| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48537756_48537757delinsTC | CA2175539523 | FBN1 | c.590_591delinsGA (p.Gly197=) | |
| 15 | g.48537757C>A | CA392446085 | FBN1 | c.590G>T (p.Gly197Val) | |
| 15 | g.48537757C= | CA2175539533 | FBN1 | c.590G= (p.Gly197=) | |
| 15 | g.48537757C>G | CA392446086 | FBN1 | c.590G>C (p.Gly197Ala) | |
| 15 | g.48537757C>T | CA270013604 | FBN1 | c.590G>A (p.Gly197Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537759del | CA658824887 | FBN1 | c.590del (p.Gly197AspfsTer?) c.590del (p.Gly197AspfsTer19) | ClinVar dbSNP |
| 15 | g.48537758C>A | CA392446087 | FBN1 | c.589G>T (p.Gly197Ter) | |
| 15 | g.48537758C= | CA2175539537 | FBN1 | c.589G= (p.Gly197=) | |
| 15 | g.48537758C>G | CA10636154 | FBN1 | c.589G>C (p.Gly197Arg) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48537758C>T | CA392446088 | FBN1 | c.589G>A (p.Gly197Arg) | |
| 15 | g.48537759C>A | CA392446089 | FBN1 | c.588G>T (p.Gln196His) | |
| 15 | g.48537759C>G | CA392446090 | FBN1 | c.588G>C (p.Gln196His) | |
| 15 | g.48537759C>T | CA490090163 | FBN1 | c.588G>A (p.Gln196=) | |
| 15 | g.48537760T>A | CA392446091 | FBN1 | c.587A>T (p.Gln196Leu) | |
| 15 | g.48537760T>C | CA392446092 | FBN1 | c.587A>G (p.Gln196Arg) | |
| 15 | g.48537760T>G | CA392446093 | FBN1 | c.587A>C (p.Gln196Pro) | |
| 15 | g.48537761G>A | CA392446096 | FBN1 | c.586C>T (p.Gln196Ter) | |
| 15 | g.48537761G>C | CA392446095 | FBN1 | c.586C>G (p.Gln196Glu) | |
| 15 | g.48537761G>T | CA392446094 | FBN1 | c.586C>A (p.Gln196Lys) | |
| 15 | g.48537762G>A | CA490090167 | FBN1 | c.585C>T (p.Cys195=) | COSMIC |
| 15 | g.48537762G>C | CA392446097 | FBN1 | c.585C>G (p.Cys195Trp) | |
| 15 | g.48537762G= | CA2175539551 | FBN1 | c.585C= (p.Cys195=) | |
| 15 | g.48537762G>T | CA270013611 | FBN1 | c.585C>A (p.Cys195Ter) | dbSNP |
| 15 | g.48537763C>A | CA392446098 | FBN1 | c.584G>T (p.Cys195Phe) | |
| 15 | g.48537763C>G | CA392446099 | FBN1 | c.584G>C (p.Cys195Ser) | |
| 15 | g.48537763C>T | CA392446100 | FBN1 | c.584G>A (p.Cys195Tyr) | |
| 15 | g.48537763_48537770delinsCACATCTG | CA2175539554 | FBN1 | c.577_584delinsCAGATGTG (p.Gln193=) | |
| 15 | g.48537764A>C | CA392446103 | FBN1 | c.583T>G (p.Cys195Gly) | |
| 15 | g.48537764A>G | CA392446102 | FBN1 | c.583T>C (p.Cys195Arg) | |
| 15 | g.48537764A>T | CA392446101 | FBN1 | c.583T>A (p.Cys195Ser) | |
| 15 | g.48537764_48537770delinsTT | CA1139663907 | FBN1 | c.577_583delinsAA (p.Gln193LysfsTer28) c.577_583delinsAA (p.Gln193LysfsTer?) | ClinVar dbSNP |
| 15 | g.48537765C>A | CA392446104 | FBN1 | c.582G>T (p.Met194Ile) | |
