| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48487005_48487064del | CA2804071392 | FBN1 | c.3589+29_3589+88del (n.3589+29_3589+88del) n.2263+29_2263+88del c.637-12396_637-12337del (n.637-12396_637-12337del) | |
| 15 | g.48487060_48487064dup | CA281797 | FBN1 | c.3589+36_3589+40dup (n.3589+36_3589+40dup) n.2263+36_2263+40dup c.637-12389_637-12385dup (n.637-12389_637-12385dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487055_48487064dup | CA281796 | FBN1 | c.3589+31_3589+40dup (n.3589+31_3589+40dup) n.2263+31_2263+40dup c.637-12394_637-12385dup (n.637-12394_637-12385dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487060_48487064del | CA014282 | FBN1 | c.3589+36_3589+40del (n.3589+36_3589+40del) n.2263+36_2263+40del c.637-12389_637-12385del (n.637-12389_637-12385del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487055_48487064del | CA7547922 | FBN1 | c.3589+31_3589+40del (n.3589+31_3589+40del) n.2263+31_2263+40del c.637-12394_637-12385del (n.637-12394_637-12385del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487050_48487064del | CA7547923 | FBN1 | c.3589+26_3589+40del (n.3589+26_3589+40del) n.2263+26_2263+40del c.637-12399_637-12385del (n.637-12399_637-12385del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487060_48487065del | CA2575717427 | FBN1 | c.3589+14_3589+19del (n.3589+14_3589+19del) n.2263+14_2263+19del c.637-12411_637-12406del (n.637-12411_637-12406del) | |
| 15 | g.48487060_48487063dup | CA919548682 | FBN1 | c.3589+15_3589+18dup (n.3589+15_3589+18dup) n.2263+15_2263+18dup c.637-12410_637-12407dup (n.637-12410_637-12407dup) | dbSNP |
| 15 | g.48487060T>A | CA656135883 | FBN1 | c.3589+15A>T (n.3589+15A>T) n.2263+15A>T c.637-12410A>T (n.637-12410A>T) | dbSNP COSMIC |
| 15 | g.48487060T>C | CA617835932 | FBN1 | c.3589+15A>G (n.3589+15A>G) n.2263+15A>G c.637-12410A>G (n.637-12410A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48487060T= | CA2175513950 | FBN1 | c.3589+15A= (n.3589+15A=) n.2263+15A= c.637-12410A= (n.637-12410A=) | |
| 15 | g.48487060_48487061delinsTA | CA2175513952 | FBN1 | c.3589+14_3589+15delinsTA (n.3589+14_3589+15delinsTA) n.2263+14_2263+15delinsTA c.637-12411_637-12410delinsTA (n.637-12411_637-12410delinsTA) | |
| 15 | g.48487061A>G | CA2628329947 | FBN1 | c.3589+14T>C (n.3589+14T>C) n.2263+14T>C c.637-12411T>C (n.637-12411T>C) | gnomAD v4 |
| 15 | g.48487066dup | CA2628329944 | FBN1 | c.3589+14dup (n.3589+14dup) n.2263+14dup c.637-12411dup (n.637-12411dup) | gnomAD v4 |
| 15 | g.48487066del | CA919548684 | FBN1 | c.3589+14del (n.3589+14del) n.2263+14del c.637-12411del (n.637-12411del) | dbSNP gnomAD v4 |
| 15 | g.48487064_48487066del | CA2804071433 | FBN1 | c.3589+12_3589+14del (n.3589+12_3589+14del) n.2263+12_2263+14del c.637-12413_637-12411del (n.637-12413_637-12411del) | |
| 15 | g.48487062_48487063insCAT | CA2532110483 | FBN1 | c.3589+12_3589+13insATG (n.3589+12_3589+13insATG) n.2263+12_2263+13insATG c.637-12413_637-12412insATG (n.637-12413_637-12412insATG) | |
| 15 | g.48487063_48487064insCC | CA2804071434 | FBN1 | c.3589+11_3589+12insGG (n.3589+11_3589+12insGG) n.2263+11_2263+12insGG c.637-12414_637-12413insGG (n.637-12414_637-12413insGG) | |
| 15 | g.48487064A>G | CA2628329952 | FBN1 | c.3589+11T>C (n.3589+11T>C) n.2263+11T>C c.637-12414T>C (n.637-12414T>C) | gnomAD v4 |
| 15 | g.48487065A>T | CA2628329954 | FBN1 | c.3589+10T>A (n.3589+10T>A) n.2263+10T>A c.637-12415T>A (n.637-12415T>A) | gnomAD v4 |
| 15 | g.48487066A= | CA2175513954 | FBN1 | c.3589+9T= (n.3589+9T=) n.2263+9T= c.637-12416T= (n.637-12416T=) | |
| 15 | g.48487066A>G | CA617835933 | FBN1 | c.3589+9T>C (n.3589+9T>C) n.2263+9T>C c.637-12416T>C (n.637-12416T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48487067G>A | CA2628329964 | FBN1 | c.3589+8C>T (n.3589+8C>T) n.2263+8C>T c.637-12417C>T (n.637-12417C>T) | gnomAD v4 |
| 15 | g.48487067G>C | CA617835934 | FBN1 | c.3589+8C>G (n.3589+8C>G) n.2263+8C>G c.637-12417C>G (n.637-12417C>G) | dbSNP gnomAD v2 |
| 15 | g.48487067G= | CA2175513955 | FBN1 | c.3589+8C= (n.3589+8C=) n.2263+8C= c.637-12417C= (n.637-12417C=) | |
| 15 | g.48487068A>G | CA2628329966 | FBN1 | c.3589+7T>C (n.3589+7T>C) n.2263+7T>C c.637-12418T>C (n.637-12418T>C) | gnomAD v4 |
| 15 | g.48487068_48487069insC | CA2804071435 | FBN1 | c.3589+6_3589+7insG (n.3589+6_3589+7insG) n.2263+6_2263+7insG c.637-12419_637-12418insG (n.637-12419_637-12418insG) | |
| 15 | g.48487069A= | CA2175513958 | FBN1 | c.3589+6T= (n.3589+6T=) n.2263+6T= c.637-12419T= (n.637-12419T=) | |
| 15 | g.48487069A>G | CA051186 | FBN1 | c.3589+6T>C (n.3589+6T>C) n.2263+6T>C c.637-12419T>C (n.637-12419T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48487070C>A | CA2628329976 | FBN1 | c.3589+5G>T (n.3589+5G>T) n.2263+5G>T c.637-12420G>T (n.637-12420G>T) | gnomAD v4 |
| 15 | g.48487070C>T | CA2628329977 | FBN1 | c.3589+5G>A (n.3589+5G>A) n.2263+5G>A c.637-12420G>A (n.637-12420G>A) | gnomAD v4 |
| 15 | g.48487070_48487071del | CA2628329975 | FBN1 | c.3589+4_3589+5del (n.3589+4_3589+5del) n.2263+4_2263+5del c.637-12421_637-12420del (n.637-12421_637-12420del) | gnomAD v4 |
| 15 | g.48487071T>C | CA2628329980 | FBN1 | c.3589+4A>G (n.3589+4A>G) n.2263+4A>G c.637-12421A>G (n.637-12421A>G) | gnomAD v4 |
| 15 | g.48487072del | CA2628329979 | FBN1 | c.3589+4del (n.3589+4del) n.2263+4del c.637-12421del (n.637-12421del) | gnomAD v4 |
| 15 | g.48487071_48487073del | CA2804071436 | FBN1 | c.3589+2_3589+4del (n.3589+2_3589+4del) n.2263+2_2263+4del c.637-12423_637-12421del (n.637-12423_637-12421del) | |
| 15 | g.48487072T>C | CA1139663896 | FBN1 | c.3589+3A>G (n.3589+3A>G) n.2263+3A>G c.637-12422A>G (n.637-12422A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48487072T= | CA2175513960 | FBN1 | c.3589+3A= (n.3589+3A=) n.2263+3A= c.637-12422A= (n.637-12422A=) | |
