618T>C (p.Tyr206=) c.*1382T>C (n.*1382T>C) c.926T>C | ClinVar |
| 15 | g.48448820A>T | CA392341909 | FBN1 | c.5619T>A (p.Tyr1873Ter) n.4293T>A c.618T>A (p.Tyr206Ter) c.*1382T>A (n.*1382T>A) c.926T>A | |
| 15 | g.48448821T>A | CA392341923 | FBN1 | c.5618A>T (p.Tyr1873Phe) n.4292A>T c.617A>T (p.Tyr206Phe) c.*1381A>T (n.*1381A>T) c.925A>T | |
| 15 | g.48448821T>C | CA392341930 | FBN1 | c.5618A>G (p.Tyr1873Cys) n.4292A>G c.617A>G (p.Tyr206Cys) c.*1381A>G (n.*1381A>G) c.925A>G | |
| 15 | g.48448821T>G | CA392341926 | FBN1 | c.5618A>C (p.Tyr1873Ser) n.4292A>C c.617A>C (p.Tyr206Ser) c.*1381A>C (n.*1381A>C) c.925A>C | |
| 15 | g.48448822A>C | CA392341935 | FBN1 | c.5617T>G (p.Tyr1873Asp) n.4291T>G c.616T>G (p.Tyr206Asp) c.*1380T>G (n.*1380T>G) c.924T>G | |
| 15 | g.48448822A>G | CA392341937 | FBN1 | c.5617T>C (p.Tyr1873His) n.4291T>C c.616T>C (p.Tyr206His) c.*1380T>C (n.*1380T>C) c.924T>C | COSMIC |
| 15 | g.48448822A>T | CA392341940 | FBN1 | c.5617T>A (p.Tyr1873Asn) n.4291T>A c.616T>A (p.Tyr206Asn) c.*1380T>A (n.*1380T>A) c.924T>A | |
| 15 | g.48448823A= | CA2175498343 | FBN1 | c.5616T= (p.Phe1872=) n.4290T= c.615T= (p.Phe205=) c.*1379T= (n.*1379T=) c.923T= | |
| 15 | g.48448823A>C | CA392341944 | FBN1 | c.5616T>G (p.Phe1872Leu) n.4290T>G c.615T>G (p.Phe205Leu) c.*1379T>G (n.*1379T>G) c.923T>G | |
| 15 | g.48448823A>G | CA490023200 | FBN1 | c.5616T>C (p.Phe1872=) n.4290T>C c.615T>C (p.Phe205=) c.*1379T>C (n.*1379T>C) c.923T>C | ClinVar dbSNP |
| 15 | g.48448823A>T | CA392341946 | FBN1 | c.5616T>A (p.Phe1872Leu) n.4290T>A c.615T>A (p.Phe205Leu) c.*1379T>A (n.*1379T>A) c.923T>A | |
| 15 | g.48448824A>C | CA392341950 | FBN1 | c.5615T>G (p.Phe1872Cys) n.4289T>G c.614T>G (p.Phe205Cys) c.*1378T>G (n.*1378T>G) c.922T>G | |
| 15 | g.48448824A>G | CA392341953 | FBN1 | c.5615T>C (p.Phe1872Ser) n.4289T>C c.614T>C (p.Phe205Ser) c.*1378T>C (n.*1378T>C) c.922T>C | ClinVar |
| 15 | g.48448824A>T | CA392341959 | FBN1 | c.5615T>A (p.Phe1872Tyr) n.4289T>A c.614T>A (p.Phe205Tyr) c.*1378T>A (n.*1378T>A) c.922T>A |