| 15 | g.48537765C>G | CA392446105 | FBN1 | c.582G>C (p.Met194Ile) | |
| 15 | g.48537765C>T | CA392446106 | FBN1 | c.582G>A (p.Met194Ile) | COSMIC |
| 15 | g.48537766A>C | CA392446107 | FBN1 | c.581T>G (p.Met194Arg) | |
| 15 | g.48537766A>G | CA392446108 | FBN1 | c.581T>C (p.Met194Thr) | ClinVar |
| 15 | g.48537766A>T | CA392446109 | FBN1 | c.581T>A (p.Met194Lys) | |
| 15 | g.48537767T>A | CA392446112 | FBN1 | c.580A>T (p.Met194Leu) | COSMIC |
| 15 | g.48537767T>C | CA392446110 | FBN1 | c.580A>G (p.Met194Val) | |
| 15 | g.48537767T>G | CA392446111 | FBN1 | c.580A>C (p.Met194Leu) | |
| 15 | g.48537768del | CA2695220429 | FBN1 | c.579del (p.Met194CysfsTer?) c.579del (p.Met194CysfsTer22) | |
| 15 | g.48537768C>A | CA392446113 | FBN1 | c.579G>T (p.Gln193His) | gnomAD v4 |
| 15 | g.48537768C>G | CA392446114 | FBN1 | c.579G>C (p.Gln193His) | gnomAD v4 |
| 15 | g.48537768C>T | CA490090177 | FBN1 | c.579G>A (p.Gln193=) | |
| 15 | g.48537769T>A | CA392446115 | FBN1 | c.578A>T (p.Gln193Leu) | |
| 15 | g.48537769T>C | CA392446116 | FBN1 | c.578A>G (p.Gln193Arg) | |
| 15 | g.48537769T>G | CA392446117 | FBN1 | c.578A>C (p.Gln193Pro) | |
| 15 | g.48537769_48537770delinsTG | CA2175539559 | FBN1 | c.577_578delinsCA (p.Gln193=) | |
| 15 | g.48537770G>A | CA392446118 | FBN1 | c.577C>T (p.Gln193Ter) | |
| 15 | g.48537770G>C | CA392446119 | FBN1 | c.577C>G (p.Gln193Glu) | |
| 15 | g.48537770G>T | CA392446120 | FBN1 | c.577C>A (p.Gln193Lys) | |
| 15 | g.48537771del | CA658824888 | FBN1 | c.577del (p.Gln193ArgfsTer?) c.577del (p.Gln193ArgfsTer23) | ClinVar dbSNP |
| 15 | g.48537771G>A | CA490090181 | FBN1 | c.576C>T (p.Asn192=) | dbSNP gnomAD v4 |
| 15 | g.48537771G>C | CA392446121 | FBN1 | c.576C>G (p.Asn192Lys) | gnomAD v4 |
| 15 | g.48537771G= | CA2175539565 | FBN1 | c.576C= (p.Asn192=) | |
| 15 | g.48537771G>T | CA392446122 | FBN1 | c.576C>A (p.Asn192Lys) | gnomAD v4 |
| 15 | g.48537772T>A | CA392446123 | FBN1 | c.575A>T (p.Asn192Ile) | |
| 15 | g.48537772T>C | CA055494 | FBN1 | c.575A>G (p.Asn192Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537772T>G | CA392446124 | FBN1 | c.575A>C (p.Asn192Thr) | |
| 15 | g.48537772T= | CA2175539568 | FBN1 | c.575A= (p.Asn192=) | |
| 15 | g.48537773T>A | CA392446125 | FBN1 | c.574A>T (p.Asn192Tyr) | |
| 15 | g.48537773T>C | CA392446127 | FBN1 | c.574A>G (p.Asn192Asp) | dbSNP |
| 15 | g.48537773T>G | CA392446126 | FBN1 | c.574A>C (p.Asn192His) | gnomAD v4 |
| 15 | g.48537773T= | CA2175539571 | FBN1 | c.574A= (p.Asn192=) | |
| 15 | g.48537774G>A | CA055479 | FBN1 | c.573C>T (p.Ser191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48537774G>C | CA392446129 | FBN1 | c.573C>G (p.Ser191Arg) | |