| 15 | g.48487073A>C | CA392324863 | FBN1 | c.3589+2T>G (n.3589+2T>G) n.2263+2T>G c.637-12423T>G (n.637-12423T>G) | |
| 15 | g.48487073A>G | CA392324864 | FBN1 | c.3589+2T>C (n.3589+2T>C) n.2263+2T>C c.637-12423T>C (n.637-12423T>C) | gnomAD v4 |
| 15 | g.48487073A>T | CA392324865 | FBN1 | c.3589+2T>A (n.3589+2T>A) n.2263+2T>A c.637-12423T>A (n.637-12423T>A) | |
| 15 | g.48487073_48487074delinsAC | CA2175513961 | FBN1 | c.3589+1_3589+2delinsGT (n.3589+1_3589+2delinsGT) n.2263+1_2263+2delinsGT c.637-12424_637-12423delinsGT (n.637-12424_637-12423delinsGT) | |
| 15 | g.48487074C>A | CA392324866 | FBN1 | c.3589+1G>T (n.3589+1G>T) n.2263+1G>T c.637-12424G>T (n.637-12424G>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48487074C= | CA2175513962 | FBN1 | c.3589+1G= (n.3589+1G=) n.2263+1G= c.637-12424G= (n.637-12424G=) | |
| 15 | g.48487074C>G | CA392324867 | FBN1 | c.3589+1G>C (n.3589+1G>C) n.2263+1G>C c.637-12424G>C (n.637-12424G>C) | |
| 15 | g.48487074C>T | CA392324868 | FBN1 | c.3589+1G>A (n.3589+1G>A) n.2263+1G>A c.637-12424G>A (n.637-12424G>A) | ClinVar dbSNP COSMIC |
| 15 | g.48487075del | CA2175513963 | FBN1 | c.3589+1del n.2263+1del c.637-12424del (n.637-12424del) | ClinVar dbSNP |
| 15 | g.48487075C>A | CA392324869 | FBN1 | c.3589G>T (p.Asp1197Tyr) n.2263G>T c.637-12425G>T (n.637-12425G>T) | gnomAD v4 |
| 15 | g.48487075C= | CA2175513964 | FBN1 | c.3589G= (p.Asp1197=) n.2263G= c.637-12425G= (n.637-12425G=) | |
| 15 | g.48487075C>G | CA014329 | FBN1 | c.3589G>C (p.Asp1197His) n.2263G>C c.637-12425G>C (n.637-12425G>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48487075C>T | CA014319 | FBN1 | c.3589G>A (p.Asp1197Asn) n.2263G>A c.637-12425G>A (n.637-12425G>A) | ClinVar dbSNP COSMIC |
| 15 | g.48487076A= | CA2175513965 | FBN1 | c.3588T= (p.Val1196=) n.2262T= c.637-12426T= (n.637-12426T=) | |
| 15 | g.48487076A>C | CA490017825 | FBN1 | c.3588T>G (p.Val1196=) n.2262T>G c.637-12426T>G (n.637-12426T>G) | |
| 15 | g.48487076A>G | CA490017826 | FBN1 | c.3588T>C (p.Val1196=) n.2262T>C c.637-12426T>C (n.637-12426T>C) | |
| 15 | g.48487076A>T | CA490017827 | FBN1 | c.3588T>A (p.Val1196=) n.2262T>A c.637-12426T>A (n.637-12426T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48487077A>C | CA392324870 | FBN1 | c.3587T>G (p.Val1196Gly) n.2261T>G c.637-12427T>G (n.637-12427T>G) | |
| 15 | g.48487077A>G | CA392324871 | FBN1 | c.3587T>C (p.Val1196Ala) n.2261T>C c.637-12427T>C (n.637-12427T>C) | gnomAD v4 |
| 15 | g.48487077A>T | CA392324872 | FBN1 | c.3587T>A (p.Val1196Asp) n.2261T>A c.637-12427T>A (n.637-12427T>A) | |
| 15 | g.48487078C>A | CA392324875 | FBN1 | c.3586G>T (p.Val1196Phe) n.2260G>T c.637-12428G>T (n.637-12428G>T) | gnomAD v4 |
| 15 | g.48487078C= | CA2175513966 | FBN1 | c.3586G= (p.Val1196=) n.2260G= c.637-12428G= (n.637-12428G=) | |
| 15 | g.48487078C>G | CA392324874 | FBN1 | c.3586G>C (p.Val1196Leu) n.2260G>C c.637-12428G>C (n.637-12428G>C) | |
| 15 | g.48487078C>T | CA392324873 | FBN1 | c.3586G>A (p.Val1196Ile) n.2260G>A c.637-12428G>A (n.637-12428G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48487079A>C | CA392324876 | FBN1 | c.3585T>G (p.Cys1195Trp) n.2259T>G c.637-12429T>G (n.637-12429T>G) | |
| 15 | g.48487079A>G | CA490017834 | FBN1 | c.3585T>C (p.Cys1195=) n.2259T>C c.637-12429T>C (n.637-12429T>C) | |
| 15 | g.48487079A>T | CA392324877 | FBN1 | c.3585T>A (p.Cys1195Ter) n.2259T>A c.637-12429T>A (n.637-12429T>A) | |
| 15 | g.48487080C>A | CA392324878 | FBN1 | c.3584G>T (p.Cys1195Phe) n.2258G>T c.637-12430G>T (n.637-12430G>T) | gnomAD v4 |
| 15 | g.48487080C= | CA2175513967 | FBN1 | c.3584G= (p.Cys1195=) n.2258G= c.637-12430G= (n.637-12430G=) | |
| 15 | g.48487080C>G | CA392324879 | FBN1 | c.3584G>C (p.Cys1195Ser) n.2258G>C c.637-12430G>C (n.637-12430G>C) | |
| 15 | g.48487080C>T | CA10587834 | FBN1 | c.3584G>A (p.Cys1195Tyr) n.2258G>A c.637-12430G>A (n.637-12430G>A) | ClinVar dbSNP |
| 15 | g.48487081A>C | CA392324880 | FBN1 | c.3583T>G (p.Cys1195Gly) n.2257T>G c.637-12431T>G (n.637-12431T>G) | ClinVar dbSNP |
| 15 | g.48487081A>G | CA392324881 | FBN1 | c.3583T>C (p.Cys1195Arg) n.2257T>C c.637-12431T>C (n.637-12431T>C) | |
| 15 | g.48487081A>T | CA392324882 | FBN1 | c.3583T>A (p.Cys1195Ser) n.2257T>A c.637-12431T>A (n.637-12431T>A) | |
| 15 | g.48487084dup | CA2695197282 | FBN1 | c.3583dup (p.Cys1195LeufsTer3) n.2257dup c.637-12431dup (n.637-12431dup) | ClinVar |
| 15 | g.48487084del | CA2499222996 | FBN1 | c.3583del (p.Cys1195ValfsTer9) n.2257del c.637-12431del (n.637-12431del) | ClinVar dbSNP |
| 15 | g.48487082A>C | CA392324883 | FBN1 | c.3582T>G (p.Phe1194Leu) n.2256T>G c.637-12432T>G (n.637-12432T>G) | |
| 15 | g.48487082A>G | CA490017842 | FBN1 | c.3582T>C (p.Phe1194=) n.2256T>C c.637-12432T>C (n.637-12432T>C) | ClinVar dbSNP |
| 15 | g.48487082A>T | CA392324884 | FBN1 | c.3582T>A (p.Phe1194Leu) n.2256T>A c.637-12432T>A (n.637-12432T>A) | |
| 15 | g.48487083A>C | CA392324885 | FBN1 | c.3581T>G (p.Phe1194Cys) n.2255T>G c.637-12433T>G (n.637-12433T>G) | |
| 15 | g.48487083A>G | CA392324886 | FBN1 | c.3581T>C (p.Phe1194Ser) n.2255T>C c.637-12433T>C (n.637-12433T>C) | |
| 15 | g.48487083A>T | CA392324887 | FBN1 | c.3581T>A (p.Phe1194Tyr) n.2255T>A c.637-12433T>A (n.637-12433T>A) | |
| 15 | g.48487084A>C | CA392324888 | FBN1 | c.3580T>G (p.Phe1194Val) n.2254T>G c.637-12434T>G (n.637-12434T>G) | |
| 15 | g.48487084A>G | CA392324889 | FBN1 | c.3580T>C (p.Phe1194Leu) n.2254T>C c.637-12434T>C (n.637-12434T>C) | |
| 15 | g.48487084A>T | CA392324890 | FBN1 | c.3580T>A (p.Phe1194Ile) n.2254T>A c.637-12434T>A (n.637-12434T>A) | |
| 15 | g.48487085T>A | CA269528397 | FBN1 | c.3579A>T (p.Leu1193=) n.2253A>T c.637-12435A>T (n.637-12435A>T) | dbSNP gnomAD v4 |
| 15 | g.48487085T>C | CA269528399 | FBN1 | c.3579A>G (p.Leu1193=) n.2253A>G c.637-12435A>G (n.637-12435A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487085T>G | CA490017848 | FBN1 | c.3579A>C (p.Leu1193=) n.2253A>C c.637-12435A>C (n.637-12435A>C) | dbSNP |