| 15 | g.48537774G= | CA2175539575 | FBN1 | c.573C= (p.Ser191=) | |
| 15 | g.48537774G>T | CA392446128 | FBN1 | c.573C>A (p.Ser191Arg) | |
| 15 | g.48537775C>A | CA055454 | FBN1 | c.572G>T (p.Ser191Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48537775C= | CA2175539577 | FBN1 | c.572G= (p.Ser191=) | |
| 15 | g.48537775C>G | CA392446130 | FBN1 | c.572G>C (p.Ser191Thr) | |
| 15 | g.48537775C>T | CA392446131 | FBN1 | c.572G>A (p.Ser191Asn) | |
| 15 | g.48537775_48537776insCCAGGGA | CA2695220430 | FBN1 | c.571_572insTCCCTGG (p.Ser191IlefsTer?) | |
| 15 | g.48537776T>A | CA392446132 | FBN1 | c.571A>T (p.Ser191Cys) | |
| 15 | g.48537776T>C | CA392446133 | FBN1 | c.571A>G (p.Ser191Gly) | gnomAD v4 |
| 15 | g.48537776T>G | CA392446134 | FBN1 | c.571A>C (p.Ser191Arg) | |
| 15 | g.48537777G>A | CA490090190 | FBN1 | c.570C>T (p.Ile190=) | ClinVar |
| 15 | g.48537777G>C | CA392446135 | FBN1 | c.570C>G (p.Ile190Met) | |
| 15 | g.48537777G>T | CA490090191 | FBN1 | c.570C>A (p.Ile190=) | |
| 15 | g.48537778A>C | CA392446136 | FBN1 | c.569T>G (p.Ile190Ser) | |
| 15 | g.48537778A>G | CA392446137 | FBN1 | c.569T>C (p.Ile190Thr) | |
| 15 | g.48537778A>T | CA392446138 | FBN1 | c.569T>A (p.Ile190Asn) | |
| 15 | g.48537779T>A | CA270013630 | FBN1 | c.568A>T (p.Ile190Phe) | dbSNP |
| 15 | g.48537779T>C | CA055422 | FBN1 | c.568A>G (p.Ile190Val) | dbSNP ExAC gnomAD v2 |
| 15 | g.48537779T>G | CA392446139 | FBN1 | c.568A>C (p.Ile190Leu) | ClinVar dbSNP |
| 15 | g.48537779T= | CA2175539581 | FBN1 | c.568A= (p.Ile190=) | |
| 15 | g.48537780C>A | CA490090198 | FBN1 | c.567G>T (p.Val189=) | |
| 15 | g.48537780C>G | CA490090197 | FBN1 | c.567G>C (p.Val189=) | |
| 15 | g.48537780C>T | CA490090195 | FBN1 | c.567G>A (p.Val189=) | |
| 15 | g.48537781A>C | CA392446140 | FBN1 | c.566T>G (p.Val189Gly) | gnomAD v4 |
| 15 | g.48537781A>G | CA392446141 | FBN1 | c.566T>C (p.Val189Ala) | |
| 15 | g.48537781A>T | CA392446142 | FBN1 | c.566T>A (p.Val189Glu) | |
| 15 | g.48537782del | CA2499223017 | FBN1 | c.565del (p.Val189Ter) | ClinVar dbSNP |
| 15 | g.48537782C>A | CA392446143 | FBN1 | c.565G>T (p.Val189Leu) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48537782C= | CA2175539586 | FBN1 | c.565G= (p.Val189=) | |
| 15 | g.48537782C>G | CA392446144 | FBN1 | c.565G>C (p.Val189Leu) | |
| 15 | g.48537782C>T | CA392446145 | FBN1 | c.565G>A (p.Val189Met) | |
| 15 | g.48537783A>C | CA490090204 | FBN1 | c.564T>G (p.Thr188=) | |
| 15 | g.48537783A>G | CA490090202 | FBN1 | c.564T>C (p.Thr188=) | |