| 15 | g.48487085T= | CA2175513968 | FBN1 | c.3579A= (p.Leu1193=) n.2253A= c.637-12435A= (n.637-12435A=) | |
| 15 | g.48487086A>C | CA392324893 | FBN1 | c.3578T>G (p.Leu1193Arg) n.2252T>G c.637-12436T>G (n.637-12436T>G) | |
| 15 | g.48487086A>G | CA392324892 | FBN1 | c.3578T>C (p.Leu1193Pro) n.2252T>C c.637-12436T>C (n.637-12436T>C) | ClinVar dbSNP |
| 15 | g.48487086A>T | CA392324891 | FBN1 | c.3578T>A (p.Leu1193Gln) n.2252T>A c.637-12436T>A (n.637-12436T>A) | |
| 15 | g.48487088_48487098del | CA2695220291 | FBN1 | c.3568_3578del (p.Pro1190IlefsTer4) n.2242_2252del c.637-12446_637-12436del (n.637-12446_637-12436del) | |
| 15 | g.48487087G>A | CA490017849 | FBN1 | c.3577C>T (p.Leu1193=) n.2251C>T c.637-12437C>T (n.637-12437C>T) | |
| 15 | g.48487087G>C | CA392324894 | FBN1 | c.3577C>G (p.Leu1193Val) n.2251C>G c.637-12437C>G (n.637-12437C>G) | |
| 15 | g.48487087G>T | CA392324895 | FBN1 | c.3577C>A (p.Leu1193Ile) n.2251C>A c.637-12437C>A (n.637-12437C>A) | |
| 15 | g.48487088C>A | CA392324898 | FBN1 | c.3576G>T (p.Arg1192Ser) n.2250G>T c.637-12438G>T (n.637-12438G>T) | gnomAD v4 |
| 15 | g.48487088C= | CA2175513969 | FBN1 | c.3576G= (p.Arg1192=) n.2250G= c.637-12438G= (n.637-12438G=) | |
| 15 | g.48487088C>G | CA392324899 | FBN1 | c.3576G>C (p.Arg1192Ser) n.2250G>C c.637-12438G>C (n.637-12438G>C) | |
| 15 | g.48487088C>T | CA490017851 | FBN1 | c.3576G>A (p.Arg1192=) n.2250G>A c.637-12438G>A (n.637-12438G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48487089del | CA2695220292 | FBN1 | c.3576del (p.Arg1192SerfsTer12) n.2250del c.637-12438del (n.637-12438del) | |
| 15 | g.48487089C>A | CA392324900 | FBN1 | c.3575G>T (p.Arg1192Met) n.2249G>T c.637-12439G>T (n.637-12439G>T) | |
| 15 | g.48487089C= | CA2175513970 | FBN1 | c.3575G= (p.Arg1192=) n.2249G= c.637-12439G= (n.637-12439G=) | |
| 15 | g.48487089C>G | CA392324901 | FBN1 | c.3575G>C (p.Arg1192Thr) n.2249G>C c.637-12439G>C (n.637-12439G>C) | |
| 15 | g.48487089C>T | CA051106 | FBN1 | c.3575G>A (p.Arg1192Lys) n.2249G>A c.637-12439G>A (n.637-12439G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487090T>A | CA392324902 | FBN1 | c.3574A>T (p.Arg1192Trp) n.2248A>T c.637-12440A>T (n.637-12440A>T) | |
| 15 | g.48487090T>C | CA392324903 | FBN1 | c.3574A>G (p.Arg1192Gly) n.2248A>G c.637-12440A>G (n.637-12440A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48487090T>G | CA490017856 | FBN1 | c.3574A>C (p.Arg1192=) n.2248A>C c.637-12440A>C (n.637-12440A>C) | |
| 15 | g.48487090T= | CA2175513971 | FBN1 | c.3574A= (p.Arg1192=) n.2248A= c.637-12440A= (n.637-12440A=) | |
| 15 | g.48487091A= | CA2175513972 | FBN1 | c.3573T= (p.Asp1191=) n.2247T= c.637-12441T= (n.637-12441T=) | |
| 15 | g.48487091A>C | CA392324905 | FBN1 | c.3573T>G (p.Asp1191Glu) n.2247T>G c.637-12441T>G (n.637-12441T>G) | |
| 15 | g.48487091A>G | CA490017859 | FBN1 | c.3573T>C (p.Asp1191=) n.2247T>C c.637-12441T>C (n.637-12441T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48487091A>T | CA051100 | FBN1 | c.3573T>A (p.Asp1191Glu) n.2247T>A c.637-12441T>A (n.637-12441T>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48487092T>A | CA392324916 | FBN1 | c.3572A>T (p.Asp1191Val) n.2246A>T c.637-12442A>T (n.637-12442A>T) | |
| 15 | g.48487092T>C | CA392324910 | FBN1 | c.3572A>G (p.Asp1191Gly) n.2246A>G c.637-12442A>G (n.637-12442A>G) | ClinVar |
| 15 | g.48487092T>G | CA392324909 | FBN1 | c.3572A>C (p.Asp1191Ala) n.2246A>C c.637-12442A>C (n.637-12442A>C) | |
| 15 | g.48487093C>A | CA392324919 | FBN1 | c.3571G>T (p.Asp1191Tyr) n.2245G>T c.637-12443G>T (n.637-12443G>T) | |
| 15 | g.48487093C= | CA2175513973 | FBN1 | c.3571G= (p.Asp1191=) n.2245G= c.637-12443G= (n.637-12443G=) | |
| 15 | g.48487093C>G | CA392324920 | FBN1 | c.3571G>C (p.Asp1191His) n.2245G>C c.637-12443G>C (n.637-12443G>C) | |
| 15 | g.48487093C>T | CA051096 | FBN1 | c.3571G>A (p.Asp1191Asn) n.2245G>A c.637-12443G>A (n.637-12443G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48487094G>A | CA051087 | FBN1 | c.3570C>T (p.Pro1190=) n.2244C>T c.637-12444C>T (n.637-12444C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487094G>C | CA490017867 | FBN1 | c.3570C>G (p.Pro1190=) n.2244C>G c.637-12444C>G (n.637-12444C>G) | |
| 15 | g.48487094G= | CA2175513974 | FBN1 | c.3570C= (p.Pro1190=) n.2244C= c.637-12444C= (n.637-12444C=) | |
| 15 | g.48487094G>T | CA490017868 | FBN1 | c.3570C>A (p.Pro1190=) n.2244C>A c.637-12444C>A (n.637-12444C>A) | ClinVar dbSNP |
| 15 | g.48487094_48487095delinsGG | CA2175513975 | FBN1 | c.3569_3570delinsCC (p.Pro1190=) n.2243_2244delinsCC c.637-12445_637-12444delinsCC (n.637-12445_637-12444delinsCC) | |
| 15 | g.48487094_48487095delinsTT | CA913188650 | FBN1 | c.3569_3570delinsAA (p.Pro1190Gln) n.2243_2244delinsAA c.637-12445_637-12444delinsAA (n.637-12445_637-12444delinsAA) | ClinVar dbSNP |
| 15 | g.48487095G>A | CA392324929 | FBN1 | c.3569C>T (p.Pro1190Leu) n.2243C>T c.637-12445C>T (n.637-12445C>T) | |
| 15 | g.48487095G>C | CA392324930 | FBN1 | c.3569C>G (p.Pro1190Arg) n.2243C>G c.637-12445C>G (n.637-12445C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48487095G= | CA2175513976 | FBN1 | c.3569C= (p.Pro1190=) n.2243C= c.637-12445C= (n.637-12445C=) | |
| 15 | g.48487095G>T | CA392324932 | FBN1 | c.3569C>A (p.Pro1190His) n.2243C>A c.637-12445C>A (n.637-12445C>A) | ClinVar dbSNP |
| 15 | g.48487096G>A | CA392324934 | FBN1 | c.3568C>T (p.Pro1190Ser) n.2242C>T c.637-12446C>T (n.637-12446C>T) | |
| 15 | g.48487096G>C | CA392324936 | FBN1 | c.3568C>G (p.Pro1190Ala) n.2242C>G c.637-12446C>G (n.637-12446C>G) | gnomAD v4 |
| 15 | g.48487096G>T | CA392324938 | FBN1 | c.3568C>A (p.Pro1190Thr) n.2242C>A c.637-12446C>A (n.637-12446C>A) | ClinVar |
| 15 | g.48487097A>C | CA490017873 | FBN1 | c.3567T>G (p.Thr1189=) n.2241T>G c.637-12447T>G (n.637-12447T>G) | |