| 15 | g.48537783A>T | CA490090203 | FBN1 | c.564T>A (p.Thr188=) | |
| 15 | g.48537784G>A | CA392446146 | FBN1 | c.563C>T (p.Thr188Ile) | |
| 15 | g.48537784G>C | CA392446147 | FBN1 | c.563C>G (p.Thr188Ser) | |
| 15 | g.48537784G>T | CA392446148 | FBN1 | c.563C>A (p.Thr188Asn) | |
| 15 | g.48537785T>A | CA392446149 | FBN1 | c.562A>T (p.Thr188Ser) | |
| 15 | g.48537785T>C | CA392446150 | FBN1 | c.562A>G (p.Thr188Ala) | |
| 15 | g.48537785T>G | CA392446151 | FBN1 | c.562A>C (p.Thr188Pro) | |
| 15 | g.48537785_48537786delinsTA | CA2175539588 | FBN1 | c.561_562delinsTA (p.Phe187=) | |
| 15 | g.48537786A>C | CA392446152 | FBN1 | c.561T>G (p.Phe187Leu) | |
| 15 | g.48537786A>G | CA490090208 | FBN1 | c.561T>C (p.Phe187=) | |
| 15 | g.48537786A>T | CA392446153 | FBN1 | c.561T>A (p.Phe187Leu) | |
| 15 | g.48537789del | CA015919 | FBN1 | c.561del (p.Phe187LeufsTer3) | ClinVar dbSNP |
| 15 | g.48537787A= | CA2175539594 | FBN1 | c.560T= (p.Phe187=) | |
| 15 | g.48537787A>C | CA392446154 | FBN1 | c.560T>G (p.Phe187Cys) | |
| 15 | g.48537787A>G | CA392446155 | FBN1 | c.560T>C (p.Phe187Ser) | |
| 15 | g.48537787A>T | CA392446156 | FBN1 | c.560T>A (p.Phe187Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537788A>C | CA392446157 | FBN1 | c.559T>G (p.Phe187Val) | |
| 15 | g.48537788A>G | CA392446158 | FBN1 | c.559T>C (p.Phe187Leu) | |
| 15 | g.48537788A>T | CA392446159 | FBN1 | c.559T>A (p.Phe187Ile) | |
| 15 | g.48537789A= | CA2175539598 | FBN1 | c.558T= (p.Cys186=) | |
| 15 | g.48537789A>C | CA392446161 | FBN1 | c.558T>G (p.Cys186Trp) | |
| 15 | g.48537789A>G | CA490090212 | FBN1 | c.558T>C (p.Cys186=) | |
| 15 | g.48537789A>T | CA392446160 | FBN1 | c.558T>A (p.Cys186Ter) | ClinVar dbSNP |
| 15 | g.48537790C>A | CA392446162 | FBN1 | c.557G>T (p.Cys186Phe) | |
| 15 | g.48537790C>G | CA392446163 | FBN1 | c.557G>C (p.Cys186Ser) | |
| 15 | g.48537790C>T | CA392446164 | FBN1 | c.557G>A (p.Cys186Tyr) | ClinVar |
| 15 | g.48537790_48537793delinsCATG | CA2175539603 | FBN1 | c.554_557delinsCATG (p.Pro185=) | |
| 15 | g.48537791A= | CA2175539615 | FBN1 | c.556T= (p.Cys186=) | |
| 15 | g.48537791A>C | CA392446165 | FBN1 | c.556T>G (p.Cys186Gly) | |
| 15 | g.48537791A>G | CA015898 | FBN1 | c.556T>C (p.Cys186Arg) | ClinVar dbSNP |
| 15 | g.48537791A>T | CA392446166 | FBN1 | c.556T>A (p.Cys186Ser) | |
| 15 | g.48537791_48537793del | CA658824889 | FBN1 | c.554_556del (p.Pro185_Cys186delinsArg) | ClinVar dbSNP |
| 15 | g.48537792T>A | CA490090213 | FBN1 | c.555A>T (p.Pro185=) | |
| 15 | g.48537792T>C | CA490090214 | FBN1 | c.555A>G (p.Pro185=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48537792T>G | CA490090215 | FBN1 | c.555A>C (p.Pro185=) | |