| 15 | g.48487097A>G | CA490017875 | FBN1 | c.3567T>C (p.Thr1189=) n.2241T>C c.637-12447T>C (n.637-12447T>C) | gnomAD v4 |
| 15 | g.48487097A>T | CA490017876 | FBN1 | c.3567T>A (p.Thr1189=) n.2241T>A c.637-12447T>A (n.637-12447T>A) | |
| 15 | g.48487098G>A | CA392324940 | FBN1 | c.3566C>T (p.Thr1189Ile) n.2240C>T c.637-12448C>T (n.637-12448C>T) | |
| 15 | g.48487098G>C | CA392324941 | FBN1 | c.3566C>G (p.Thr1189Ser) n.2240C>G c.637-12448C>G (n.637-12448C>G) | |
| 15 | g.48487098G>T | CA392324943 | FBN1 | c.3566C>A (p.Thr1189Asn) n.2240C>A c.637-12448C>A (n.637-12448C>A) | |
| 15 | g.48487099T>A | CA392324945 | FBN1 | c.3565A>T (p.Thr1189Ser) n.2239A>T c.637-12449A>T (n.637-12449A>T) | gnomAD v3 gnomAD v4 |
| 15 | g.48487099T>C | CA051081 | FBN1 | c.3565A>G (p.Thr1189Ala) n.2239A>G c.637-12449A>G (n.637-12449A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487099T>G | CA392324947 | FBN1 | c.3565A>C (p.Thr1189Pro) n.2239A>C c.637-12449A>C (n.637-12449A>C) | |
| 15 | g.48487099T= | CA2175513977 | FBN1 | c.3565A= (p.Thr1189=) n.2239A= c.637-12449A= (n.637-12449A=) | |
| 15 | g.48487100T>A | CA490017880 | FBN1 | c.3564A>T (p.Ser1188=) n.2238A>T c.637-12450A>T (n.637-12450A>T) | |
| 15 | g.48487100T>C | CA490017881 | FBN1 | c.3564A>G (p.Ser1188=) n.2238A>G c.637-12450A>G (n.637-12450A>G) | |
| 15 | g.48487100T>G | CA490017882 | FBN1 | c.3564A>C (p.Ser1188=) n.2238A>C c.637-12450A>C (n.637-12450A>C) | |
| 15 | g.48487101G>A | CA392324950 | FBN1 | c.3563C>T (p.Ser1188Leu) n.2237C>T c.637-12451C>T (n.637-12451C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48487101G>C | CA392324952 | FBN1 | c.3563C>G (p.Ser1188Ter) n.2237C>G c.637-12451C>G (n.637-12451C>G) | |
| 15 | g.48487101G= | CA2175513978 | FBN1 | c.3563C= (p.Ser1188=) n.2237C= c.637-12451C= (n.637-12451C=) | |
| 15 | g.48487101G>T | CA16603324 | FBN1 | c.3563C>A (p.Ser1188Ter) n.2237C>A c.637-12451C>A (n.637-12451C>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48487102A= | CA2175513979 | FBN1 | c.3562T= (p.Ser1188=) n.2236T= c.637-12452T= (n.637-12452T=) | |
| 15 | g.48487102A>C | CA392324955 | FBN1 | c.3562T>G (p.Ser1188Ala) n.2236T>G c.637-12452T>G (n.637-12452T>G) | dbSNP |
| 15 | g.48487102A>G | CA392324957 | FBN1 | c.3562T>C (p.Ser1188Pro) n.2236T>C c.637-12452T>C (n.637-12452T>C) | |
| 15 | g.48487102A>T | CA392324959 | FBN1 | c.3562T>A (p.Ser1188Thr) n.2236T>A c.637-12452T>A (n.637-12452T>A) | |
| 15 | g.48487103A>C | CA392324961 | FBN1 | c.3561T>G (p.His1187Gln) n.2235T>G c.637-12453T>G (n.637-12453T>G) | |
| 15 | g.48487103A>G | CA490017889 | FBN1 | c.3561T>C (p.His1187=) n.2235T>C c.637-12453T>C (n.637-12453T>C) | |
| 15 | g.48487103A>T | CA392324963 | FBN1 | c.3561T>A (p.His1187Gln) n.2235T>A c.637-12453T>A (n.637-12453T>A) | |
| 15 | g.48487104T>A | CA392324965 | FBN1 | c.3560A>T (p.His1187Leu) n.2234A>T c.637-12454A>T (n.637-12454A>T) | |
| 15 | g.48487104T>C | CA014274 | FBN1 | c.3560A>G (p.His1187Arg) n.2234A>G c.637-12454A>G (n.637-12454A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487104T>G | CA392324967 | FBN1 | c.3560A>C (p.His1187Pro) n.2234A>C c.637-12454A>C (n.637-12454A>C) | |
| 15 | g.48487104T= | CA2175513980 | FBN1 | c.3560A= (p.His1187=) n.2234A= c.637-12454A= (n.637-12454A=) | |
| 15 | g.48487105G>A | CA392324971 | FBN1 | c.3559C>T (p.His1187Tyr) n.2233C>T c.637-12455C>T (n.637-12455C>T) | |
| 15 | g.48487105G>C | CA392324973 | FBN1 | c.3559C>G (p.His1187Asp) n.2233C>G c.637-12455C>G (n.637-12455C>G) | |
| 15 | g.48487105G>T | CA392324970 | FBN1 | c.3559C>A (p.His1187Asn) n.2233C>A c.637-12455C>A (n.637-12455C>A) | |
| 15 | g.48487106dup | CA658824439 | FBN1 | c.3559dup (p.His1187ProfsTer6) n.2233dup c.637-12455dup (n.637-12455dup) | ClinVar dbSNP |
| 15 | g.48487106del | CA2695220293 | FBN1 | c.3559del (p.His1187IlefsTer17) n.2233del c.637-12455del (n.637-12455del) | |
| 15 | g.48487106G>A | CA490017895 | FBN1 | c.3558C>T (p.Tyr1186=) n.2232C>T c.637-12456C>T (n.637-12456C>T) | |
| 15 | g.48487106G>C | CA392324974 | FBN1 | c.3558C>G (p.Tyr1186Ter) n.2232C>G c.637-12456C>G (n.637-12456C>G) | ClinVar dbSNP |
| 15 | g.48487106G= | CA2175513982 | FBN1 | c.3558C= (p.Tyr1186=) n.2232C= c.637-12456C= (n.637-12456C=) | |
| 15 | g.48487106G>T | CA392324976 | FBN1 | c.3558C>A (p.Tyr1186Ter) n.2232C>A c.637-12456C>A (n.637-12456C>A) | |
| 15 | g.48487106_48487107delinsGT | CA2175513981 | FBN1 | c.3557_3558delinsAC (p.Tyr1186=) n.2231_2232delinsAC c.637-12457_637-12456delinsAC (n.637-12457_637-12456delinsAC) | |
| 15 | g.48487107del | CA1139663897 | FBN1 | c.3557del (p.Tyr1186SerfsTer18) n.2231del c.637-12457del (n.637-12457del) | ClinVar dbSNP |
| 15 | g.48487107T>A | CA392324979 | FBN1 | c.3557A>T (p.Tyr1186Phe) n.2231A>T c.637-12457A>T (n.637-12457A>T) | |
| 15 | g.48487107T>C | CA392324980 | FBN1 | c.3557A>G (p.Tyr1186Cys) n.2231A>G c.637-12457A>G (n.637-12457A>G) | ClinVar dbSNP |
| 15 | g.48487107T>G | CA392324982 | FBN1 | c.3557A>C (p.Tyr1186Ser) n.2231A>C c.637-12457A>C (n.637-12457A>C) | |
| 15 | g.48487107T= | CA2175513984 | FBN1 | c.3557A= (p.Tyr1186=) n.2231A= c.637-12457A= (n.637-12457A=) | |
| 15 | g.48487108A>C | CA392324988 | FBN1 | c.3556T>G (p.Tyr1186Asp) n.2230T>G c.637-12458T>G (n.637-12458T>G) | |
| 15 | g.48487108A>G | CA392324986 | FBN1 | c.3556T>C (p.Tyr1186His) n.2230T>C c.637-12458T>C (n.637-12458T>C) | |
| 15 | g.48487108A>T | CA392324985 | FBN1 | c.3556T>A (p.Tyr1186Asn) n.2230T>A c.637-12458T>A (n.637-12458T>A) | |
| 15 | g.48487109del | CA2695220294 | FBN1 | c.3555del (p.Tyr1186ThrfsTer18) n.2229del c.637-12459del (n.637-12459del) | |
| 15 | g.48487109G>A | CA490017901 | FBN1 | c.3555C>T (p.Gly1185=) n.2229C>T c.637-12459C>T (n.637-12459C>T) | |
| 15 | g.48487109G>C | CA490017903 | FBN1 | c.3555C>G (p.Gly1185=) n.2229C>G c.637-12459C>G (n.637-12459C>G) | |
| 15 | g.48487109G= | CA2175513986 | FBN1 | c.3555C= (p.Gly1185=) n.2229C= c.637-12459C= (n.637-12459C=) | |
| 15 | g.48487109G>T | CA490017902 | FBN1 | c.3555C>A (p.Gly1185=) n.2229C>A c.637-12459C>A (n.637-12459C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48487110C>A | CA392324990 | FBN1 | c.3554G>T (p.Gly1185Val) n.2228G>T c.637-12460G>T (n.637-12460G>T) | |
| 15 | g.48487110C= | CA2175513989 | FBN1 | c.3554G= (p.Gly1185=) n.2228G= c.637-12460G= (n.637-12460G=) | |
| 15 | g.48487110C>G | CA392324991 | FBN1 | c.3554G>C (p.Gly1185Ala) n.2228G>C c.637-12460G>C (n.637-12460G>C) | |
| 15 | g.48487110C>T | CA392324992 | FBN1 | c.3554G>A (p.Gly1185Asp) n.2228G>A c.637-12460G>A (n.637-12460G>A) | ClinVar dbSNP |
| 15 | g.48487111del | CA2695197283 | FBN1 | c.3554del (p.Gly1185AlafsTer19) n.2228del c.637-12460del (n.637-12460del) | ClinVar |
| 15 | g.48487111C>A | CA392324995 | FBN1 | c.3553G>T (p.Gly1185Cys) n.2227G>T c.637-12461G>T (n.637-12461G>T) | |
| 15 | g.48487111C>G | CA392324997 | FBN1 | c.3553G>C (p.Gly1185Arg) n.2227G>C c.637-12461G>C (n.637-12461G>C) | |
| 15 | g.48487111C>T | CA392324998 | FBN1 | c.3553G>A (p.Gly1185Ser) n.2227G>A c.637-12461G>A (n.637-12461G>A) | |
| 15 | g.48487112A>C | CA490017907 | FBN1 | c.3552T>G (p.Pro1184=) n.2226T>G c.637-12462T>G (n.637-12462T>G) | |
| 15 | g.48487112A>G | CA490017908 | FBN1 | c.3552T>C (p.Pro1184=) n.2226T>C c.637-12462T>C (n.637-12462T>C) | |
| 15 | g.48487112A>T | CA490017910 | FBN1 | c.3552T>A (p.Pro1184=) n.2226T>A c.637-12462T>A (n.637-12462T>A) | |
| 15 | g.48487113G>A | CA392325004 | FBN1 | c.3551C>T (p.Pro1184Leu) n.2225C>T c.637-12463C>T (n.637-12463C>T) | |
| 15 | g.48487113G>C | CA392325001 | FBN1 | c.3551C>G (p.Pro1184Arg) n.2225C>G c.637-12463C>G (n.637-12463C>G) | |
| 15 | g.48487113G>T | CA392325002 | FBN1 | c.3551C>A (p.Pro1184His) n.2225C>A c.637-12463C>A (n.637-12463C>A) | |
| 15 | g.48487114G>A | CA392325005 | FBN1 | c.3550C>T (p.Pro1184Ser) n.2224C>T c.637-12464C>T (n.637-12464C>T) | |
| 15 | g.48487114G>C | CA392325007 | FBN1 | c.3550C>G (p.Pro1184Ala) n.2224C>G c.637-12464C>G (n.637-12464C>G) | |
| 15 | g.48487114G>T | CA392325008 | FBN1 | c.3550C>A (p.Pro1184Thr) n.2224C>A c.637-12464C>A (n.637-12464C>A) | |
| 15 | g.48487115G>A | CA490017914 | FBN1 | c.3549C>T (p.Asn1183=) n.2223C>T c.637-12465C>T (n.637-12465C>T) | |
| 15 | g.48487115G>C | CA392325010 | FBN1 | c.3549C>G (p.Asn1183Lys) n.2223C>G c.637-12465C>G (n.637-12465C>G) | |
| 15 | g.48487115G>T | CA392325011 | FBN1 | c.3549C>A (p.Asn1183Lys) n.2223C>A c.637-12465C>A (n.637-12465C>A) | |
| 15 | g.48487116T>A | CA392325013 | FBN1 | c.3548A>T (p.Asn1183Ile) n.2222A>T c.637-12466A>T (n.637-12466A>T) | gnomAD v4 |
| 15 | g.48487116T>C | CA392325016 | FBN1 | c.3548A>G (p.Asn1183Ser) n.2222A>G c.637-12466A>G (n.637-12466A>G) | |
| 15 | g.48487116T>G | CA392325018 | FBN1 | c.3548A>C (p.Asn1183Thr) n.2222A>C c.637-12466A>C (n.637-12466A>C) | |
| 15 | g.48487117del | CA2695220295 | FBN1 | c.3548del (p.Asn1183ThrfsTer21) n.2222del c.637-12466del (n.637-12466del) | |
| 15 | g.48487116_48487119dup | CA2573150824 | FBN1 | c.3545_3548dup (p.Asn1183LysfsTer11) n.2219_2222dup c.637-12469_637-12466dup (n.637-12469_637-12466dup) | ClinVar dbSNP |
| 15 | g.48487117T>A | CA392325021 | FBN1 | c.3547A>T (p.Asn1183Tyr) n.2221A>T c.637-12467A>T (n.637-12467A>T) | |
| 15 | g.48487117T>C | CA392325022 | FBN1 | c.3547A>G (p.Asn1183Asp) n.2221A>G c.637-12467A>G (n.637-12467A>G) | |
| 15 | g.48487117T>G | CA392325024 | FBN1 | c.3547A>C (p.Asn1183His) n.2221A>C c.637-12467A>C (n.637-12467A>C) | |
| 15 | g.48487118G>A | CA490017924 | FBN1 | c.3546C>T (p.Cys1182=) n.2220C>T c.637-12468C>T (n.637-12468C>T) | dbSNP |
| 15 | g.48487118G>C | CA392325026 | FBN1 | c.3546C>G (p.Cys1182Trp) n.2220C>G c.637-12468C>G (n.637-12468C>G) | |
| 15 | g.48487118G= | CA2175513992 | FBN1 | c.3546C= (p.Cys1182=) n.2220C= c.637-12468C= (n.637-12468C=) | |
| 15 | g.48487118G>T | CA014263 | FBN1 | c.3546C>A (p.Cys1182Ter) n.2220C>A c.637-12468C>A (n.637-12468C>A) | ClinVar dbSNP COSMIC |
| 15 | g.48487118_48487119delinsAAA | CA2695220296 | FBN1 | c.3545_3546delinsTTT (p.Cys1182PhefsTer2) n.2219_2220delinsTTT c.637-12469_637-12468delinsTTT (n.637-12469_637-12468delinsTTT) | |
| 15 | g.48487119C>A | CA392325030 | FBN1 | c.3545G>T (p.Cys1182Phe) n.2219G>T c.637-12469G>T (n.637-12469G>T) | |
| 15 | g.48487119C= | CA2175513995 | FBN1 | c.3545G= (p.Cys1182=) n.2219G= c.637-12469G= (n.637-12469G=) | |
| 15 | g.48487119C>G | CA392325033 | FBN1 | c.3545G>C (p.Cys1182Ser) n.2219G>C c.637-12469G>C (n.637-12469G>C) | ClinVar |
| 15 | g.48487119C>T | CA392325032 | FBN1 | c.3545G>A (p.Cys1182Tyr) n.2219G>A c.637-12469G>A (n.637-12469G>A) | ClinVar dbSNP |
| 15 | g.48487120A>C | CA392325036 | FBN1 | c.3544T>G (p.Cys1182Gly) n.2218T>G c.637-12470T>G (n.637-12470T>G) | |
| 15 | g.48487120A>G | CA392325038 | FBN1 | c.3544T>C (p.Cys1182Arg) n.2218T>C c.637-12470T>C (n.637-12470T>C) | |
| 15 | g.48487120A>T | CA392325039 | FBN1 | c.3544T>A (p.Cys1182Ser) n.2218T>A c.637-12470T>A (n.637-12470T>A) | |
| 15 | g.48487121G>A | CA490017928 | FBN1 | c.3543C>T (p.Ala1181=) n.2217C>T c.637-12471C>T (n.637-12471C>T) | |
| 15 | g.48487121G>C | CA490017930 | FBN1 | c.3543C>G (p.Ala1181=) n.2217C>G c.637-12471C>G (n.637-12471C>G) | |
| 15 | g.48487121G>T | CA490017931 | FBN1 | c.3543C>A (p.Ala1181=) n.2217C>A c.637-12471C>A (n.637-12471C>A) | |
| 15 | g.48487122G>A | CA051064 | FBN1 | c.3542C>T (p.Ala1181Val) n.2216C>T c.637-12472C>T (n.637-12472C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48487122G>C | CA392325042 | FBN1 | c.3542C>G (p.Ala1181Gly) n.2216C>G c.637-12472C>G (n.637-12472C>G) | |
| 15 | g.48487122G= | CA2175513997 | FBN1 | c.3542C= (p.Ala1181=) n.2216C= c.637-12472C= (n.637-12472C=) | |
| 15 | g.48487122G>T | CA392325043 | FBN1 | c.3542C>A (p.Ala1181Asp) n.2216C>A c.637-12472C>A (n.637-12472C>A) | |