| 15 | g.48537792T= | CA2175539620 | FBN1 | c.555A= (p.Pro185=) | |
| 15 | g.48537793G>A | CA392446167 | FBN1 | c.554C>T (p.Pro185Leu) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48537793G>C | CA392446169 | FBN1 | c.554C>G (p.Pro185Arg) | |
| 15 | g.48537793G= | CA2175539624 | FBN1 | c.554C= (p.Pro185=) | |
| 15 | g.48537793G>T | CA392446168 | FBN1 | c.554C>A (p.Pro185Gln) | |
| 15 | g.48537795del | CA2695220432 | FBN1 | c.554del (p.Pro185HisfsTer5) | |
| 15 | g.48537794G>A | CA392446170 | FBN1 | c.553C>T (p.Pro185Ser) | |
| 15 | g.48537794G>C | CA392446171 | FBN1 | c.553C>G (p.Pro185Ala) | |
| 15 | g.48537794G>T | CA392446172 | FBN1 | c.553C>A (p.Pro185Thr) | |
| 15 | g.48537795G>A | CA490090217 | FBN1 | c.552C>T (p.Gly184=) | |
| 15 | g.48537795G>C | CA490090218 | FBN1 | c.552C>G (p.Gly184=) | |
| 15 | g.48537795G= | CA2175539627 | FBN1 | c.552C= (p.Gly184=) | |
| 15 | g.48537795G>T | CA490090219 | FBN1 | c.552C>A (p.Gly184=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48537796C>A | CA392446173 | FBN1 | c.551G>T (p.Gly184Val) | |
| 15 | g.48537796C>G | CA392446174 | FBN1 | c.551G>C (p.Gly184Ala) | |
| 15 | g.48537796C>T | CA392446175 | FBN1 | c.551G>A (p.Gly184Asp) | |
| 15 | g.48537797del | CA2740096695 | FBN1 | c.551del (p.Gly184AlafsTer6) | ClinVar |
| 15 | g.48537797C>A | CA392446176 | FBN1 | c.550G>T (p.Gly184Cys) | |
| 15 | g.48537797C>G | CA392446177 | FBN1 | c.550G>C (p.Gly184Arg) | |
| 15 | g.48537797C>T | CA392446178 | FBN1 | c.550G>A (p.Gly184Ser) | |
| 15 | g.48537798T>A | CA490090224 | FBN1 | c.549A>T (p.Thr183=) | |
| 15 | g.48537798T>C | CA490090226 | FBN1 | c.549A>G (p.Thr183=) | |
| 15 | g.48537798T>G | CA490090225 | FBN1 | c.549A>C (p.Thr183=) | |
| 15 | g.48537799G>A | CA392446179 | FBN1 | c.548C>T (p.Thr183Ile) | gnomAD v4 |
| 15 | g.48537799G>C | CA392446180 | FBN1 | c.548C>G (p.Thr183Arg) | |
| 15 | g.48537799G>T | CA392446181 | FBN1 | c.548C>A (p.Thr183Lys) | COSMIC |
| 15 | g.48537800T>A | CA392446182 | FBN1 | c.547A>T (p.Thr183Ser) | |
| 15 | g.48537800T>C | CA392446184 | FBN1 | c.547A>G (p.Thr183Ala) | gnomAD v4 |
| 15 | g.48537800T>G | CA392446183 | FBN1 | c.547A>C (p.Thr183Pro) | |
| 15 | g.48537801C>A | CA392446185 | FBN1 | c.546G>T (p.Arg182Ser) | |
| 15 | g.48537801C>G | CA392446186 | FBN1 | c.546G>C (p.Arg182Ser) | gnomAD v4 |
| 15 | g.48537801C>T | CA490090230 | FBN1 | c.546G>A (p.Arg182=) | gnomAD v4 |
| 15 | g.48537802C>A | CA392446187 | FBN1 | c.545G>T (p.Arg182Met) | |
| 15 | g.48537802C= | CA2175539634 | FBN1 | c.545G= (p.Arg182=) | |