| 15 | g.48487123C>A | CA392325049 | FBN1 | c.3541G>T (p.Ala1181Ser) n.2215G>T c.637-12473G>T (n.637-12473G>T) | gnomAD v4 |
| 15 | g.48487123C>G | CA392325046 | FBN1 | c.3541G>C (p.Ala1181Pro) n.2215G>C c.637-12473G>C (n.637-12473G>C) | |
| 15 | g.48487123C>T | CA392325047 | FBN1 | c.3541G>A (p.Ala1181Thr) n.2215G>A c.637-12473G>A (n.637-12473G>A) | |
| 15 | g.48487124A>C | CA392325052 | FBN1 | c.3540T>G (p.Cys1180Trp) n.2214T>G c.637-12474T>G (n.637-12474T>G) | |
| 15 | g.48487124A>G | CA490017936 | FBN1 | c.3540T>C (p.Cys1180=) n.2214T>C c.637-12474T>C (n.637-12474T>C) | |
| 15 | g.48487124A>T | CA392325053 | FBN1 | c.3540T>A (p.Cys1180Ter) n.2214T>A c.637-12474T>A (n.637-12474T>A) | |
| 15 | g.48487125C>A | CA392325055 | FBN1 | c.3539G>T (p.Cys1180Phe) n.2213G>T c.637-12475G>T (n.637-12475G>T) | |
| 15 | g.48487125C= | CA2175513999 | FBN1 | c.3539G= (p.Cys1180=) n.2213G= c.637-12475G= (n.637-12475G=) | |
| 15 | g.48487125C>G | CA392325057 | FBN1 | c.3539G>C (p.Cys1180Ser) n.2213G>C c.637-12475G>C (n.637-12475G>C) | |
| 15 | g.48487125C>T | CA392325058 | FBN1 | c.3539G>A (p.Cys1180Tyr) n.2213G>A c.637-12475G>A (n.637-12475G>A) | ClinVar dbSNP |
| 15 | g.48487125_48487146delinsCACTGATACTTCCCTATGAGGT | CA2175514001 | FBN1 | c.3518_3539delinsACCTCATAGGGAAGTATCAGTG (p.Asn1173=) n.2192_2213delinsACCTCATAGGGAAGTATCAGTG c.637-12496_637-12475delinsACCTCATAGGGAAGTATCAGTG (n.637-12496_637-12475delinsACCTCATAGGGAAGTATCAGTG) | |
| 15 | g.48487126A>C | CA392325061 | FBN1 | c.3538T>G (p.Cys1180Gly) n.2212T>G c.637-12476T>G (n.637-12476T>G) | |
| 15 | g.48487126A>G | CA392325064 | FBN1 | c.3538T>C (p.Cys1180Arg) n.2212T>C c.637-12476T>C (n.637-12476T>C) | ClinVar dbSNP |
| 15 | g.48487126A>T | CA392325063 | FBN1 | c.3538T>A (p.Cys1180Ser) n.2212T>A c.637-12476T>A (n.637-12476T>A) | |
| 15 | g.48487126_48487146del | CA658798371 | FBN1 | c.3518_3538del (p.Asn1173_Cys1180delinsSer) n.2192_2212del c.637-12496_637-12476del (n.637-12496_637-12476del) | ClinVar dbSNP |
| 15 | g.48487127C>A | CA392325066 | FBN1 | c.3537G>T (p.Gln1179His) n.2211G>T c.637-12477G>T (n.637-12477G>T) | |
| 15 | g.48487127C= | CA2175514006 | FBN1 | c.3537G= (p.Gln1179=) n.2211G= c.637-12477G= (n.637-12477G=) | |
| 15 | g.48487127C>G | CA392325068 | FBN1 | c.3537G>C (p.Gln1179His) n.2211G>C c.637-12477G>C (n.637-12477G>C) | |
| 15 | g.48487127C>T | CA490017940 | FBN1 | c.3537G>A (p.Gln1179=) n.2211G>A c.637-12477G>A (n.637-12477G>A) | ClinVar dbSNP |
| 15 | g.48487128del | CA2695220297 | FBN1 | c.3536del (p.Gln1179ArgfsTer25) n.2210del c.637-12478del (n.637-12478del) | |
| 15 | g.48487128T>A | CA392325070 | FBN1 | c.3536A>T (p.Gln1179Leu) n.2210A>T c.637-12478A>T (n.637-12478A>T) | |
| 15 | g.48487128T>C | CA392325072 | FBN1 | c.3536A>G (p.Gln1179Arg) n.2210A>G c.637-12478A>G (n.637-12478A>G) | |
| 15 | g.48487128T>G | CA392325073 | FBN1 | c.3536A>C (p.Gln1179Pro) n.2210A>C c.637-12478A>C (n.637-12478A>C) | |
| 15 | g.48487129G>A | CA392325075 | FBN1 | c.3535C>T (p.Gln1179Ter) n.2209C>T c.637-12479C>T (n.637-12479C>T) | ClinVar dbSNP |
| 15 | g.48487129G>C | CA392325077 | FBN1 | c.3535C>G (p.Gln1179Glu) n.2209C>G c.637-12479C>G (n.637-12479C>G) | |
| 15 | g.48487129G= | CA2175514008 | FBN1 | c.3535C= (p.Gln1179=) n.2209C= c.637-12479C= (n.637-12479C=) | |
| 15 | g.48487129G>T | CA392325078 | FBN1 | c.3535C>A (p.Gln1179Lys) n.2209C>A c.637-12479C>A (n.637-12479C>A) | dbSNP gnomAD v4 |
| 15 | g.48487130A>C | CA392325081 | FBN1 | c.3534T>G (p.Tyr1178Ter) n.2208T>G c.637-12480T>G (n.637-12480T>G) | |
| 15 | g.48487130A>G | CA490017946 | FBN1 | c.3534T>C (p.Tyr1178=) n.2208T>C c.637-12480T>C (n.637-12480T>C) | |
| 15 | g.48487130A>T | CA392325082 | FBN1 | c.3534T>A (p.Tyr1178Ter) n.2208T>A c.637-12480T>A (n.637-12480T>A) | ClinVar |
| 15 | g.48487130dup | CA2573150826 | FBN1 | c.3534dup (p.Gln1179SerfsTer14) n.2208dup c.637-12480dup (n.637-12480dup) | ClinVar dbSNP |
| 15 | g.48487131T>A | CA392325088 | FBN1 | c.3533A>T (p.Tyr1178Phe) n.2207A>T c.637-12481A>T (n.637-12481A>T) | |
| 15 | g.48487131T>C | CA392325087 | FBN1 | c.3533A>G (p.Tyr1178Cys) n.2207A>G c.637-12481A>G (n.637-12481A>G) | ClinVar dbSNP |
| 15 | g.48487131T>G | CA392325085 | FBN1 | c.3533A>C (p.Tyr1178Ser) n.2207A>C c.637-12481A>C (n.637-12481A>C) | |
| 15 | g.48487131T= | CA2175514013 | FBN1 | c.3533A= (p.Tyr1178=) n.2207A= c.637-12481A= (n.637-12481A=) | |
| 15 | g.48487132A>C | CA392325091 | FBN1 | c.3532T>G (p.Tyr1178Asp) n.2206T>G c.637-12482T>G (n.637-12482T>G) | |
| 15 | g.48487132A>G | CA392325095 | FBN1 | c.3532T>C (p.Tyr1178His) n.2206T>C c.637-12482T>C (n.637-12482T>C) | |
| 15 | g.48487132A>T | CA392325093 | FBN1 | c.3532T>A (p.Tyr1178Asn) n.2206T>A c.637-12482T>A (n.637-12482T>A) | |
| 15 | g.48487133C>A | CA392325097 | FBN1 | c.3531G>T (p.Lys1177Asn) n.2205G>T c.637-12483G>T (n.637-12483G>T) | |
| 15 | g.48487133C= | CA2175514015 | FBN1 | c.3531G= (p.Lys1177=) n.2205G= c.637-12483G= (n.637-12483G=) | |
| 15 | g.48487133C>G | CA392325099 | FBN1 | c.3531G>C (p.Lys1177Asn) n.2205G>C c.637-12483G>C (n.637-12483G>C) | dbSNP gnomAD v4 |
| 15 | g.48487133C>T | CA490017949 | FBN1 | c.3531G>A (p.Lys1177=) n.2205G>A c.637-12483G>A (n.637-12483G>A) | |
| 15 | g.48487134T>A | CA392325101 | FBN1 | c.3530A>T (p.Lys1177Met) n.2204A>T c.637-12484A>T (n.637-12484A>T) | |
| 15 | g.48487134T>C | CA392325103 | FBN1 | c.3530A>G (p.Lys1177Arg) n.2204A>G c.637-12484A>G (n.637-12484A>G) | |
| 15 | g.48487134T>G | CA392325102 | FBN1 | c.3530A>C (p.Lys1177Thr) n.2204A>C c.637-12484A>C (n.637-12484A>C) | |
| 15 | g.48487135T>A | CA392325106 | FBN1 | c.3529A>T (p.Lys1177Ter) n.2203A>T c.637-12485A>T (n.637-12485A>T) | ClinVar |
| 15 | g.48487135T>C | CA392325110 | FBN1 | c.3529A>G (p.Lys1177Glu) n.2203A>G c.637-12485A>G (n.637-12485A>G) | |
| 15 | g.48487135T>G | CA392325108 | FBN1 | c.3529A>C (p.Lys1177Gln) n.2203A>C c.637-12485A>C (n.637-12485A>C) | |
| 15 | g.48487135_48487136delinsTC | CA2175514020 | FBN1 | c.3528_3529delinsGA (p.Gly1176=) n.2202_2203delinsGA c.637-12486_637-12485delinsGA (n.637-12486_637-12485delinsGA) | |
| 15 | g.48487136C>A | CA490017955 | FBN1 | c.3528G>T (p.Gly1176=) n.2202G>T c.637-12486G>T (n.637-12486G>T) | |
| 15 | g.48487136C= | CA2175514026 | FBN1 | c.3528G= (p.Gly1176=) n.2202G= c.637-12486G= (n.637-12486G=) | |
| 15 | g.48487136C>G | CA269528456 | FBN1 | c.3528G>C (p.Gly1176=) n.2202G>C c.637-12486G>C (n.637-12486G>C) | dbSNP |
| 15 | g.48487136C>T | CA490017956 | FBN1 | c.3528G>A (p.Gly1176=) n.2202G>A c.637-12486G>A (n.637-12486G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48487138del | CA051044 | FBN1 | c.3528del (p.Lys1177SerfsTer27) n.2202del c.637-12486del (n.637-12486del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487137C>A | CA392325116 | FBN1 | c.3527G>T (p.Gly1176Val) n.2201G>T c.637-12487G>T (n.637-12487G>T) | COSMIC |
| 15 | g.48487137C>G | CA392325114 | FBN1 | c.3527G>C (p.Gly1176Ala) n.2201G>C c.637-12487G>C (n.637-12487G>C) | |
| 15 | g.48487137C>T | CA392325117 | FBN1 | c.3527G>A (p.Gly1176Glu) n.2201G>A c.637-12487G>A (n.637-12487G>A) | |
| 15 | g.48487138C>A | CA392325121 | FBN1 | c.3526G>T (p.Gly1176Trp) n.2200G>T c.637-12488G>T (n.637-12488G>T) | |
| 15 | g.48487138C>G | CA392325124 | FBN1 | c.3526G>C (p.Gly1176Arg) n.2200G>C c.637-12488G>C (n.637-12488G>C) | |
| 15 | g.48487138C>T | CA392325122 | FBN1 | c.3526G>A (p.Gly1176Arg) n.2200G>A c.637-12488G>A (n.637-12488G>A) | |
| 15 | g.48487139_48487148del | CA2695220298 | FBN1 | c.3517_3526del (p.Asn1173GlyfsTer28) n.2191_2200del c.637-12497_637-12488del (n.637-12497_637-12488del) | |
| 15 | g.48487139T>A | CA490017958 | FBN1 | c.3525A>T (p.Ile1175=) n.2199A>T c.637-12489A>T (n.637-12489A>T) | |
| 15 | g.48487139T>C | CA392325126 | FBN1 | c.3525A>G (p.Ile1175Met) n.2199A>G c.637-12489A>G (n.637-12489A>G) | ClinVar |
| 15 | g.48487139T>G | CA490017959 | FBN1 | c.3525A>C (p.Ile1175=) n.2199A>C c.637-12489A>C (n.637-12489A>C) | |
| 15 | g.48487139dup | CA2695220299 | FBN1 | c.3525dup (p.Gly1176ArgfsTer17) n.2199dup c.637-12489dup (n.637-12489dup) | |
| 15 | g.48487140_48487141del | CA2499222997 | FBN1 | c.3524_3525del (p.Ile1175ArgfsTer17) n.2198_2199del c.637-12490_637-12489del (n.637-12490_637-12489del) | ClinVar dbSNP |
| 15 | g.48487140A>C | CA392325129 | FBN1 | c.3524T>G (p.Ile1175Arg) n.2198T>G c.637-12490T>G (n.637-12490T>G) | gnomAD v4 |
| 15 | g.48487140A>G | CA392325130 | FBN1 | c.3524T>C (p.Ile1175Thr) n.2198T>C c.637-12490T>C (n.637-12490T>C) | |
| 15 | g.48487140A>T | CA392325132 | FBN1 | c.3524T>A (p.Ile1175Lys) n.2198T>A c.637-12490T>A (n.637-12490T>A) | |
| 15 | g.48487141T>A | CA392325134 | FBN1 | c.3523A>T (p.Ile1175Leu) n.2197A>T c.637-12491A>T (n.637-12491A>T) | gnomAD v4 |
| 15 | g.48487141T>C | CA051035 | FBN1 | c.3523A>G (p.Ile1175Val) n.2197A>G c.637-12491A>G (n.637-12491A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48487141T>G | CA392325137 | FBN1 | c.3523A>C (p.Ile1175Leu) n.2197A>C c.637-12491A>C (n.637-12491A>C) | gnomAD v4 |
| 15 | g.48487141T= | CA2175514029 | FBN1 | c.3523A= (p.Ile1175=) n.2197A= c.637-12491A= (n.637-12491A=) | |
| 15 | g.48487142G>A | CA051025 | FBN1 | c.3522C>T (p.Leu1174=) n.2196C>T c.637-12492C>T (n.637-12492C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487142G>C | CA051015 | FBN1 | c.3522C>G (p.Leu1174=) n.2196C>G c.637-12492C>G (n.637-12492C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48487142G= | CA2175514032 | FBN1 | c.3522C= (p.Leu1174=) n.2196C= c.637-12492C= (n.637-12492C=) | |
| 15 | g.48487142G>T | CA490017960 | FBN1 | c.3522C>A (p.Leu1174=) n.2196C>A c.637-12492C>A (n.637-12492C>A) | |
| 15 | g.48487143A= | CA2175514038 | FBN1 | c.3521T= (p.Leu1174=) n.2195T= c.637-12493T= (n.637-12493T=) | |
| 15 | g.48487143A>C | CA392325146 | FBN1 | c.3521T>G (p.Leu1174Arg) n.2195T>G c.637-12493T>G (n.637-12493T>G) | |
| 15 | g.48487143A>G | CA392325144 | FBN1 | c.3521T>C (p.Leu1174Pro) n.2195T>C c.637-12493T>C (n.637-12493T>C) | ClinVar dbSNP |
| 15 | g.48487143A>T | CA392325143 | FBN1 | c.3521T>A (p.Leu1174His) n.2195T>A c.637-12493T>A (n.637-12493T>A) | |
| 15 | g.48487144G>A | CA392325148 | FBN1 | c.3520C>T (p.Leu1174Phe) n.2194C>T c.637-12494C>T (n.637-12494C>T) | |
| 15 | g.48487144G>C | CA392325149 | FBN1 | c.3520C>G (p.Leu1174Val) n.2194C>G c.637-12494C>G (n.637-12494C>G) | |
| 15 | g.48487144G>T | CA392325151 | FBN1 | c.3520C>A (p.Leu1174Ile) n.2194C>A c.637-12494C>A (n.637-12494C>A) | |
| 15 | g.48487145G>A | CA490017961 | FBN1 | c.3519C>T (p.Asn1173=) n.2193C>T c.637-12495C>T (n.637-12495C>T) | gnomAD v4 |
| 15 | g.48487145G>C | CA392325154 | FBN1 | c.3519C>G (p.Asn1173Lys) n.2193C>G c.637-12495C>G (n.637-12495C>G) | |
| 15 | g.48487145G>T | CA392325156 | FBN1 | c.3519C>A (p.Asn1173Lys) n.2193C>A c.637-12495C>A (n.637-12495C>A) | |
| 15 | g.48487146T>A | CA392325157 | FBN1 | c.3518A>T (p.Asn1173Ile) n.2192A>T c.637-12496A>T (n.637-12496A>T) | ClinVar dbSNP |
| 15 | g.48487146T>C | CA392325159 | FBN1 | c.3518A>G (p.Asn1173Ser) n.2192A>G c.637-12496A>G (n.637-12496A>G) | |
| 15 | g.48487146T>G | CA392325161 | FBN1 | c.3518A>C (p.Asn1173Thr) n.2192A>C c.637-12496A>C (n.637-12496A>C) | ClinVar dbSNP |
| 15 | g.48487146T= | CA2175514047 | FBN1 | c.3518A= (p.Asn1173=) n.2192A= c.637-12496A= (n.637-12496A=) | |
| 15 | g.48487147T>A | CA392325163 | FBN1 | c.3517A>T (p.Asn1173Tyr) n.2191A>T c.637-12497A>T (n.637-12497A>T) | |
| 15 | g.48487147T>C | CA392325166 | FBN1 | c.3517A>G (p.Asn1173Asp) n.2191A>G c.637-12497A>G (n.637-12497A>G) | |
| 15 | g.48487147T>G | CA392325167 | FBN1 | c.3517A>C (p.Asn1173His) n.2191A>C c.637-12497A>C (n.637-12497A>C) | |