| 15 | g.48537802C>G | CA392446189 | FBN1 | c.545G>C (p.Arg182Thr) | |
| 15 | g.48537802C>T | CA392446188 | FBN1 | c.545G>A (p.Arg182Lys) | ClinVar dbSNP |
| 15 | g.48537803T>A | CA392446190 | FBN1 | c.544A>T (p.Arg182Trp) | |
| 15 | g.48537803T>C | CA392446191 | FBN1 | c.544A>G (p.Arg182Gly) | |
| 15 | g.48537803T>G | CA490090232 | FBN1 | c.544A>C (p.Arg182=) | |
| 15 | g.48537804G>A | CA490090233 | FBN1 | c.543C>T (p.Tyr181=) | ClinVar dbSNP |
| 15 | g.48537804G>C | CA392446192 | FBN1 | c.543C>G (p.Tyr181Ter) | ClinVar dbSNP |
| 15 | g.48537804G= | CA2175539640 | FBN1 | c.543C= (p.Tyr181=) | |
| 15 | g.48537804G>T | CA392446193 | FBN1 | c.543C>A (p.Tyr181Ter) | |
| 15 | g.48537805T>A | CA392446194 | FBN1 | c.542A>T (p.Tyr181Phe) | |
| 15 | g.48537805T>C | CA392446195 | FBN1 | c.542A>G (p.Tyr181Cys) | |
| 15 | g.48537805T>G | CA392446196 | FBN1 | c.542A>C (p.Tyr181Ser) | |
| 15 | g.48537806A>C | CA392446197 | FBN1 | c.541T>G (p.Tyr181Asp) | |
| 15 | g.48537806A>G | CA392446198 | FBN1 | c.541T>C (p.Tyr181His) | |
| 15 | g.48537806A>T | CA392446199 | FBN1 | c.541T>A (p.Tyr181Asn) | |
| 15 | g.48537807A>C | CA392446200 | FBN1 | c.540T>G (p.Asp180Glu) | |
| 15 | g.48537807A>G | CA490090238 | FBN1 | c.540T>C (p.Asp180=) | |
| 15 | g.48537807A>T | CA392446201 | FBN1 | c.540T>A (p.Asp180Glu) | |
| 15 | g.48537808T>A | CA392446204 | FBN1 | c.539A>T (p.Asp180Val) | |
| 15 | g.48537808T>C | CA392446202 | FBN1 | c.539A>G (p.Asp180Gly) | |
| 15 | g.48537808T>G | CA392446203 | FBN1 | c.539A>C (p.Asp180Ala) | |
| 15 | g.48537809C>A | CA10603465 | FBN1 | c.539-1G>T (n.539-1G>T) | ClinVar dbSNP |
| 15 | g.48537809C= | CA2175539646 | FBN1 | c.539-1G= (n.539-1G=) | |
| 15 | g.48537809C>G | CA392446205 | FBN1 | c.539-1G>C (n.539-1G>C) | |
| 15 | g.48537809C>T | CA015791 | FBN1 | c.539-1G>A (n.539-1G>A) | ClinVar dbSNP |
| 15 | g.48537810T>A | CA392446206 | FBN1 | c.539-2A>T (n.539-2A>T) | |
| 15 | g.48537810T>C | CA392446207 | FBN1 | c.539-2A>G (n.539-2A>G) | ClinVar dbSNP |
| 15 | g.48537810T>G | CA392446208 | FBN1 | c.539-2A>C (n.539-2A>C) | |
| 15 | g.48537818A= | CA2175539651 | FBN1 | c.539-10T= (n.539-10T=) | |
| 15 | g.48537818A>G | CA054814 | FBN1 | c.539-10T>C (n.539-10T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48537819A>G | CA2628337612 | FBN1 | c.539-11T>C (n.539-11T>C) | gnomAD v4 |
| 15 | g.48537820_48537821insTAATGAACACCAC | CA2531249833 | FBN1 | c.539-13_539-12insGTGGTGTTCATTA (n.539-13_539-12insGTGGTGTTCATTA) | |
| 15 | g.48537821A= | CA2175539654 | FBN1 | c.539-13T= (n.539-13T=) | |
| 15 | g.48537821A>C | CA2628337613 | FBN1 | c.539-13T>G (n.539-13T>G) | gnomAD v4 |