| 15 | g.48487148C>A | CA490017965 | FBN1 | c.3516G>T (p.Val1172=) n.2190G>T c.637-12498G>T (n.637-12498G>T) | |
| 15 | g.48487148C>G | CA490017966 | FBN1 | c.3516G>C (p.Val1172=) n.2190G>C c.637-12498G>C (n.637-12498G>C) | ClinVar dbSNP |
| 15 | g.48487148C>T | CA490017967 | FBN1 | c.3516G>A (p.Val1172=) n.2190G>A c.637-12498G>A (n.637-12498G>A) | |
| 15 | g.48487149A>C | CA392325171 | FBN1 | c.3515T>G (p.Val1172Gly) n.2189T>G c.637-12499T>G (n.637-12499T>G) | |
| 15 | g.48487149A>G | CA392325172 | FBN1 | c.3515T>C (p.Val1172Ala) n.2189T>C c.637-12499T>C (n.637-12499T>C) | |
| 15 | g.48487149A>T | CA392325169 | FBN1 | c.3515T>A (p.Val1172Glu) n.2189T>A c.637-12499T>A (n.637-12499T>A) | |
| 15 | g.48487150C>A | CA392325175 | FBN1 | c.3514G>T (p.Val1172Leu) n.2188G>T c.637-12500G>T (n.637-12500G>T) | |
| 15 | g.48487150C= | CA2175514056 | FBN1 | c.3514G= (p.Val1172=) n.2188G= c.637-12500G= (n.637-12500G=) | |
| 15 | g.48487150C>G | CA392325177 | FBN1 | c.3514G>C (p.Val1172Leu) n.2188G>C c.637-12500G>C (n.637-12500G>C) | |
| 15 | g.48487150C>T | CA014243 | FBN1 | c.3514G>A (p.Val1172Met) n.2188G>A c.637-12500G>A (n.637-12500G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48487151G>A | CA050999 | FBN1 | c.3513C>T (p.Cys1171=) n.2187C>T c.637-12501C>T (n.637-12501C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487151G>C | CA392325180 | FBN1 | c.3513C>G (p.Cys1171Trp) n.2187C>G c.637-12501C>G (n.637-12501C>G) | ClinVar dbSNP |
| 15 | g.48487151G= | CA2175514062 | FBN1 | c.3513C= (p.Cys1171=) n.2187C= c.637-12501C= (n.637-12501C=) | |
| 15 | g.48487151G>T | CA014231 | FBN1 | c.3513C>A (p.Cys1171Ter) n.2187C>A c.637-12501C>A (n.637-12501C>A) | ClinVar dbSNP |
| 15 | g.48487152C>A | CA392325183 | FBN1 | c.3512G>T (p.Cys1171Phe) n.2186G>T c.637-12502G>T (n.637-12502G>T) | |
| 15 | g.48487152C= | CA2175514073 | FBN1 | c.3512G= (p.Cys1171=) n.2186G= c.637-12502G= (n.637-12502G=) | |
| 15 | g.48487152C>G | CA392325189 | FBN1 | c.3512G>C (p.Cys1171Ser) n.2186G>C c.637-12502G>C (n.637-12502G>C) | |
| 15 | g.48487152C>T | CA392325190 | FBN1 | c.3512G>A (p.Cys1171Tyr) n.2186G>A c.637-12502G>A (n.637-12502G>A) | ClinVar dbSNP |
| 15 | g.48487153A>C | CA392325193 | FBN1 | c.3511T>G (p.Cys1171Gly) n.2185T>G c.637-12503T>G (n.637-12503T>G) | |
| 15 | g.48487153A>G | CA392325194 | FBN1 | c.3511T>C (p.Cys1171Arg) n.2185T>C c.637-12503T>C (n.637-12503T>C) | ClinVar dbSNP |
| 15 | g.48487153A>T | CA392325196 | FBN1 | c.3511T>A (p.Cys1171Ser) n.2185T>A c.637-12503T>A (n.637-12503T>A) | |
| 15 | g.48487154A>C | CA490017970 | FBN1 | c.3510T>G (p.Arg1170=) n.2184T>G c.637-12504T>G (n.637-12504T>G) | |
| 15 | g.48487154A>G | CA490017971 | FBN1 | c.3510T>C (p.Arg1170=) n.2184T>C c.637-12504T>C (n.637-12504T>C) | dbSNP |
| 15 | g.48487154A>T | CA490017972 | FBN1 | c.3510T>A (p.Arg1170=) n.2184T>A c.637-12504T>A (n.637-12504T>A) | |
| 15 | g.48487155C>A | CA392325200 | FBN1 | c.3509G>T (p.Arg1170Leu) n.2183G>T c.637-12505G>T (n.637-12505G>T) | |
| 15 | g.48487155C= | CA2175514078 | FBN1 | c.3509G= (p.Arg1170=) n.2183G= c.637-12505G= (n.637-12505G=) | |
| 15 | g.48487155C>G | CA392325198 | FBN1 | c.3509G>C (p.Arg1170Pro) n.2183G>C c.637-12505G>C (n.637-12505G>C) | |
| 15 | g.48487155C>T | CA014215 | FBN1 | c.3509G>A (p.Arg1170His) n.2183G>A c.637-12505G>A (n.637-12505G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487156G>A | CA392325203 | FBN1 | c.3508C>T (p.Arg1170Cys) n.2182C>T c.637-12506C>T (n.637-12506C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48487156G>C | CA392325205 | FBN1 | c.3508C>G (p.Arg1170Gly) n.2182C>G c.637-12506C>G (n.637-12506C>G) | gnomAD v4 |
| 15 | g.48487156G= | CA2175514085 | FBN1 | c.3508C= (p.Arg1170=) n.2182C= c.637-12506C= (n.637-12506C=) | |
| 15 | g.48487156G>T | CA392325207 | FBN1 | c.3508C>A (p.Arg1170Ser) n.2182C>A c.637-12506C>A (n.637-12506C>A) | |
| 15 | g.48487157del | CA2573054039 | FBN1 | c.3508del (p.Arg1170ValfsTer3) n.2182del c.637-12506del (n.637-12506del) | ClinVar dbSNP |
| 15 | g.48487157G>A | CA490017978 | FBN1 | c.3507C>T (p.Gly1169=) n.2181C>T c.637-12507C>T (n.637-12507C>T) | ClinVar dbSNP |
| 15 | g.48487157G>C | CA490017977 | FBN1 | c.3507C>G (p.Gly1169=) n.2181C>G c.637-12507C>G (n.637-12507C>G) | |
| 15 | g.48487157G= | CA2175514090 | FBN1 | c.3507C= (p.Gly1169=) n.2181C= c.637-12507C= (n.637-12507C=) | |
| 15 | g.48487157G>T | CA490017976 | FBN1 | c.3507C>A (p.Gly1169=) n.2181C>A c.637-12507C>A (n.637-12507C>A) | |
| 15 | g.48487158C>A | CA014204 | FBN1 | c.3506G>T (p.Gly1169Val) n.2180G>T c.637-12508G>T (n.637-12508G>T) | ClinVar dbSNP |
| 15 | g.48487158C= | CA2175514095 | FBN1 | c.3506G= (p.Gly1169=) n.2180G= c.637-12508G= (n.637-12508G=) | |
| 15 | g.48487158C>G | CA392325210 | FBN1 | c.3506G>C (p.Gly1169Ala) n.2180G>C c.637-12508G>C (n.637-12508G>C) | |
| 15 | g.48487158C>T | CA16614519 | FBN1 | c.3506G>A (p.Gly1169Asp) n.2180G>A c.637-12508G>A (n.637-12508G>A) | ClinVar dbSNP |
| 15 | g.48487159dup | CA2573332582 | FBN1 | c.3506dup (p.Arg1170ProfsTer23) n.2180dup c.637-12508dup (n.637-12508dup) | |
| 15 | g.48487159C>A | CA392325213 | FBN1 | c.3505G>T (p.Gly1169Cys) n.2179G>T c.637-12509G>T (n.637-12509G>T) | |
| 15 | g.48487159C>G | CA392325215 | FBN1 | c.3505G>C (p.Gly1169Arg) n.2179G>C c.637-12509G>C (n.637-12509G>C) | ClinVar |
| 15 | g.48487159C>T | CA392325217 | FBN1 | c.3505G>A (p.Gly1169Ser) n.2179G>A c.637-12509G>A (n.637-12509G>A) | |
| 15 | g.48487160A= | CA2175514107 | FBN1 | c.3504T= (p.Asn1168=) n.2178T= c.637-12510T= (n.637-12510T=) | |
| 15 | g.48487160A>C | CA392325219 | FBN1 | c.3504T>G (p.Asn1168Lys) n.2178T>G c.637-12510T>G (n.637-12510T>G) | |
| 15 | g.48487160A>G | CA050975 | FBN1 | c.3504T>C (p.Asn1168=) n.2178T>C c.637-12510T>C (n.637-12510T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487160A>T | CA392325222 | FBN1 | c.3504T>A (p.Asn1168Lys) n.2178T>A c.637-12510T>A (n.637-12510T>A) |