| 15 | g.48537821A>G | CA054817 | FBN1 | c.539-13T>C (n.539-13T>C) | dbSNP ExAC gnomAD v2 |
| 15 | g.48537822A>C | CA2628337614 | FBN1 | c.539-14T>G (n.539-14T>G) | gnomAD v4 |
| 15 | g.48537822_48537823delinsAT | CA2175539655 | FBN1 | c.539-15_539-14delinsAT (n.539-15_539-14delinsAT) | |
| 15 | g.48537823del | CA015782 | FBN1 | c.539-15del (n.539-15del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537823T>A | CA054828 | FBN1 | c.539-15A>T (n.539-15A>T) | dbSNP ExAC gnomAD v4 |
| 15 | g.48537823T>C | CA2581215367 | FBN1 | c.539-15A>G (n.539-15A>G) | |
| 15 | g.48537823T>G | CA2581215366 | FBN1 | c.539-15A>C (n.539-15A>C) | |
| 15 | g.48537823T= | CA2175539659 | FBN1 | c.539-15A= (n.539-15A=) | |
| 15 | g.48537828del | CA392446209 | FBN1 | c.539-16del (n.539-16del) | |
| 15 | g.48537826A= | CA2175539662 | FBN1 | c.539-18T= (n.539-18T=) | |
| 15 | g.48537826A>G | CA2175539663 | FBN1 | c.539-18T>C (n.539-18T>C) | dbSNP |
| 15 | g.48537830C= | CA2175539665 | FBN1 | c.539-22G= (n.539-22G=) | |
| 15 | g.48537830C>G | CA2175539666 | FBN1 | c.539-22G>C (n.539-22G>C) | dbSNP |
| 15 | g.48537834T>A | CA2628337615 | FBN1 | c.539-26A>T (n.539-26A>T) | gnomAD v4 |
| 15 | g.48537834T>C | CA2575717766 | FBN1 | c.539-26A>G (n.539-26A>G) | gnomAD v4 |
| 15 | g.48537834T>G | CA2175539669 | FBN1 | c.539-26A>C (n.539-26A>C) | dbSNP |
| 15 | g.48537834T= | CA2175539667 | FBN1 | c.539-26A= (n.539-26A=) | |
| 15 | g.48537835G= | CA2175539670 | FBN1 | c.539-27C= (n.539-27C=) | |
| 15 | g.48537835G>T | CA713405939 | FBN1 | c.539-27C>A (n.539-27C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537839dup | CA618011962 | FBN1 | c.539-28dup (n.539-28dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537841C>A | CA2730867511 | FBN1 | c.539-33G>T (n.539-33G>T) | dbSNP |
| 15 | g.48537847A>G | CA2730867830 | FBN1 | c.539-39T>C (n.539-39T>C) | dbSNP |
| 15 | g.48537848A>G | CA2628337616 | FBN1 | c.539-40T>C (n.539-40T>C) | gnomAD v4 |
| 15 | g.48537849G>A | CA270013658 | FBN1 | c.539-41C>T (n.539-41C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537849G= | CA2175539674 | FBN1 | c.539-41C= (n.539-41C=) | |
| 15 | g.48537850C= | CA2175539676 | FBN1 | c.539-42G= (n.539-42G=) | |
| 15 | g.48537850C>T | CA969574508 | FBN1 | c.539-42G>A (n.539-42G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537857C>A | CA618011963 | FBN1 | c.539-49G>T (n.539-49G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537857C= | CA2175539679 | FBN1 | c.539-49G= (n.539-49G=) | |
| 15 | g.48537857C>T | CA2175539678 | FBN1 | c.539-49G>A (n.539-49G>A) | dbSNP |